Mutagenetix > Incidental Mutation

Incidental Mutation 'R4596:Adad1'

344367

Institutional Source

Beutler Lab

Gene Symbol

Adad1

Ensembl Gene

ENSMUSG00000027719

Gene Name

adenosine deaminase domain containing 1

Synonyms

MMRRC Submission

041812-MU

Accession Numbers

Essential gene?

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

Stock #

R4596 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37117805-37165661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37119341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 141 (S141P)

Ref Sequence

ENSEMBL: ENSMUSP00000115260 (fasta)

Gene Model

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

AlphaFold

Q5SUE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029274
AA Change: S81P

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

SMART Domains

Protein: ENSMUSP00000029274
Gene: ENSMUSG00000027719
AA Change: S81P

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

noncoding transcript
Transcript: ENSMUST00000141736

Predicted Effect

probably damaging
Transcript: ENSMUST00000144629
AA Change: S141P

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

SMART Domains

Protein: ENSMUSP00000115260
Gene: ENSMUSG00000027719
AA Change: S141P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,088 (GRCm39)	K429E	probably benign	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Anapc4	T	C	5: 52,999,060 (GRCm39)	V124A	probably benign	Het
Anxa6	G	T	11: 54,885,409 (GRCm39)		probably null	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arhgef40	T	C	14: 52,224,681 (GRCm39)		probably null	Het
Asz1	A	T	6: 18,103,592 (GRCm39)	I116K	possibly damaging	Het
Bcam	T	C	7: 19,498,082 (GRCm39)	N314D	probably damaging	Het
Cfi	T	C	3: 129,662,149 (GRCm39)	V376A	probably damaging	Het
Cipc	A	G	12: 87,008,728 (GRCm39)	T196A	probably benign	Het
Cnksr1	A	G	4: 133,961,189 (GRCm39)	V225A	possibly damaging	Het
Col4a4	G	A	1: 82,448,940 (GRCm39)	P1217S	unknown	Het
Dync2h1	C	T	9: 6,992,595 (GRCm39)	D3996N	probably benign	Het
Fasl	T	C	1: 161,615,838 (GRCm39)	N6S	probably benign	Het
Fhod3	A	T	18: 25,248,775 (GRCm39)	Q1318L	probably benign	Het
Gmps	G	T	3: 63,901,338 (GRCm39)	E386*	probably null	Het
Hspa13	C	T	16: 75,555,114 (GRCm39)	G324D	probably benign	Het
Ift80	A	G	3: 68,898,092 (GRCm39)	V81A	probably benign	Het
Itgb1bp1	C	A	12: 21,322,135 (GRCm39)	L101F	probably damaging	Het
Jak3	T	A	8: 72,137,275 (GRCm39)	S779T	probably damaging	Het
Klhl21	G	T	4: 152,096,997 (GRCm39)	R421L	probably benign	Het
Mgat4c	T	C	10: 102,224,422 (GRCm39)	F212S	probably damaging	Het
Msl3l2	T	A	10: 55,991,741 (GRCm39)	F155L	probably benign	Het
Nfat5	A	G	8: 108,078,132 (GRCm39)	K406E	possibly damaging	Het
Nsd2	A	T	5: 34,040,262 (GRCm39)	H933L	probably damaging	Het
Or4c31	A	G	2: 88,292,538 (GRCm39)	T304A	probably benign	Het
Or51h5	A	G	7: 102,577,458 (GRCm39)	T208A	possibly damaging	Het
Or6f1	A	T	7: 85,970,631 (GRCm39)	H176Q	probably damaging	Het
Or9q2	G	A	19: 13,772,264 (GRCm39)	T237I	probably damaging	Het
Paxbp1	T	C	16: 90,827,435 (GRCm39)	I467V	probably benign	Het
Pcdha8	A	C	18: 37,126,611 (GRCm39)	Q364H	possibly damaging	Het
Prr14l	T	C	5: 32,986,652 (GRCm39)	T948A	probably benign	Het
Ptgfr	A	T	3: 151,507,430 (GRCm39)	V311D	probably damaging	Het
Ptpn13	A	G	5: 103,671,558 (GRCm39)	Y495C	probably benign	Het
Sec61g	A	T	11: 16,458,127 (GRCm39)	S23T	probably benign	Het
Sema3a	G	T	5: 13,620,125 (GRCm39)	V458F	probably damaging	Het
Slc16a14	T	A	1: 84,907,078 (GRCm39)	E65D	probably damaging	Het
Slc35f6	T	C	5: 30,805,406 (GRCm39)	M14T	probably damaging	Het
Slc4a10	A	T	2: 62,127,202 (GRCm39)	I882F	probably damaging	Het
Sox17	C	A	1: 4,562,860 (GRCm39)	E48D	possibly damaging	Het
Thbs1	A	T	2: 117,945,236 (GRCm39)	I270F	possibly damaging	Het
Tia1	A	G	6: 86,397,389 (GRCm39)	I121V	probably benign	Het
Trim30d	A	T	7: 104,121,733 (GRCm39)	H337Q	probably benign	Het
Tvp23b	G	A	11: 62,774,544 (GRCm39)	A63T	probably benign	Het
U2surp	C	T	9: 95,367,681 (GRCm39)	V437I	probably damaging	Het
Ube2i	T	C	17: 25,484,298 (GRCm39)		probably benign	Het
Vmn1r62	A	G	7: 5,678,306 (GRCm39)		probably benign	Het
Wdr3	G	A	3: 100,060,183 (GRCm39)	S310F	possibly damaging	Het
Wdr72	A	T	9: 74,058,887 (GRCm39)	M327L	probably benign	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
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
R9443:Adad1	UTSW	3	37,146,140 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAACTGTCTAGTAGGAACTTGGGG -3'
(R):5'- GATCAACACTGACAGAAATGTGTC -3'

Sequencing Primer
(F):5'- GGGAAAACATGCTTATTGTATAAGGG -3'
(R):5'- CCTATTTAACCTTAACATTGTGTGTG -3'

Posted On

2015-09-25