Mutagenetix > Incidental Mutation

Incidental Mutation 'R7393:Adam4'

573615

Institutional Source

Beutler Lab

Gene Symbol

Adam4

Ensembl Gene

ENSMUSG00000072972

Gene Name

a disintegrin and metallopeptidase domain 4

Synonyms

tMDCV

MMRRC Submission

045475-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81466217-81468720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81466434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 729 (S729L)

Ref Sequence

ENSEMBL: ENSMUSP00000082427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085319] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]

AlphaFold

Q8CGQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000085319
AA Change: S729L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000082427
Gene: ENSMUSG00000072972
AA Change: S729L

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	46	163	9e-19	PFAM
Pfam:Reprolysin	213	406	1.3e-16	PFAM
DISIN	429	504	4.89e-37	SMART
ACR	505	648	2.28e-57	SMART
transmembrane domain	718	740	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Abi2	T	C	1: 60,473,541 (GRCm39)	M86T	possibly damaging	Het
Adam26a	T	C	8: 44,022,725 (GRCm39)	N255S	probably benign	Het
Adcy1	G	T	11: 7,087,381 (GRCm39)	W418C	probably damaging	Het
Add2	T	A	6: 86,075,629 (GRCm39)	Y259*	probably null	Het
Agl	A	T	3: 116,584,805 (GRCm39)	C172S	probably benign	Het
Ankfy1	A	G	11: 72,629,134 (GRCm39)	T319A	possibly damaging	Het
Armc8	A	T	9: 99,366,052 (GRCm39)	C621S	possibly damaging	Het
Atp5mj	A	G	12: 111,929,711 (GRCm39)	V26A	probably benign	Het
Bbc3	A	G	7: 16,047,714 (GRCm39)	D146G	probably benign	Het
Btnl10	T	C	11: 58,814,532 (GRCm39)	L404P	probably damaging	Het
Cbl	A	G	9: 44,065,485 (GRCm39)		probably null	Het
Ccdc170	T	A	10: 4,464,314 (GRCm39)		probably null	Het
Ccdc91	T	A	6: 147,435,527 (GRCm39)	V37E	possibly damaging	Het
Ces1e	G	T	8: 93,937,045 (GRCm39)	T343K	probably benign	Het
Chfr	T	A	5: 110,300,224 (GRCm39)	F323I	probably damaging	Het
Clcnkb	T	A	4: 141,136,756 (GRCm39)	M370L	probably benign	Het
Col11a1	A	G	3: 113,890,755 (GRCm39)	D364G	unknown	Het
Ctbp2	A	G	7: 132,590,021 (GRCm39)	I381T	probably benign	Het
Cyp4a29	A	C	4: 115,099,393 (GRCm39)	Y38S	probably damaging	Het
Ddx1	T	C	12: 13,280,354 (GRCm39)	D382G	probably benign	Het
Dhx57	T	A	17: 80,563,000 (GRCm39)	N876Y	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam234a	T	C	17: 26,435,598 (GRCm39)	D262G	probably benign	Het
Fnbp4	C	A	2: 90,609,660 (GRCm39)	Q1035K	probably damaging	Het
Gbp11	T	A	5: 105,475,443 (GRCm39)	N302Y	possibly damaging	Het
Gm11554	T	A	11: 99,694,698 (GRCm39)	T172S	unknown	Het
Hamp2	A	T	7: 30,622,030 (GRCm39)	M53K	possibly damaging	Het
Kcnj1	A	G	9: 32,308,314 (GRCm39)	D246G	probably damaging	Het
Kctd20	T	C	17: 29,182,312 (GRCm39)	F209L	probably damaging	Het
Klra2	T	C	6: 131,207,165 (GRCm39)	Y148C	probably damaging	Het
Krtap15-1	T	C	16: 88,625,985 (GRCm39)		probably null	Het
Mrps23	T	C	11: 88,095,284 (GRCm39)	L6P	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo7a	G	A	7: 97,712,906 (GRCm39)	R1690C	possibly damaging	Het
Nbas	T	C	12: 13,443,493 (GRCm39)	S1183P	probably damaging	Het
Ndufaf4	T	A	4: 24,903,177 (GRCm39)	M122K	probably benign	Het
Nop2	C	A	6: 125,110,509 (GRCm39)	S45*	probably null	Het
Nop56	T	A	2: 130,116,558 (GRCm39)	L3Q	probably benign	Het
Nrp2	T	C	1: 62,784,583 (GRCm39)	I244T	probably damaging	Het
Or4d10c	T	A	19: 12,065,992 (GRCm39)	T55S	probably benign	Het
Or51v14	A	G	7: 103,261,198 (GRCm39)	S121P	possibly damaging	Het
Otof	T	C	5: 30,527,614 (GRCm39)	D1941G	probably benign	Het
Pcyox1l	T	C	18: 61,830,712 (GRCm39)	K387E	probably benign	Het
Plcg2	A	G	8: 118,306,564 (GRCm39)	Y306C	possibly damaging	Het
Ppp1r13b	G	A	12: 111,805,188 (GRCm39)	P333S	probably damaging	Het
Rcc2	A	G	4: 140,444,341 (GRCm39)	D344G	probably damaging	Het
Reln	A	T	5: 22,181,349 (GRCm39)	N1810K	probably damaging	Het
Rfesd	G	T	13: 76,151,149 (GRCm39)	A90E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scg2	T	C	1: 79,412,948 (GRCm39)	K552E	probably damaging	Het
Sdccag8	A	G	1: 176,667,872 (GRCm39)	I190V	probably benign	Het
Sele	C	A	1: 163,881,492 (GRCm39)	T533K	probably benign	Het
Sh3bp4	T	A	1: 89,072,170 (GRCm39)	H339Q	possibly damaging	Het
Slc6a19	A	G	13: 73,841,093 (GRCm39)	S106P	probably benign	Het
Spidr	C	T	16: 15,964,695 (GRCm39)		probably benign	Het
Stk36	A	T	1: 74,650,352 (GRCm39)	K295*	probably null	Het
Synj1	A	T	16: 90,748,887 (GRCm39)	D1056E	probably damaging	Het
Tnks1bp1	T	C	2: 84,893,210 (GRCm39)	S1046P	probably benign	Het
Ttc27	T	G	17: 75,077,259 (GRCm39)	F385V	possibly damaging	Het
Ttn	C	A	2: 76,774,689 (GRCm39)	G2164W	unknown	Het
Ubap1	T	A	4: 41,379,764 (GRCm39)	L326*	probably null	Het
Ubr4	A	G	4: 139,154,096 (GRCm39)	N812S	probably damaging	Het
Vmn1r160	A	G	7: 22,570,778 (GRCm39)	T44A	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,574 (GRCm39)	S139N	possibly damaging	Het
Vmn2r116	A	G	17: 23,605,099 (GRCm39)	I137M	probably benign	Het
Vmn2r67	A	T	7: 84,805,086 (GRCm39)	W9R	probably null	Het
Zfp101	T	C	17: 33,605,674 (GRCm39)	N45D	possibly damaging	Het

Other mutations in Adam4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Adam4	APN	12	81,467,423 (GRCm39)	missense	probably damaging	0.96
IGL01133:Adam4	APN	12	81,468,220 (GRCm39)	missense	possibly damaging	0.53
IGL01636:Adam4	APN	12	81,466,723 (GRCm39)	missense	possibly damaging	0.81
IGL02133:Adam4	APN	12	81,466,803 (GRCm39)	missense	probably benign	0.37
IGL02137:Adam4	APN	12	81,467,877 (GRCm39)	missense	possibly damaging	0.91
IGL02425:Adam4	APN	12	81,468,102 (GRCm39)	missense	probably benign	0.07
IGL02686:Adam4	APN	12	81,468,448 (GRCm39)	missense	possibly damaging	0.88
R0554:Adam4	UTSW	12	81,468,198 (GRCm39)	missense	probably damaging	1.00
R0684:Adam4	UTSW	12	81,466,428 (GRCm39)	missense	probably damaging	1.00
R1519:Adam4	UTSW	12	81,467,651 (GRCm39)	missense	possibly damaging	0.67
R1636:Adam4	UTSW	12	81,466,464 (GRCm39)	missense	probably damaging	0.98
R1795:Adam4	UTSW	12	81,468,068 (GRCm39)	missense	probably benign	0.03
R1835:Adam4	UTSW	12	81,466,333 (GRCm39)	missense	probably benign	0.00
R2158:Adam4	UTSW	12	81,468,537 (GRCm39)	missense	probably damaging	1.00
R2393:Adam4	UTSW	12	81,467,485 (GRCm39)	missense	probably benign	0.02
R2923:Adam4	UTSW	12	81,467,518 (GRCm39)	missense	probably damaging	1.00
R3411:Adam4	UTSW	12	81,466,596 (GRCm39)	missense	possibly damaging	0.64
R4159:Adam4	UTSW	12	81,466,806 (GRCm39)	missense	probably damaging	0.99
R4509:Adam4	UTSW	12	81,468,521 (GRCm39)	nonsense	probably null
R4673:Adam4	UTSW	12	81,468,535 (GRCm39)	missense	possibly damaging	0.56
R4794:Adam4	UTSW	12	81,468,198 (GRCm39)	missense	probably damaging	0.99
R5564:Adam4	UTSW	12	81,466,348 (GRCm39)	missense	probably benign	0.00
R5774:Adam4	UTSW	12	81,467,460 (GRCm39)	missense	probably damaging	1.00
R6054:Adam4	UTSW	12	81,466,828 (GRCm39)	missense	probably damaging	0.99
R6722:Adam4	UTSW	12	81,468,228 (GRCm39)	missense	probably damaging	1.00
R6857:Adam4	UTSW	12	81,466,723 (GRCm39)	missense	possibly damaging	0.81
R7316:Adam4	UTSW	12	81,466,498 (GRCm39)	missense	probably benign	0.08
R7649:Adam4	UTSW	12	81,467,151 (GRCm39)	missense	probably damaging	1.00
R8245:Adam4	UTSW	12	81,466,657 (GRCm39)	missense	probably damaging	1.00
R8293:Adam4	UTSW	12	81,467,185 (GRCm39)	nonsense	probably null
R8729:Adam4	UTSW	12	81,468,176 (GRCm39)	nonsense	probably null
R8954:Adam4	UTSW	12	81,467,146 (GRCm39)	missense	possibly damaging	0.90
R9170:Adam4	UTSW	12	81,466,516 (GRCm39)	missense	probably benign	0.00
R9360:Adam4	UTSW	12	81,468,261 (GRCm39)	missense	probably damaging	1.00
R9433:Adam4	UTSW	12	81,466,723 (GRCm39)	missense	possibly damaging	0.81
R9452:Adam4	UTSW	12	81,467,071 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTATCAATGGTTACACATCATCGAC -3'
(R):5'- TTGCAACATTAGTTCGTGTAACTTCAG -3'

Sequencing Primer
(F):5'- CACATCATCGACAATTTCTTGTGG -3'
(R):5'- CTTCAGAGGGGTGTGCAAC -3'

Posted On

2019-09-13