Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01782:Adam34l'

153939

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam34l

Ensembl Gene

ENSMUSG00000050190

Gene Name

a disintegrin and metallopeptidase domain 34 like

Synonyms

Gm5346

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL01782

Quality Score

Status

Chromosome

Chromosomal Location

44077988-44080313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44079772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 151 (T151S)

Ref Sequence

ENSEMBL: ENSMUSP00000058858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056023]

AlphaFold

Q7M766

Predicted Effect

probably benign
Transcript: ENSMUST00000056023
AA Change: T151S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: T151S

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	159	1.3e-18	PFAM
Pfam:Reprolysin_5	205	384	1.1e-15	PFAM
Pfam:Reprolysin_4	205	393	6.2e-9	PFAM
Pfam:Reprolysin	207	397	1.7e-46	PFAM
Pfam:Reprolysin_2	223	389	5.7e-14	PFAM
Pfam:Reprolysin_3	231	352	2.6e-13	PFAM
DISIN	416	491	2.48e-38	SMART
ACR	492	628	3.4e-65	SMART
EGF	634	664	2.69e1	SMART
transmembrane domain	685	707	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	C	9: 63,523,995 (GRCm39)	V34A	probably benign	Het
Acacb	G	T	5: 114,338,581 (GRCm39)	G764W	probably damaging	Het
Ankib1	A	G	5: 3,777,607 (GRCm39)	C428R	probably damaging	Het
Card11	A	G	5: 140,913,481 (GRCm39)	M1T	probably null	Het
Ccdc62	T	A	5: 124,092,639 (GRCm39)	N541K	possibly damaging	Het
Cep290	C	T	10: 100,380,987 (GRCm39)	Q1742*	probably null	Het
Cyp2c23	T	C	19: 44,017,554 (GRCm39)	T25A	possibly damaging	Het
Dtx2	C	A	5: 136,038,981 (GRCm39)	Y13*	probably null	Het
Dync1h1	T	C	12: 110,581,374 (GRCm39)	I273T	probably damaging	Het
Etfb	A	G	7: 43,103,966 (GRCm39)	T134A	probably damaging	Het
Fig4	A	C	10: 41,146,396 (GRCm39)	L182R	probably benign	Het
Gm10220	A	T	5: 26,322,021 (GRCm39)	L217Q	probably damaging	Het
Gm4871	T	G	5: 144,967,170 (GRCm39)		probably benign	Het
Gm5464	T	C	14: 67,106,837 (GRCm39)		probably benign	Het
Lurap1	A	G	4: 116,001,700 (GRCm39)		probably benign	Het
Mmp17	T	A	5: 129,679,205 (GRCm39)	V368E	probably damaging	Het
Mrpl22	T	A	11: 58,062,670 (GRCm39)		probably null	Het
Nisch	G	A	14: 30,898,596 (GRCm39)		probably benign	Het
Odf4	A	T	11: 68,817,459 (GRCm39)	H76Q	probably damaging	Het
Or2t48	T	A	11: 58,419,985 (GRCm39)	M276L	probably benign	Het
Or6c207	C	T	10: 129,104,908 (GRCm39)	V95I	probably benign	Het
Orc1	T	C	4: 108,463,465 (GRCm39)	S661P	possibly damaging	Het
Otud4	T	G	8: 80,399,640 (GRCm39)	F784V	possibly damaging	Het
Prkch	A	G	12: 73,806,436 (GRCm39)	D561G	probably damaging	Het
Pttg1ip	T	C	10: 77,417,763 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,314,131 (GRCm39)	K1617R	probably damaging	Het
Rarb	T	G	14: 16,434,180 (GRCm38)	S333R	probably damaging	Het
Rps6ka2	A	G	17: 7,503,523 (GRCm39)	K99E	probably benign	Het
Sel1l2	A	T	2: 140,085,855 (GRCm39)	W542R	probably damaging	Het
Sema3g	G	T	14: 30,949,748 (GRCm39)	R643L	probably damaging	Het
Sltm	T	A	9: 70,480,923 (GRCm39)	D258E	probably damaging	Het
Stx18	G	A	5: 38,263,955 (GRCm39)	V80I	possibly damaging	Het
Taar2	A	T	10: 23,817,042 (GRCm39)	N194I	probably damaging	Het
Ube2r2	T	C	4: 41,174,129 (GRCm39)		probably null	Het
Unk	C	A	11: 115,949,205 (GRCm39)	N645K	probably benign	Het
Vmn1r73	A	G	7: 11,490,665 (GRCm39)	K161R	probably benign	Het
Vps13a	T	C	19: 16,731,701 (GRCm39)	D137G	probably damaging	Het
Xrra1	A	G	7: 99,524,401 (GRCm39)	T104A	possibly damaging	Het
Zfp410	T	A	12: 84,374,048 (GRCm39)		probably benign	Het
Zfp764l1	T	C	7: 126,992,476 (GRCm39)	T45A	probably benign	Het

Other mutations in Adam34l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Adam34l	APN	8	44,078,418 (GRCm39)	missense	probably benign	0.12
IGL00391:Adam34l	APN	8	44,078,666 (GRCm39)	missense	probably damaging	1.00
IGL00422:Adam34l	APN	8	44,079,388 (GRCm39)	missense	probably damaging	1.00
IGL00664:Adam34l	APN	8	44,079,006 (GRCm39)	missense	probably benign
IGL01095:Adam34l	APN	8	44,079,133 (GRCm39)	missense	probably benign	0.22
IGL01113:Adam34l	APN	8	44,079,189 (GRCm39)	missense	probably damaging	1.00
IGL01444:Adam34l	APN	8	44,079,470 (GRCm39)	missense	probably benign	0.06
IGL01921:Adam34l	APN	8	44,078,548 (GRCm39)	missense	probably damaging	0.96
IGL01964:Adam34l	APN	8	44,079,798 (GRCm39)	missense	probably benign	0.00
IGL02139:Adam34l	APN	8	44,078,615 (GRCm39)	missense	probably benign	0.01
IGL02555:Adam34l	APN	8	44,078,305 (GRCm39)	missense	probably damaging	1.00
IGL02951:Adam34l	APN	8	44,080,125 (GRCm39)	missense	possibly damaging	0.62
R0056:Adam34l	UTSW	8	44,078,540 (GRCm39)	nonsense	probably null
R0218:Adam34l	UTSW	8	44,079,477 (GRCm39)	missense	probably benign	0.00
R0530:Adam34l	UTSW	8	44,079,568 (GRCm39)	missense	probably benign	0.00
R0925:Adam34l	UTSW	8	44,079,340 (GRCm39)	missense	probably benign	0.11
R0927:Adam34l	UTSW	8	44,078,160 (GRCm39)	missense	probably benign	0.00
R0975:Adam34l	UTSW	8	44,078,155 (GRCm39)	missense	probably benign
R1300:Adam34l	UTSW	8	44,079,881 (GRCm39)	nonsense	probably null
R1728:Adam34l	UTSW	8	44,078,620 (GRCm39)	missense	probably damaging	1.00
R1729:Adam34l	UTSW	8	44,078,620 (GRCm39)	missense	probably damaging	1.00
R1801:Adam34l	UTSW	8	44,078,954 (GRCm39)	nonsense	probably null
R1869:Adam34l	UTSW	8	44,078,132 (GRCm39)	nonsense	probably null
R1870:Adam34l	UTSW	8	44,078,132 (GRCm39)	nonsense	probably null
R1871:Adam34l	UTSW	8	44,078,132 (GRCm39)	nonsense	probably null
R1992:Adam34l	UTSW	8	44,080,176 (GRCm39)	missense	probably benign	0.44
R2008:Adam34l	UTSW	8	44,080,074 (GRCm39)	missense	probably benign	0.00
R2013:Adam34l	UTSW	8	44,079,442 (GRCm39)	missense	possibly damaging	0.81
R2022:Adam34l	UTSW	8	44,078,954 (GRCm39)	nonsense	probably null
R2175:Adam34l	UTSW	8	44,078,475 (GRCm39)	missense	probably benign
R2875:Adam34l	UTSW	8	44,080,177 (GRCm39)	nonsense	probably null
R3406:Adam34l	UTSW	8	44,079,089 (GRCm39)	nonsense	probably null
R3845:Adam34l	UTSW	8	44,079,669 (GRCm39)	missense	probably benign	0.00
R4033:Adam34l	UTSW	8	44,079,710 (GRCm39)	missense	probably benign	0.28
R4072:Adam34l	UTSW	8	44,079,387 (GRCm39)	missense	probably damaging	1.00
R4074:Adam34l	UTSW	8	44,079,387 (GRCm39)	missense	probably damaging	1.00
R4075:Adam34l	UTSW	8	44,079,387 (GRCm39)	missense	probably damaging	1.00
R4076:Adam34l	UTSW	8	44,079,387 (GRCm39)	missense	probably damaging	1.00
R4153:Adam34l	UTSW	8	44,079,564 (GRCm39)	missense	probably benign	0.04
R4330:Adam34l	UTSW	8	44,079,287 (GRCm39)	missense	probably benign
R4612:Adam34l	UTSW	8	44,079,587 (GRCm39)	missense	probably benign	0.09
R4662:Adam34l	UTSW	8	44,080,116 (GRCm39)	missense	probably benign	0.26
R5032:Adam34l	UTSW	8	44,079,508 (GRCm39)	missense	probably damaging	1.00
R5077:Adam34l	UTSW	8	44,080,200 (GRCm39)	missense	possibly damaging	0.79
R5504:Adam34l	UTSW	8	44,078,319 (GRCm39)	missense	probably damaging	1.00
R5697:Adam34l	UTSW	8	44,079,616 (GRCm39)	missense	probably damaging	1.00
R6232:Adam34l	UTSW	8	44,078,949 (GRCm39)	missense	probably benign	0.00
R6233:Adam34l	UTSW	8	44,078,949 (GRCm39)	missense	probably benign	0.00
R6234:Adam34l	UTSW	8	44,078,949 (GRCm39)	missense	probably benign	0.00
R6235:Adam34l	UTSW	8	44,078,949 (GRCm39)	missense	probably benign	0.00
R6241:Adam34l	UTSW	8	44,079,133 (GRCm39)	missense	probably benign	0.22
R6392:Adam34l	UTSW	8	44,079,038 (GRCm39)	missense	probably benign	0.09
R6439:Adam34l	UTSW	8	44,078,988 (GRCm39)	missense	probably damaging	1.00
R6454:Adam34l	UTSW	8	44,079,845 (GRCm39)	missense	probably damaging	0.96
R6455:Adam34l	UTSW	8	44,079,189 (GRCm39)	missense	probably damaging	1.00
R6767:Adam34l	UTSW	8	44,079,951 (GRCm39)	missense	probably damaging	1.00
R6774:Adam34l	UTSW	8	44,078,220 (GRCm39)	missense	probably benign	0.00
R6877:Adam34l	UTSW	8	44,078,274 (GRCm39)	missense	probably benign	0.02
R6911:Adam34l	UTSW	8	44,078,146 (GRCm39)	missense	probably benign	0.02
R7211:Adam34l	UTSW	8	44,078,914 (GRCm39)	missense	probably damaging	1.00
R7597:Adam34l	UTSW	8	44,078,281 (GRCm39)	missense	probably damaging	1.00
R7602:Adam34l	UTSW	8	44,079,703 (GRCm39)	missense	probably damaging	0.99
R7797:Adam34l	UTSW	8	44,079,411 (GRCm39)	missense	probably benign	0.04
R7981:Adam34l	UTSW	8	44,078,850 (GRCm39)	missense	probably damaging	1.00
R8154:Adam34l	UTSW	8	44,078,424 (GRCm39)	missense	probably damaging	0.97
R8215:Adam34l	UTSW	8	44,079,538 (GRCm39)	missense	probably benign	0.05
R9180:Adam34l	UTSW	8	44,079,970 (GRCm39)	nonsense	probably null
R9307:Adam34l	UTSW	8	44,079,304 (GRCm39)	missense	probably benign	0.00
R9733:Adam34l	UTSW	8	44,079,186 (GRCm39)	missense	possibly damaging	0.94
RF001:Adam34l	UTSW	8	44,079,942 (GRCm39)	missense	possibly damaging	0.79
Z1177:Adam34l	UTSW	8	44,079,583 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-02-04