Mutagenetix > Incidental Mutation

Incidental Mutation 'BB005:Madd'

642300

Institutional Source

Beutler Lab

Gene Symbol

Madd

Ensembl Gene

ENSMUSG00000040687

Gene Name

MAP-kinase activating death domain

Synonyms

Rab3 GEP, 9630059K23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

BB005

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90967705-91013404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91007233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 293 (D293V)

Ref Sequence

ENSEMBL: ENSMUSP00000107001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066420] [ENSMUST00000066473] [ENSMUST00000075269] [ENSMUST00000077941] [ENSMUST00000099723] [ENSMUST00000099725] [ENSMUST00000111369] [ENSMUST00000111370] [ENSMUST00000111371] [ENSMUST00000111372] [ENSMUST00000111373] [ENSMUST00000111375] [ENSMUST00000111376] [ENSMUST00000111381] [ENSMUST00000140600]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000066420
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067210
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000066473
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069350
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075269
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074746
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	719	N/A	INTRINSIC
low complexity region	762	770	N/A	INTRINSIC
low complexity region	797	820	N/A	INTRINSIC
low complexity region	889	899	N/A	INTRINSIC
low complexity region	1276	1290	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000077941
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077094
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1354	1368	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099723
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097311
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1189	1203	N/A	INTRINSIC
low complexity region	1353	1367	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099725
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097313
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111369
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107000
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	773	796	N/A	INTRINSIC
low complexity region	865	875	N/A	INTRINSIC
low complexity region	1108	1122	N/A	INTRINSIC
low complexity region	1251	1265	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111370
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107001
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1334	1348	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111371
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107002
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	719	N/A	INTRINSIC
low complexity region	762	770	N/A	INTRINSIC
low complexity region	797	820	N/A	INTRINSIC
low complexity region	909	919	N/A	INTRINSIC
low complexity region	1296	1310	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111372
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107003
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1295	1309	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111373
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107004
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	2.9e-29	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	8.7e-71	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	2.8e-16	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	773	796	N/A	INTRINSIC
low complexity region	865	875	N/A	INTRINSIC
low complexity region	1108	1122	N/A	INTRINSIC
low complexity region	1251	1265	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111375
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107006
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	773	796	N/A	INTRINSIC
low complexity region	885	895	N/A	INTRINSIC
low complexity region	1272	1286	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111376
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107007
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	721	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	908	918	N/A	INTRINSIC
low complexity region	1151	1162	N/A	INTRINSIC
low complexity region	1312	1326	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111381
AA Change: D293V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107012
Gene: ENSMUSG00000040687
AA Change: D293V

Domain	Start	End	E-Value	Type
uDENN	7	97	7.11e-26	SMART
low complexity region	124	139	N/A	INTRINSIC
DENN	171	401	2.19e-67	SMART
low complexity region	412	428	N/A	INTRINSIC
dDENN	484	554	6.71e-13	SMART
low complexity region	619	639	N/A	INTRINSIC
low complexity region	699	718	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
low complexity region	816	839	N/A	INTRINSIC
low complexity region	928	938	N/A	INTRINSIC
low complexity region	1315	1329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140600

SMART Domains

Protein: ENSMUSP00000117657
Gene: ENSMUSG00000040687

Domain	Start	End	E-Value	Type
Blast:DENN	1	28	7e-10	BLAST
low complexity region	39	55	N/A	INTRINSIC
dDENN	111	165	9.37e-1	SMART
low complexity region	230	250	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth due to respiratory failure, are hyporesponsive to tactile stimuli, and exhibit defects in neurotransmitter release with impaired synaptic vesicle trafficking and depletion of synaptic vesicles at the neuromuscular junction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	A	15: 74,410,170 (GRCm39)	W270R	probably damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
App	A	T	16: 84,775,134 (GRCm39)	V501D	probably benign	Het
Cnot6l	A	G	5: 96,278,927 (GRCm39)	V97A	possibly damaging	Het
Cntrob	A	G	11: 69,191,121 (GRCm39)	L831P	probably damaging	Het
Dmbt1	T	C	7: 130,639,620 (GRCm39)	S53P	probably benign	Het
Dnah2	T	C	11: 69,321,661 (GRCm39)	D3833G	probably damaging	Het
Dock4	T	C	12: 40,838,302 (GRCm39)	L1081P	probably damaging	Het
Dock7	T	C	4: 98,889,335 (GRCm39)	N185D		Het
Dsn1	T	C	2: 156,847,932 (GRCm39)		probably benign	Het
Evpl	T	C	11: 116,113,359 (GRCm39)	T1444A	possibly damaging	Het
Fanci	T	C	7: 79,094,459 (GRCm39)	L1130P	probably benign	Het
Fancm	A	G	12: 65,152,898 (GRCm39)	D1118G	unknown	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gm11596	A	G	11: 99,683,622 (GRCm39)	V166A	unknown	Het
Gm2696	A	T	10: 77,650,723 (GRCm39)	T70S	unknown	Het
Gm5773	A	G	3: 93,680,997 (GRCm39)	E223G	probably damaging	Het
Odam	A	G	5: 88,035,269 (GRCm39)	T78A	possibly damaging	Het
Or52ae9	T	A	7: 103,390,397 (GRCm39)	I17F	probably damaging	Het
Rassf3	A	G	10: 121,252,984 (GRCm39)		probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rhbdf1	T	C	11: 32,159,898 (GRCm39)	Y826C	possibly damaging	Het
Rnf13	C	A	3: 57,671,729 (GRCm39)	Q14K	probably benign	Het
Sec13	A	G	6: 113,706,601 (GRCm39)	S271P	probably damaging	Het
Sema6c	T	C	3: 95,079,620 (GRCm39)	L638P	probably damaging	Het
Sgsh	T	G	11: 119,238,561 (GRCm39)	H301P	probably benign	Het
Shh	T	C	5: 28,666,404 (GRCm39)	M161V	possibly damaging	Het
Stil	C	T	4: 114,887,198 (GRCm39)	H764Y	probably damaging	Het
Vmn1r203	C	T	13: 22,708,705 (GRCm39)	T162I	probably benign	Het
Zfp950	G	T	19: 61,107,938 (GRCm39)	P382T	probably damaging	Het
Zzef1	T	C	11: 72,712,722 (GRCm39)	M214T	probably damaging	Het

Other mutations in Madd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Madd	APN	2	91,006,111 (GRCm39)	unclassified	probably benign
IGL00781:Madd	APN	2	90,977,273 (GRCm39)	missense	probably benign	0.00
IGL00844:Madd	APN	2	90,998,213 (GRCm39)	missense	probably damaging	1.00
IGL00942:Madd	APN	2	91,000,923 (GRCm39)	missense	probably damaging	1.00
IGL01100:Madd	APN	2	90,988,385 (GRCm39)	missense	probably damaging	1.00
IGL01116:Madd	APN	2	90,984,888 (GRCm39)	splice site	probably benign
IGL01694:Madd	APN	2	90,988,320 (GRCm39)	splice site	probably benign
IGL01982:Madd	APN	2	91,006,052 (GRCm39)	missense	probably damaging	1.00
IGL02346:Madd	APN	2	90,992,836 (GRCm39)	missense	probably damaging	0.97
IGL02354:Madd	APN	2	90,992,543 (GRCm39)	missense	probably benign	0.17
IGL02361:Madd	APN	2	90,992,543 (GRCm39)	missense	probably benign	0.17
IGL02481:Madd	APN	2	91,008,381 (GRCm39)	missense	probably damaging	1.00
IGL02483:Madd	APN	2	91,008,381 (GRCm39)	missense	probably damaging	1.00
IGL02948:Madd	APN	2	90,973,172 (GRCm39)	missense	probably benign
IGL03338:Madd	APN	2	90,992,507 (GRCm39)	missense	possibly damaging	0.48
BB015:Madd	UTSW	2	91,007,233 (GRCm39)	missense	probably damaging	1.00
R0026:Madd	UTSW	2	91,006,053 (GRCm39)	missense	possibly damaging	0.88
R0026:Madd	UTSW	2	91,006,053 (GRCm39)	missense	possibly damaging	0.88
R0027:Madd	UTSW	2	90,982,894 (GRCm39)	missense	probably damaging	0.97
R0085:Madd	UTSW	2	90,993,083 (GRCm39)	missense	probably benign	0.00
R0577:Madd	UTSW	2	90,968,740 (GRCm39)	missense	possibly damaging	0.88
R0587:Madd	UTSW	2	90,977,230 (GRCm39)	missense	probably damaging	1.00
R1112:Madd	UTSW	2	90,973,944 (GRCm39)	missense	probably damaging	1.00
R1722:Madd	UTSW	2	90,997,982 (GRCm39)	missense	probably benign
R1750:Madd	UTSW	2	90,998,236 (GRCm39)	missense	probably damaging	0.98
R2061:Madd	UTSW	2	90,991,831 (GRCm39)	intron	probably benign
R2112:Madd	UTSW	2	91,007,321 (GRCm39)	missense	possibly damaging	0.89
R2114:Madd	UTSW	2	90,994,367 (GRCm39)	missense	probably damaging	1.00
R2140:Madd	UTSW	2	90,982,854 (GRCm39)	missense	possibly damaging	0.80
R2276:Madd	UTSW	2	90,974,028 (GRCm39)	missense	possibly damaging	0.67
R2277:Madd	UTSW	2	90,974,028 (GRCm39)	missense	possibly damaging	0.67
R2279:Madd	UTSW	2	90,974,028 (GRCm39)	missense	possibly damaging	0.67
R2424:Madd	UTSW	2	90,996,967 (GRCm39)	missense	probably damaging	1.00
R2904:Madd	UTSW	2	91,006,017 (GRCm39)	missense	probably damaging	1.00
R3122:Madd	UTSW	2	91,006,554 (GRCm39)	missense	probably damaging	1.00
R3836:Madd	UTSW	2	90,984,988 (GRCm39)	critical splice donor site	probably null
R3979:Madd	UTSW	2	91,007,173 (GRCm39)	missense	possibly damaging	0.81
R4151:Madd	UTSW	2	90,973,428 (GRCm39)	missense	probably benign	0.11
R4233:Madd	UTSW	2	91,008,581 (GRCm39)	missense	probably benign	0.26
R4236:Madd	UTSW	2	90,997,373 (GRCm39)	missense	probably benign	0.00
R4299:Madd	UTSW	2	91,000,148 (GRCm39)	missense	probably damaging	1.00
R4334:Madd	UTSW	2	90,970,917 (GRCm39)	missense	probably benign	0.08
R4413:Madd	UTSW	2	90,997,932 (GRCm39)	missense	probably damaging	1.00
R4595:Madd	UTSW	2	90,998,009 (GRCm39)	missense	possibly damaging	0.80
R4694:Madd	UTSW	2	90,990,673 (GRCm39)	missense	probably damaging	0.99
R5410:Madd	UTSW	2	90,984,859 (GRCm39)	missense	probably damaging	1.00
R5490:Madd	UTSW	2	91,000,980 (GRCm39)	missense	possibly damaging	0.80
R5560:Madd	UTSW	2	90,993,890 (GRCm39)	missense	probably damaging	1.00
R5661:Madd	UTSW	2	90,984,778 (GRCm39)	critical splice donor site	probably null
R5710:Madd	UTSW	2	90,984,821 (GRCm39)	missense	probably damaging	1.00
R5730:Madd	UTSW	2	90,988,454 (GRCm39)	missense	probably damaging	1.00
R5759:Madd	UTSW	2	90,992,420 (GRCm39)	missense	possibly damaging	0.94
R5768:Madd	UTSW	2	90,998,174 (GRCm39)	missense	probably damaging	1.00
R5822:Madd	UTSW	2	90,982,878 (GRCm39)	missense	probably damaging	1.00
R6125:Madd	UTSW	2	90,982,797 (GRCm39)	critical splice donor site	probably null
R6151:Madd	UTSW	2	90,995,802 (GRCm39)	nonsense	probably null
R6229:Madd	UTSW	2	90,974,015 (GRCm39)	missense	probably damaging	0.96
R6230:Madd	UTSW	2	90,973,866 (GRCm39)	critical splice donor site	probably null
R6245:Madd	UTSW	2	91,008,449 (GRCm39)	missense	probably benign	0.27
R6323:Madd	UTSW	2	90,991,783 (GRCm39)	splice site	probably null
R6456:Madd	UTSW	2	91,008,536 (GRCm39)	missense	probably benign
R6473:Madd	UTSW	2	90,997,404 (GRCm39)	missense	probably benign
R6878:Madd	UTSW	2	91,000,202 (GRCm39)	missense	probably damaging	1.00
R7060:Madd	UTSW	2	91,007,452 (GRCm39)	missense	probably damaging	1.00
R7065:Madd	UTSW	2	90,985,402 (GRCm39)	missense	probably benign	0.26
R7073:Madd	UTSW	2	90,992,854 (GRCm39)	missense	probably damaging	1.00
R7124:Madd	UTSW	2	90,992,393 (GRCm39)	missense	possibly damaging	0.94
R7251:Madd	UTSW	2	90,992,521 (GRCm39)	missense	probably benign	0.01
R7510:Madd	UTSW	2	91,008,321 (GRCm39)	missense	possibly damaging	0.80
R7605:Madd	UTSW	2	91,000,055 (GRCm39)	missense	possibly damaging	0.90
R7911:Madd	UTSW	2	90,997,853 (GRCm39)	missense	probably null	0.01
R7928:Madd	UTSW	2	91,007,233 (GRCm39)	missense	probably damaging	1.00
R7952:Madd	UTSW	2	90,992,886 (GRCm39)	missense	probably damaging	1.00
R8039:Madd	UTSW	2	90,997,406 (GRCm39)	missense	probably benign	0.17
R8047:Madd	UTSW	2	91,009,546 (GRCm39)	missense	probably damaging	1.00
R8048:Madd	UTSW	2	90,984,793 (GRCm39)	missense	probably damaging	0.99
R8070:Madd	UTSW	2	90,988,359 (GRCm39)	nonsense	probably null
R8090:Madd	UTSW	2	90,985,968 (GRCm39)	missense	probably benign	0.01
R8335:Madd	UTSW	2	91,000,584 (GRCm39)	missense	probably damaging	1.00
R8459:Madd	UTSW	2	90,992,871 (GRCm39)	missense	probably benign
R8678:Madd	UTSW	2	91,006,610 (GRCm39)	missense	probably damaging	1.00
R8920:Madd	UTSW	2	91,007,168 (GRCm39)	missense	probably benign	0.04
R9003:Madd	UTSW	2	90,988,359 (GRCm39)	nonsense	probably null
R9102:Madd	UTSW	2	90,988,404 (GRCm39)	missense	probably benign	0.00
R9154:Madd	UTSW	2	90,998,162 (GRCm39)	missense	probably damaging	1.00
R9242:Madd	UTSW	2	90,973,949 (GRCm39)	missense	probably damaging	0.99
R9277:Madd	UTSW	2	91,006,055 (GRCm39)	missense	probably damaging	1.00
R9394:Madd	UTSW	2	91,000,199 (GRCm39)	missense	probably benign
R9490:Madd	UTSW	2	91,008,501 (GRCm39)	missense	probably benign
R9499:Madd	UTSW	2	91,000,434 (GRCm39)	missense	probably damaging	1.00
R9551:Madd	UTSW	2	91,000,434 (GRCm39)	missense	probably damaging	1.00
R9553:Madd	UTSW	2	91,008,800 (GRCm39)	missense	probably damaging	1.00
R9599:Madd	UTSW	2	91,006,026 (GRCm39)	missense	probably damaging	1.00
R9695:Madd	UTSW	2	90,992,929 (GRCm39)	missense	probably benign	0.17
R9729:Madd	UTSW	2	91,000,544 (GRCm39)	missense	possibly damaging	0.60
X0067:Madd	UTSW	2	90,982,818 (GRCm39)	missense	probably damaging	1.00
Z1176:Madd	UTSW	2	90,989,617 (GRCm39)	missense	probably damaging	0.96
Z1177:Madd	UTSW	2	90,973,176 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCCTGGTTCTCAAGGGACTC -3'
(R):5'- TCCTTAGGGACACCATGTGG -3'

Sequencing Primer
(F):5'- GTTCTCAAGGGACTCATGACCTAG -3'
(R):5'- GGACACCATGTGGCGAATCTTTAC -3'

Posted On

2020-08-01