Mutagenetix > Incidental Mutation

Incidental Mutation 'R4022:D17Wsu92e'

313323

Institutional Source

Beutler Lab

Gene Symbol

D17Wsu92e

Ensembl Gene

ENSMUSG00000056692

Gene Name

DNA segment, Chr 17, Wayne State University 92, expressed

Synonyms

MMRRC Submission

040956-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4022 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

27751232-27820558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27786262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 107 (E107G)

Ref Sequence

ENSEMBL: ENSMUSP00000110513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075076] [ENSMUST00000114859] [ENSMUST00000114863]

AlphaFold

Q3TT38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075076
AA Change: E107G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: E107G

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	68	1.6e-13	PFAM
Pfam:N_BRCA1_IG	80	179	1.6e-37	PFAM
low complexity region	257	276	N/A	INTRINSIC
low complexity region	282	291	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114859
AA Change: E107G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692
AA Change: E107G

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	5.1e-15	PFAM
PDB:4OLE\|D	74	180	2e-9	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000114863
AA Change: E107G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
AA Change: E107G

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	2.2e-14	PFAM
PDB:4OLE\|D	74	180	8e-9	PDB
low complexity region	257	276	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121414

Meta Mutation Damage Score

0.5655

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	T	A	2: 26,843,800 (GRCm38)	Y131F	probably damaging	Het
Adcy4	C	T	14: 55,775,178 (GRCm38)		probably null	Het
Ago3	T	A	4: 126,368,593 (GRCm38)	N388I	probably benign	Het
Arfgef2	G	T	2: 166,873,945 (GRCm38)	V1385L	probably benign	Het
Camk2a	A	T	18: 60,963,928 (GRCm38)	K28*	probably null	Het
Ccdc180	T	A	4: 45,904,560 (GRCm38)	Y385*	probably null	Het
Cd209g	A	T	8: 4,135,955 (GRCm38)	Q46L	possibly damaging	Het
Cdh22	T	C	2: 165,157,253 (GRCm38)	T220A	probably benign	Het
Cltc	A	T	11: 86,720,348 (GRCm38)	C562S	probably damaging	Het
Cyp2c55	T	A	19: 39,035,434 (GRCm38)		probably null	Het
Cyp2d34	A	G	15: 82,618,608 (GRCm38)	V139A	probably benign	Het
Ddias	G	T	7: 92,861,478 (GRCm38)	D105E	possibly damaging	Het
Dhx30	T	C	9: 110,084,397 (GRCm38)	D1223G	possibly damaging	Het
Dnajb11	A	G	16: 22,869,446 (GRCm38)	D238G	probably damaging	Het
Entpd7	G	A	19: 43,691,158 (GRCm38)	R50Q	probably benign	Het
Erbb2	T	G	11: 98,435,297 (GRCm38)	C966W	probably benign	Het
Exoc1	C	T	5: 76,549,570 (GRCm38)	T405I	possibly damaging	Het
Fbxo28	T	C	1: 182,329,910 (GRCm38)	N108S	possibly damaging	Het
Fhdc1	T	C	3: 84,445,102 (GRCm38)	E157G	probably benign	Het
Gstcd	C	T	3: 133,082,068 (GRCm38)	V290M	probably damaging	Het
Hps3	A	G	3: 20,035,261 (GRCm38)	V2A	possibly damaging	Het
Itsn2	G	A	12: 4,624,927 (GRCm38)	R23H	probably damaging	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lax1	C	T	1: 133,683,036 (GRCm38)	G105S	probably benign	Het
Lin7c	G	T	2: 109,896,445 (GRCm38)		probably null	Het
Lrrn2	T	C	1: 132,939,114 (GRCm38)	V639A	probably benign	Het
Luzp1	T	C	4: 136,542,193 (GRCm38)	S576P	probably benign	Het
Mast4	G	T	13: 102,853,869 (GRCm38)	A48E	probably damaging	Het
Mast4	G	A	13: 102,739,321 (GRCm38)	R1112*	probably null	Het
Mat2a	G	A	6: 72,436,244 (GRCm38)	R168C	probably damaging	Het
Megf8	T	C	7: 25,337,775 (GRCm38)	V700A	probably damaging	Het
Mroh2a	G	C	1: 88,246,042 (GRCm38)	A871P	probably damaging	Het
Myh2	G	T	11: 67,179,404 (GRCm38)	E421*	probably null	Het
Olfr102	T	A	17: 37,314,274 (GRCm38)	I37L	probably benign	Het
Olfr181	T	C	16: 58,926,120 (GRCm38)	I150M	possibly damaging	Het
Pecam1	T	C	11: 106,655,160 (GRCm38)	N693D	probably benign	Het
Ppip5k1	C	T	2: 121,337,627 (GRCm38)	R715H	probably damaging	Het
Prune2	A	G	19: 17,000,020 (GRCm38)	T40A	probably damaging	Het
Ranbp17	G	A	11: 33,479,189 (GRCm38)	A352V	probably benign	Het
Reln	T	C	5: 22,227,630 (GRCm38)	Q124R	probably benign	Het
Rnf17	C	T	14: 56,460,001 (GRCm38)	H451Y	probably damaging	Het
Ryr3	C	G	2: 112,675,873 (GRCm38)	R3443P	probably damaging	Het
Sall3	T	A	18: 80,969,840 (GRCm38)	E1127V	probably benign	Het
Sertad3	A	G	7: 27,476,695 (GRCm38)	N185D	probably damaging	Het
Sox1	A	G	8: 12,396,719 (GRCm38)	Y120C	probably damaging	Het
Spag17	A	T	3: 100,049,230 (GRCm38)	I881F	probably benign	Het
Spg20	G	T	3: 55,117,736 (GRCm38)	V251L	probably damaging	Het
Stard9	A	G	2: 120,704,155 (GRCm38)	E3631G	probably benign	Het
Syde2	A	G	3: 146,015,725 (GRCm38)	T848A	probably benign	Het
Tmem11	T	C	11: 60,865,328 (GRCm38)	D12G	possibly damaging	Het
Trim28	T	C	7: 13,028,558 (GRCm38)		probably benign	Het
Tsen2	T	A	6: 115,547,987 (GRCm38)	V49E	probably damaging	Het
Tspan1	C	T	4: 116,167,035 (GRCm38)	M10I	probably benign	Het
Uncx	A	T	5: 139,546,689 (GRCm38)	T170S	probably damaging	Het
Usp24	T	C	4: 106,379,224 (GRCm38)		probably benign	Het
Vmn1r84	T	C	7: 12,361,930 (GRCm38)	I267V	probably benign	Het
Zfp488	T	A	14: 33,971,153 (GRCm38)	M18L	probably benign	Het

Other mutations in D17Wsu92e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:D17Wsu92e	APN	17	27,767,919 (GRCm38)	missense	probably damaging	1.00
IGL01107:D17Wsu92e	APN	17	27,786,069 (GRCm38)	critical splice donor site	probably null
IGL01805:D17Wsu92e	APN	17	27,767,906 (GRCm38)	splice site	probably benign
detroit	UTSW	17	27,794,070 (GRCm38)	splice site	probably null
michigander	UTSW	17	27,767,986 (GRCm38)	missense	probably benign	0.12
R0423:D17Wsu92e	UTSW	17	27,786,233 (GRCm38)	missense	probably damaging	1.00
R0833:D17Wsu92e	UTSW	17	27,786,138 (GRCm38)	missense	probably damaging	1.00
R0836:D17Wsu92e	UTSW	17	27,786,138 (GRCm38)	missense	probably damaging	1.00
R1055:D17Wsu92e	UTSW	17	27,767,936 (GRCm38)	missense	probably damaging	1.00
R1251:D17Wsu92e	UTSW	17	27,786,070 (GRCm38)	critical splice donor site	probably null
R1646:D17Wsu92e	UTSW	17	27,793,960 (GRCm38)	missense	probably damaging	1.00
R4604:D17Wsu92e	UTSW	17	27,820,315 (GRCm38)	missense	probably damaging	1.00
R5360:D17Wsu92e	UTSW	17	27,794,046 (GRCm38)	missense	probably damaging	1.00
R6210:D17Wsu92e	UTSW	17	27,767,986 (GRCm38)	missense	probably benign	0.12
R7201:D17Wsu92e	UTSW	17	27,794,070 (GRCm38)	splice site	probably null
R7994:D17Wsu92e	UTSW	17	27,767,943 (GRCm38)	missense	probably benign
R8057:D17Wsu92e	UTSW	17	27,767,889 (GRCm38)	missense	unknown
R8767:D17Wsu92e	UTSW	17	27,768,069 (GRCm38)	missense	probably benign	0.01
R9269:D17Wsu92e	UTSW	17	27,786,075 (GRCm38)	nonsense	probably null
R9629:D17Wsu92e	UTSW	17	27,793,939 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCCATCATGAGGACACACTC -3'
(R):5'- TGTTACCCACGGAACCATTTC -3'

Sequencing Primer
(F):5'- CTCCATAGTAGAGTCCAGTAGCAGTG -3'
(R):5'- GGAACCATTTCTCCCACCTCAC -3'

Posted On

2015-04-30