Mutagenetix > Incidental Mutation

Incidental Mutation 'R7124:Adam1a'

552195

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121518576-121545482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121519334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 632 (T632K)

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: T632K

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: T632K

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (72/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	C	3: 124,414,393	S212R	probably benign	Het
4930562C15Rik	T	C	16: 4,864,332	S170P	probably benign	Het
9330182O14Rik	G	A	15: 40,144,907	C59Y	unknown	Het
AA986860	A	G	1: 130,742,887	E282G	possibly damaging	Het
Aspg	G	T	12: 112,122,983	A402S	probably damaging	Het
Capn7	C	T	14: 31,336,685		probably benign	Het
Card9	C	T	2: 26,356,884		probably null	Het
Cdh13	T	C	8: 118,968,173	V254A	probably damaging	Het
Colec10	T	C	15: 54,462,371	V199A	probably damaging	Het
Copb2	T	C	9: 98,577,053	S283P	probably damaging	Het
Csmd1	G	T	8: 15,903,202	S3426R	probably damaging	Het
Cyp4f14	A	G	17: 32,914,588	V98A	probably benign	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Dysf	A	G	6: 84,190,901		probably null	Het
Eif4ebp1	T	C	8: 27,273,419	V80A	probably damaging	Het
Eloa	T	A	4: 136,009,141	I565F	probably damaging	Het
Espn	G	T	4: 152,131,264	H513N	probably benign	Het
Fam83c	C	T	2: 155,829,571	S648N	probably benign	Het
Fdxr	C	T	11: 115,269,577	V351M	probably benign	Het
Fras1	A	T	5: 96,714,401	D2213V	probably damaging	Het
Gbp4	T	A	5: 105,119,959	I474F	possibly damaging	Het
Gm11639	T	C	11: 104,738,274	F926S	probably benign	Het
Golgb1	T	C	16: 36,913,673	V1135A	probably benign	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Hipk2	A	T	6: 38,818,478	Y285*	probably null	Het
Ifi27l2b	T	C	12: 103,451,320	I203V	probably damaging	Het
Itga10	T	A	3: 96,651,765	M390K	probably damaging	Het
Itgb8	G	T	12: 119,202,424	S124*	probably null	Het
Klhdc10	T	A	6: 30,441,827	F173I	probably damaging	Het
Kng2	T	G	16: 23,012,055	N168T	probably damaging	Het
Krtap24-1	T	C	16: 88,611,546	T231A	probably damaging	Het
Lbx2	A	T	6: 83,088,064	D194V	probably damaging	Het
Lrrc39	C	A	3: 116,565,913	Q36K	probably benign	Het
Madd	T	C	2: 91,162,048	E1093G	possibly damaging	Het
Mfap3l	A	G	8: 60,671,269	T182A	probably damaging	Het
Myo9b	T	A	8: 71,333,701	Y670*	probably null	Het
Nbea	A	G	3: 55,992,444	L1428P	probably damaging	Het
Nkx2-3	T	C	19: 43,614,806	Y284H	possibly damaging	Het
Nphp4	A	G	4: 152,555,684	D1009G	probably benign	Het
Npy2r	G	A	3: 82,541,183	A95V	probably damaging	Het
Nuggc	A	G	14: 65,608,802	E70G	probably damaging	Het
Olfr1020	T	C	2: 85,849,910	S153P	probably benign	Het
Olfr1028	T	A	2: 85,951,473	S137T	possibly damaging	Het
Palld	A	T	8: 61,516,645	V1215D	unknown	Het
Pard6g	T	C	18: 80,117,125	I151T	possibly damaging	Het
Parp12	T	C	6: 39,111,736	I189V	probably benign	Het
Parp4	A	G	14: 56,602,799	I554V	probably benign	Het
Pcnx2	G	A	8: 125,753,617	P1984S	probably damaging	Het
Piwil4	T	C	9: 14,736,900	M128V	probably benign	Het
Polr2a	C	A	11: 69,737,462	E1302*	probably null	Het
Psg17	C	A	7: 18,814,496	G450V	probably damaging	Het
Psg17	C	G	7: 18,814,497	G450R	probably damaging	Het
Rag1	T	C	2: 101,643,783	E338G	probably damaging	Het
Rev3l	A	T	10: 39,822,167	K887*	probably null	Het
Rragd	T	C	4: 32,996,027	F124S	possibly damaging	Het
Scube1	A	T	15: 83,629,511		probably null	Het
Sfpq	A	T	4: 127,025,932	D490V	possibly damaging	Het
Smc1b	G	T	15: 85,071,597	Q1034K	probably damaging	Het
Smg7	T	C	1: 152,878,080	N5S	probably benign	Het
Spata31d1a	A	C	13: 59,702,487	L609R	probably damaging	Het
Ssh2	A	G	11: 77,454,338	K1050E	probably benign	Het
Stab1	G	A	14: 31,160,867	T393I	possibly damaging	Het
Sult2a4	C	T	7: 13,988,395	W49*	probably null	Het
Thrap3	A	T	4: 126,180,438	S172T	unknown	Het
Tmem130	A	G	5: 144,750,911	V205A	probably damaging	Het
Ube2d2b	A	G	5: 107,830,851	I123V	probably benign	Het
Unc79	G	T	12: 103,061,393	L414F	probably damaging	Het
Vmn2r30	C	T	7: 7,334,184	S151N	probably benign	Het
Vmn2r54	T	A	7: 12,622,151	T443S	probably benign	Het
Zfp229	T	A	17: 21,742,616	S51T	probably damaging	Het
Zfp617	T	C	8: 71,932,540	L238P	probably damaging	Het
Zfp707	T	A	15: 75,973,549	C87*	probably null	Het
Zfp853	T	C	5: 143,289,607	K101R	unknown	Het

Other mutations in Adam1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:Adam1a	APN	5	121519376	missense	probably benign	0.09
IGL01467:Adam1a	APN	5	121519728	missense	probably damaging	1.00
IGL02158:Adam1a	APN	5	121518971	nonsense	probably null
R1468:Adam1a	UTSW	5	121519776	splice site	probably null
R1468:Adam1a	UTSW	5	121519776	splice site	probably null
R1593:Adam1a	UTSW	5	121519643	missense	probably benign	0.02
R1848:Adam1a	UTSW	5	121519620	missense	probably damaging	1.00
R1925:Adam1a	UTSW	5	121519450	nonsense	probably null
R2176:Adam1a	UTSW	5	121519586	missense	probably benign	0.01
R2232:Adam1a	UTSW	5	121519732	missense	possibly damaging	0.93
R3692:Adam1a	UTSW	5	121519322	missense	probably damaging	1.00
R4732:Adam1a	UTSW	5	121519434	missense	probably benign	0.34
R4733:Adam1a	UTSW	5	121519434	missense	probably benign	0.34
R4835:Adam1a	UTSW	5	121519689	missense	probably damaging	1.00
R5199:Adam1a	UTSW	5	121521152	missense	probably benign	0.23
R6026:Adam1a	UTSW	5	121519362	missense	probably damaging	1.00
R6936:Adam1a	UTSW	5	121519362	missense	probably damaging	1.00
R7016:Adam1a	UTSW	5	121521038	missense	probably benign	0.01
R7294:Adam1a	UTSW	5	121520005	nonsense	probably null
R7501:Adam1a	UTSW	5	121518948	missense	possibly damaging	0.85
R7641:Adam1a	UTSW	5	121519307	missense	probably benign	0.00
R8548:Adam1a	UTSW	5	121520102	missense	probably damaging	1.00
R8917:Adam1a	UTSW	5	121519082	missense	probably benign	0.43
R9151:Adam1a	UTSW	5	121519348	missense	probably damaging	0.97
R9400:Adam1a	UTSW	5	121519830	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CATCGCAGTGACAGTGCTTG -3'
(R):5'- CCCTGAGGAATGTTACATTTCAG -3'

Sequencing Primer
(F):5'- CAGTGCTTGAAATTGTTGCACACTC -3'
(R):5'- TTGGAAACTGTGGCCATCC -3'

Posted On

2019-05-15