Mutagenetix > Incidental Mutation

Incidental Mutation 'R8917:Adam1a'

678989

Institutional Source

Beutler Lab

Gene Symbol

Adam1a

Ensembl Gene

ENSMUSG00000072647

Gene Name

a disintegrin and metallopeptidase domain 1a

Synonyms

fertilin alpha, Ftna, PH-30 alpha

MMRRC Submission

068704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121656667-121659758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121657145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 716 (R716Q)

Ref Sequence

ENSEMBL: ENSMUSP00000098320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100757] [ENSMUST00000111795] [ENSMUST00000125946] [ENSMUST00000156080] [ENSMUST00000200170]

AlphaFold

Q60813

Predicted Effect

probably benign
Transcript: ENSMUST00000100757
AA Change: R716Q

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: R716Q

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	70	191	1.5e-18	PFAM
Pfam:Reprolysin_5	233	410	2.8e-15	PFAM
Pfam:Reprolysin_4	234	421	6.3e-9	PFAM
Pfam:Reprolysin	235	429	1.3e-70	PFAM
Pfam:Reprolysin_3	255	381	3.8e-14	PFAM
Pfam:Reprolysin_2	255	419	5.6e-9	PFAM
DISIN	447	520	6.45e-37	SMART
ACR	521	660	4.59e-62	SMART
EGF	666	697	1.99e1	SMART
transmembrane domain	741	763	N/A	INTRINSIC
low complexity region	764	791	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111795

SMART Domains

Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125946

SMART Domains

Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340

Domain	Start	End	E-Value	Type
S_TKc	22	304	5.3e-84	SMART
coiled coil region	407	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156080

SMART Domains

Protein: ENSMUSP00000121579
Gene: ENSMUSG00000029452

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
transmembrane domain	140	162	N/A	INTRINSIC
transmembrane domain	205	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200170

SMART Domains

Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647

Domain	Start	End	E-Value	Type
S_TKc	22	304	8.22e-84	SMART
coiled coil region	407	432	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Homozygous null mice display male infertility with asthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610528J11Rik	A	G	4: 118,386,490 (GRCm39)	M1V	probably null	Het
Acss3	T	C	10: 106,773,124 (GRCm39)	S621G	probably benign	Het
Ankrd26	G	T	6: 118,535,902 (GRCm39)	N177K	probably damaging	Het
Ankrd31	G	A	13: 96,969,212 (GRCm39)	V950I	probably damaging	Het
Ano4	A	G	10: 88,788,160 (GRCm39)	Y922H	probably damaging	Het
Axin2	A	T	11: 108,822,341 (GRCm39)	N298Y	probably damaging	Het
Celsr2	A	T	3: 108,303,882 (GRCm39)	M2392K	probably benign	Het
Coasy	A	G	11: 100,974,202 (GRCm39)	S123G	probably benign	Het
Cracdl	A	G	1: 37,676,993 (GRCm39)	V63A	probably damaging	Het
Ctla2a	A	T	13: 61,083,854 (GRCm39)	M26K	probably benign	Het
Cts8	A	T	13: 61,396,882 (GRCm39)		probably benign	Het
Cyp4a30b	C	A	4: 115,311,662 (GRCm39)	S110*	probably null	Het
Eif2ak4	A	G	2: 118,287,617 (GRCm39)	Y1195C	probably damaging	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Exoc6	A	G	19: 37,578,360 (GRCm39)	D401G	probably benign	Het
Fmo1	A	G	1: 162,663,773 (GRCm39)	V252A	probably benign	Het
Furin	T	C	7: 80,048,437 (GRCm39)	K28E	probably benign	Het
Gmip	T	A	8: 70,270,428 (GRCm39)	F713I	probably damaging	Het
Hyal6	T	C	6: 24,734,103 (GRCm39)	L12P	possibly damaging	Het
Ido1	T	C	8: 25,081,523 (GRCm39)	N144D	probably benign	Het
Igsf10	T	A	3: 59,226,888 (GRCm39)	T2262S	possibly damaging	Het
Insrr	T	C	3: 87,718,276 (GRCm39)	F923S	probably benign	Het
Kank1	G	T	19: 25,386,928 (GRCm39)	M200I	probably damaging	Het
Kctd15	A	G	7: 34,341,508 (GRCm39)	Y140H	probably damaging	Het
Kif3c	T	A	12: 3,416,690 (GRCm39)	I237N	probably damaging	Het
Klhl26	T	C	8: 70,905,455 (GRCm39)	S152G	possibly damaging	Het
Lce1k	C	A	3: 92,714,097 (GRCm39)	C29F	unknown	Het
Map1a	A	G	2: 121,131,791 (GRCm39)	E869G	possibly damaging	Het
Mcmbp	T	C	7: 128,300,281 (GRCm39)	E576G	probably benign	Het
Mrps22	A	G	9: 98,476,163 (GRCm39)	V231A	probably benign	Het
Myo1a	C	T	10: 127,551,534 (GRCm39)	L697F	possibly damaging	Het
Ncapd3	T	C	9: 26,999,297 (GRCm39)	V1291A	probably benign	Het
Nherf4	T	A	9: 44,160,141 (GRCm39)		probably benign	Het
Or9m1	A	T	2: 87,733,307 (GRCm39)	S238T	possibly damaging	Het
Pcdhb6	A	G	18: 37,468,431 (GRCm39)	T451A	possibly damaging	Het
Pi4ka	C	A	16: 17,130,310 (GRCm39)	W1032L		Het
Pkhd1l1	T	A	15: 44,396,403 (GRCm39)	I1975N	probably benign	Het
Pnpla6	T	C	8: 3,567,637 (GRCm39)	M115T	possibly damaging	Het
Poldip2	G	A	11: 78,412,667 (GRCm39)	R347Q	probably damaging	Het
Pramel18	G	A	4: 101,768,935 (GRCm39)	V429M	probably benign	Het
Rapgef6	C	T	11: 54,582,392 (GRCm39)	Q1440*	probably null	Het
Rtn3	A	T	19: 7,434,105 (GRCm39)	I629K	possibly damaging	Het
Selenov	A	G	7: 27,987,728 (GRCm39)	F278L	probably damaging	Het
Skor2	G	A	18: 76,948,504 (GRCm39)	G742D	probably damaging	Het
Spata31d1c	C	T	13: 65,183,429 (GRCm39)	P324S	probably benign	Het
Tbc1d14	A	T	5: 36,676,682 (GRCm39)	I403N	probably damaging	Het
Tekt3	A	T	11: 62,978,052 (GRCm39)	Q374L	probably damaging	Het
Tg	T	C	15: 66,645,332 (GRCm39)		probably null	Het
Thnsl2	T	C	6: 71,116,927 (GRCm39)	D75G	probably benign	Het
Tnr	A	T	1: 159,701,692 (GRCm39)	K598*	probably null	Het
Tshr	T	A	12: 91,468,829 (GRCm39)		probably benign	Het
Uggt1	A	G	1: 36,185,735 (GRCm39)	S1483P		Het
Usp42	T	C	5: 143,701,695 (GRCm39)	E776G		Het
Vmn2r118	T	C	17: 55,917,216 (GRCm39)	E432G	possibly damaging	Het
Vmn2r-ps158	T	C	7: 42,697,433 (GRCm39)	I830T	probably damaging	Het
Zfhx4	A	G	3: 5,464,159 (GRCm39)	E1464G	probably damaging	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zxdc	A	G	6: 90,359,305 (GRCm39)	T646A	probably benign	Het

Other mutations in Adam1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:Adam1a	APN	5	121,657,439 (GRCm39)	missense	probably benign	0.09
IGL01467:Adam1a	APN	5	121,657,791 (GRCm39)	missense	probably damaging	1.00
IGL02158:Adam1a	APN	5	121,657,034 (GRCm39)	nonsense	probably null
R1468:Adam1a	UTSW	5	121,657,839 (GRCm39)	splice site	probably null
R1468:Adam1a	UTSW	5	121,657,839 (GRCm39)	splice site	probably null
R1593:Adam1a	UTSW	5	121,657,706 (GRCm39)	missense	probably benign	0.02
R1848:Adam1a	UTSW	5	121,657,683 (GRCm39)	missense	probably damaging	1.00
R1925:Adam1a	UTSW	5	121,657,513 (GRCm39)	nonsense	probably null
R2176:Adam1a	UTSW	5	121,657,649 (GRCm39)	missense	probably benign	0.01
R2232:Adam1a	UTSW	5	121,657,795 (GRCm39)	missense	possibly damaging	0.93
R3692:Adam1a	UTSW	5	121,657,385 (GRCm39)	missense	probably damaging	1.00
R4732:Adam1a	UTSW	5	121,657,497 (GRCm39)	missense	probably benign	0.34
R4733:Adam1a	UTSW	5	121,657,497 (GRCm39)	missense	probably benign	0.34
R4835:Adam1a	UTSW	5	121,657,752 (GRCm39)	missense	probably damaging	1.00
R5199:Adam1a	UTSW	5	121,659,215 (GRCm39)	missense	probably benign	0.23
R6026:Adam1a	UTSW	5	121,657,425 (GRCm39)	missense	probably damaging	1.00
R6936:Adam1a	UTSW	5	121,657,425 (GRCm39)	missense	probably damaging	1.00
R7016:Adam1a	UTSW	5	121,659,101 (GRCm39)	missense	probably benign	0.01
R7124:Adam1a	UTSW	5	121,657,397 (GRCm39)	missense	probably benign	0.15
R7294:Adam1a	UTSW	5	121,658,068 (GRCm39)	nonsense	probably null
R7501:Adam1a	UTSW	5	121,657,011 (GRCm39)	missense	possibly damaging	0.85
R7641:Adam1a	UTSW	5	121,657,370 (GRCm39)	missense	probably benign	0.00
R8548:Adam1a	UTSW	5	121,658,165 (GRCm39)	missense	probably damaging	1.00
R9151:Adam1a	UTSW	5	121,657,411 (GRCm39)	missense	probably damaging	0.97
R9400:Adam1a	UTSW	5	121,657,893 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ACGAAGACTCTGATGAACTCGG -3'
(R):5'- CCAAACAAAGTCTGCATGGAG -3'

Sequencing Primer
(F):5'- GAACTCGGTGGAGATACTACTTC -3'
(R):5'- AGTCTGCATGGAGTATATCTGCAC -3'

Posted On

2021-08-02