Mutagenetix > Incidental Mutation

Incidental Mutation 'R9443:Adad1'

713729

Institutional Source

Beutler Lab

Gene Symbol

Adad1

Ensembl Gene

ENSMUSG00000027719

Gene Name

adenosine deaminase domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

R9443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37117805-37165661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37146140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 503 (Y503H)

Ref Sequence

ENSEMBL: ENSMUSP00000115260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029274] [ENSMUST00000144629]

AlphaFold

Q5SUE7

Predicted Effect

probably benign
Transcript: ENSMUST00000029274
AA Change: Y432H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029274
Gene: ENSMUSG00000027719
AA Change: Y432H

Domain	Start	End	E-Value	Type
DSRM	79	145	4.04e-15	SMART
low complexity region	154	176	N/A	INTRINSIC
ADEAMc	186	547	2.51e-165	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144629
AA Change: Y503H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000115260
Gene: ENSMUSG00000027719
AA Change: Y503H

Domain	Start	End	E-Value	Type
Blast:DSRM	51	108	5e-20	BLAST
DSRM	139	205	4.04e-15	SMART
low complexity region	214	236	N/A	INTRINSIC
ADEAMc	246	618	4.77e-180	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121015
Gene: ENSMUSG00000027719
AA Change: Y67H

Domain	Start	End	E-Value	Type
Pfam:A_deamin	1	176	1.3e-49	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous for a mutated allele have reduced sperm counts and motility, and increased sperm malformation resulting in background dependent sterility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	T	C	12: 88,338,550 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,879,859 (GRCm39)	D337G	probably damaging	Het
Afg1l	G	A	10: 42,189,587 (GRCm39)	T448M	probably damaging	Het
Aqp6	T	C	15: 99,499,409 (GRCm39)	S41P		Het
Atad5	T	G	11: 80,023,388 (GRCm39)	V1500G	probably benign	Het
B3galt9	C	T	2: 34,728,623 (GRCm39)	Q141*	probably null	Het
Btbd18	T	A	2: 84,497,524 (GRCm39)	D387E	probably benign	Het
Catsperd	A	G	17: 56,969,720 (GRCm39)	N605D	possibly damaging	Het
Ccdc24	C	T	4: 117,728,355 (GRCm39)	V102I	probably benign	Het
Cenpe	T	A	3: 134,976,609 (GRCm39)	D2405E	probably damaging	Het
Cfap46	T	C	7: 139,195,023 (GRCm39)	D2249G		Het
Chrm1	A	T	19: 8,655,550 (GRCm39)	Y85F	possibly damaging	Het
Clstn3	C	T	6: 124,428,358 (GRCm39)	G465S	probably damaging	Het
Col7a1	G	A	9: 108,785,059 (GRCm39)	G262D	unknown	Het
Copg2	T	C	6: 30,750,578 (GRCm39)	T736A	probably benign	Het
Coro2b	T	C	9: 62,333,080 (GRCm39)	E435G	probably benign	Het
Cp	A	T	3: 20,033,083 (GRCm39)	I637F	possibly damaging	Het
Cpne7	T	C	8: 123,853,411 (GRCm39)	F239L	probably damaging	Het
Cstdc2	C	T	2: 148,689,878 (GRCm39)	E92K	probably damaging	Het
Cul2	T	A	18: 3,434,041 (GRCm39)	Y679*	probably null	Het
Dhx8	T	C	11: 101,655,740 (GRCm39)	Y1158H	probably damaging	Het
Eda	G	T	X: 99,019,775 (GRCm39)	R130L	unknown	Het
Elp6	T	A	9: 110,150,004 (GRCm39)	V265D	probably damaging	Het
Eomes	A	G	9: 118,313,640 (GRCm39)	T562A		Het
Fam187b	A	T	7: 30,677,067 (GRCm39)	E192V	probably damaging	Het
Foxi1	T	C	11: 34,155,671 (GRCm39)	T320A	probably benign	Het
Gga1	C	T	15: 78,765,247 (GRCm39)	T18I	possibly damaging	Het
Grik4	T	A	9: 42,571,037 (GRCm39)	M223L	probably benign	Het
Hdac7	T	C	15: 97,700,352 (GRCm39)	N594S	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Itpr3	T	G	17: 27,324,523 (GRCm39)	F1235C	probably damaging	Het
Klhdc4	A	G	8: 122,523,765 (GRCm39)	S484P	possibly damaging	Het
Kmt2c	A	G	5: 25,515,045 (GRCm39)	S2933P	probably damaging	Het
Lama5	T	A	2: 179,843,522 (GRCm39)	H475L	probably benign	Het
Ly6g6f	A	G	17: 35,299,826 (GRCm39)	L292P	possibly damaging	Het
Macf1	T	A	4: 123,365,668 (GRCm39)	Q3031L	probably benign	Het
Mbd5	T	G	2: 49,146,712 (GRCm39)	S307R	probably damaging	Het
Mertk	T	C	2: 128,604,029 (GRCm39)	F388L	probably benign	Het
Mmp11	A	G	10: 75,762,733 (GRCm39)	F240S	probably damaging	Het
Mroh1	T	A	15: 76,318,964 (GRCm39)	F949I	probably damaging	Het
Mroh2b	T	C	15: 4,973,821 (GRCm39)	L1113P	probably damaging	Het
Ndufv1	C	A	19: 4,057,614 (GRCm39)	A454S	probably benign	Het
Or13e8	A	G	4: 43,696,591 (GRCm39)	L194P	probably damaging	Het
Or56b2j	T	C	7: 104,352,821 (GRCm39)	S16P	probably benign	Het
Or5d46	T	A	2: 88,170,364 (GRCm39)	W152R	probably damaging	Het
Osbpl1a	C	A	18: 13,031,244 (GRCm39)	D329Y	probably benign	Het
Pcdh1	C	A	18: 38,330,633 (GRCm39)	R929L	probably damaging	Het
Phactr2	C	T	10: 13,122,841 (GRCm39)	R427K	probably benign	Het
Pip5k1c	T	C	10: 81,153,184 (GRCm39)	Y670H	probably damaging	Het
Plbd1	T	A	6: 136,611,555 (GRCm39)	N241Y	probably damaging	Het
Pmvk	C	A	3: 89,374,956 (GRCm39)	Q139K	probably benign	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Rab3gap2	T	A	1: 184,967,523 (GRCm39)	C136S	probably damaging	Het
Rcor3	A	G	1: 191,786,050 (GRCm39)	V396A	probably damaging	Het
Rgs20	C	A	1: 4,982,629 (GRCm39)	E147*	probably null	Het
Rnf167	G	T	11: 70,540,777 (GRCm39)	L170F	probably damaging	Het
Scn9a	T	C	2: 66,395,553 (GRCm39)	T164A	probably damaging	Het
Skic3	A	G	13: 76,266,288 (GRCm39)	Q210R	probably benign	Het
Slc52a3	A	T	2: 151,846,299 (GRCm39)	I87F	probably benign	Het
Sntn	A	T	14: 13,682,364 (GRCm38)	M146L		Het
Svep1	C	T	4: 58,179,697 (GRCm39)	R182H	possibly damaging	Het
Taar7f	A	G	10: 23,926,311 (GRCm39)	I302V	probably benign	Het
Tm4sf20	T	C	1: 82,746,090 (GRCm39)	I17V	probably benign	Het
Traf1	T	C	2: 34,836,748 (GRCm39)	T270A	probably benign	Het
Trpm5	C	T	7: 142,638,860 (GRCm39)	E304K	probably benign	Het
Ttll8	T	C	15: 88,809,863 (GRCm39)	D311G	possibly damaging	Het
Unc79	T	A	12: 103,037,035 (GRCm39)	F608I	probably damaging	Het
Vmn2r11	A	T	5: 109,195,159 (GRCm39)	C722*	probably null	Het
Wdr7	A	G	18: 63,853,407 (GRCm39)	T36A	probably damaging	Het
Ybx2	C	T	11: 69,831,188 (GRCm39)	P261L		Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp260	T	C	7: 29,804,249 (GRCm39)	S50P	probably benign	Het
Zfp319	A	T	8: 96,054,922 (GRCm39)	F427Y	probably benign	Het
Zfp369	T	C	13: 65,444,347 (GRCm39)	S497P	possibly damaging	Het

Other mutations in Adad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:Adad1	APN	3	37,146,183 (GRCm39)	missense	probably damaging	1.00
IGL01903:Adad1	APN	3	37,139,231 (GRCm39)	splice site	probably null
IGL02501:Adad1	APN	3	37,137,489 (GRCm39)	missense	probably damaging	0.99
IGL02703:Adad1	APN	3	37,118,390 (GRCm39)	missense	probably damaging	1.00
IGL03354:Adad1	APN	3	37,160,322 (GRCm39)	missense	probably damaging	1.00
R0042:Adad1	UTSW	3	37,137,322 (GRCm39)	unclassified	probably benign
R0233:Adad1	UTSW	3	37,139,097 (GRCm39)	missense	possibly damaging	0.91
R0233:Adad1	UTSW	3	37,139,097 (GRCm39)	missense	possibly damaging	0.91
R0928:Adad1	UTSW	3	37,130,889 (GRCm39)	critical splice donor site	probably null
R1704:Adad1	UTSW	3	37,146,164 (GRCm39)	missense	probably benign
R4081:Adad1	UTSW	3	37,118,512 (GRCm39)	splice site	probably null
R4596:Adad1	UTSW	3	37,119,341 (GRCm39)	missense	probably damaging	1.00
R4613:Adad1	UTSW	3	37,146,182 (GRCm39)	missense	probably damaging	1.00
R4810:Adad1	UTSW	3	37,146,183 (GRCm39)	missense	probably damaging	1.00
R4855:Adad1	UTSW	3	37,139,260 (GRCm39)	missense	probably damaging	1.00
R4884:Adad1	UTSW	3	37,130,813 (GRCm39)	missense	possibly damaging	0.94
R5025:Adad1	UTSW	3	37,119,359 (GRCm39)	missense	probably damaging	0.97
R5286:Adad1	UTSW	3	37,119,399 (GRCm39)	missense	possibly damaging	0.75
R5356:Adad1	UTSW	3	37,119,405 (GRCm39)	missense	probably damaging	1.00
R5948:Adad1	UTSW	3	37,137,504 (GRCm39)	critical splice donor site	probably null
R6091:Adad1	UTSW	3	37,139,118 (GRCm39)	missense	possibly damaging	0.93
R7230:Adad1	UTSW	3	37,119,315 (GRCm39)	missense	probably damaging	1.00
R7882:Adad1	UTSW	3	37,133,951 (GRCm39)	missense	probably damaging	1.00
R7994:Adad1	UTSW	3	37,146,120 (GRCm39)	missense	possibly damaging	0.67
R8342:Adad1	UTSW	3	37,134,050 (GRCm39)	missense	probably damaging	1.00
R9080:Adad1	UTSW	3	37,119,398 (GRCm39)	missense	probably benign	0.34
R9267:Adad1	UTSW	3	37,139,074 (GRCm39)	unclassified	probably benign
R9337:Adad1	UTSW	3	37,139,247 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GAAGTGAGCTTTAGATTGGTTACAG -3'
(R):5'- TATGATGCTAGCAACTGGCCAC -3'

Sequencing Primer
(F):5'- TGAGCTTTAGATTGGTTACAGTTAAC -3'
(R):5'- CTGGCCACACTCAATAAAAATTGTTC -3'

Posted On

2022-06-15