Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02979:Adam34'

406470

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02979

Quality Score

Status

Chromosome

Chromosomal Location

44103346-44118597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44104408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 412 (N412K)

Ref Sequence

ENSEMBL: ENSMUSP00000148332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110411] [ENSMUST00000212185]

AlphaFold

A2RSG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000110411
AA Change: N412K

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

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: N412K

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Pep_M12B_propep	40	159	5.9e-20	PFAM
Pfam:Reprolysin_5	205	377	1.6e-16	PFAM
Pfam:Reprolysin_4	205	393	3e-12	PFAM
Pfam:Reprolysin	207	397	9.4e-49	PFAM
Pfam:Reprolysin_2	224	389	1e-14	PFAM
Pfam:Reprolysin_3	231	352	2.7e-14	PFAM
DISIN	416	491	3.38e-40	SMART
ACR	492	628	9.18e-62	SMART
transmembrane domain	685	707	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000212185
AA Change: N412K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,837,929 (GRCm39)	T1646A	probably benign	Het
C8b	T	A	4: 104,631,585 (GRCm39)	S67T	probably damaging	Het
Cemip	T	A	7: 83,652,514 (GRCm39)		probably benign	Het
Chd6	T	C	2: 160,808,090 (GRCm39)	E1708G	possibly damaging	Het
Chtop	A	G	3: 90,407,402 (GRCm39)	I161T	probably benign	Het
Cplane1	T	C	15: 8,248,038 (GRCm39)	V1529A	possibly damaging	Het
Dus3l	T	C	17: 57,075,140 (GRCm39)	V388A	possibly damaging	Het
Dzank1	A	G	2: 144,330,658 (GRCm39)	F466L	probably damaging	Het
Exo1	A	G	1: 175,726,973 (GRCm39)	D428G	probably damaging	Het
Fam20c	C	T	5: 138,743,620 (GRCm39)	P219S	probably damaging	Het
Hyls1	A	T	9: 35,472,970 (GRCm39)	F149I	probably benign	Het
Kif13b	A	T	14: 65,027,146 (GRCm39)	Q1486L	probably damaging	Het
Lonp1	A	G	17: 56,928,940 (GRCm39)	V274A	probably benign	Het
Myh13	T	C	11: 67,225,788 (GRCm39)	V322A	possibly damaging	Het
Or8g34	T	C	9: 39,372,819 (GRCm39)	F28L	probably benign	Het
Pkd1l3	T	C	8: 110,388,736 (GRCm39)		probably benign	Het
Prpf31	G	A	7: 3,633,598 (GRCm39)		probably benign	Het
Rock2	C	A	12: 17,027,941 (GRCm39)	T1391K	probably benign	Het
Slc4a10	A	G	2: 62,119,091 (GRCm39)	I769V	probably null	Het
Spag9	A	G	11: 93,988,190 (GRCm39)	T416A	probably benign	Het
Tspoap1	C	T	11: 87,661,347 (GRCm39)	L600F	probably damaging	Het
Ttll5	A	G	12: 85,873,356 (GRCm39)	E11G	probably damaging	Het
Uox	A	T	3: 146,316,246 (GRCm39)		probably null	Het
Wdr72	T	C	9: 74,086,838 (GRCm39)	I602T	probably damaging	Het

Other mutations in Adam34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Adam34	APN	8	44,105,227 (GRCm39)	missense	possibly damaging	0.91
IGL01296:Adam34	APN	8	44,104,178 (GRCm39)	missense	possibly damaging	0.90
IGL01369:Adam34	APN	8	44,104,094 (GRCm39)	missense	probably benign	0.00
IGL01933:Adam34	APN	8	44,104,569 (GRCm39)	missense	probably damaging	1.00
IGL01938:Adam34	APN	8	44,104,053 (GRCm39)	missense	probably damaging	1.00
IGL02112:Adam34	APN	8	44,104,175 (GRCm39)	missense	possibly damaging	0.46
IGL02182:Adam34	APN	8	44,104,790 (GRCm39)	missense	probably benign
IGL02306:Adam34	APN	8	44,103,522 (GRCm39)	missense	probably benign	0.44
IGL02661:Adam34	APN	8	44,104,572 (GRCm39)	missense	probably damaging	1.00
IGL02888:Adam34	APN	8	44,104,610 (GRCm39)	missense	probably damaging	1.00
IGL03073:Adam34	APN	8	44,103,940 (GRCm39)	missense	probably damaging	0.99
BB010:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
BB020:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Adam34	UTSW	8	44,104,349 (GRCm39)	missense	probably damaging	1.00
R0060:Adam34	UTSW	8	44,128,920 (GRCm39)	intron	probably benign
R0317:Adam34	UTSW	8	44,105,288 (GRCm39)	missense	probably benign	0.14
R0322:Adam34	UTSW	8	44,104,958 (GRCm39)	missense	probably benign	0.00
R0427:Adam34	UTSW	8	44,105,493 (GRCm39)	missense	probably benign	0.15
R0593:Adam34	UTSW	8	44,104,724 (GRCm39)	missense	possibly damaging	0.87
R0837:Adam34	UTSW	8	44,104,537 (GRCm39)	missense	probably benign	0.00
R0927:Adam34	UTSW	8	44,104,621 (GRCm39)	missense	probably damaging	1.00
R1634:Adam34	UTSW	8	44,105,127 (GRCm39)	missense	possibly damaging	0.81
R1653:Adam34	UTSW	8	44,103,682 (GRCm39)	nonsense	probably null
R1826:Adam34	UTSW	8	44,104,379 (GRCm39)	missense	probably damaging	1.00
R1873:Adam34	UTSW	8	44,104,843 (GRCm39)	missense	probably benign	0.02
R1943:Adam34	UTSW	8	44,104,852 (GRCm39)	missense	probably damaging	1.00
R1943:Adam34	UTSW	8	44,103,864 (GRCm39)	missense	possibly damaging	0.48
R2147:Adam34	UTSW	8	44,105,538 (GRCm39)	missense	probably benign	0.01
R2150:Adam34	UTSW	8	44,105,538 (GRCm39)	missense	probably benign	0.01
R2206:Adam34	UTSW	8	44,105,274 (GRCm39)	missense	probably benign	0.02
R2207:Adam34	UTSW	8	44,105,274 (GRCm39)	missense	probably benign	0.02
R2268:Adam34	UTSW	8	44,103,647 (GRCm39)	missense	probably benign	0.00
R2349:Adam34	UTSW	8	44,105,415 (GRCm39)	missense	probably damaging	0.99
R3983:Adam34	UTSW	8	44,103,806 (GRCm39)	missense	probably benign
R4158:Adam34	UTSW	8	44,103,854 (GRCm39)	missense	probably damaging	1.00
R4179:Adam34	UTSW	8	44,104,128 (GRCm39)	missense	probably benign	0.18
R5219:Adam34	UTSW	8	44,104,461 (GRCm39)	missense	probably benign
R5398:Adam34	UTSW	8	44,104,278 (GRCm39)	missense	probably damaging	1.00
R5611:Adam34	UTSW	8	44,104,749 (GRCm39)	missense	probably benign	0.43
R5928:Adam34	UTSW	8	44,105,067 (GRCm39)	missense	probably benign	0.08
R6115:Adam34	UTSW	8	44,105,098 (GRCm39)	missense	probably benign
R6319:Adam34	UTSW	8	44,104,952 (GRCm39)	missense	probably benign	0.01
R6384:Adam34	UTSW	8	44,103,836 (GRCm39)	missense	probably benign	0.00
R6706:Adam34	UTSW	8	44,104,479 (GRCm39)	nonsense	probably null
R6992:Adam34	UTSW	8	44,105,642 (GRCm39)	start codon destroyed	probably null	1.00
R7032:Adam34	UTSW	8	44,105,303 (GRCm39)	missense	probably damaging	1.00
R7151:Adam34	UTSW	8	44,104,499 (GRCm39)	missense	probably benign	0.19
R7187:Adam34	UTSW	8	44,105,565 (GRCm39)	missense	probably benign	0.02
R7223:Adam34	UTSW	8	44,105,041 (GRCm39)	missense	probably benign	0.02
R7487:Adam34	UTSW	8	44,104,191 (GRCm39)	missense	probably damaging	1.00
R7726:Adam34	UTSW	8	44,104,208 (GRCm39)	missense	probably damaging	0.99
R7789:Adam34	UTSW	8	44,105,488 (GRCm39)	missense	probably benign	0.00
R7810:Adam34	UTSW	8	44,105,045 (GRCm39)	missense	probably benign	0.01
R7933:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
R8192:Adam34	UTSW	8	44,103,970 (GRCm39)	missense	probably damaging	1.00
R8231:Adam34	UTSW	8	44,104,659 (GRCm39)	missense	probably benign
R8238:Adam34	UTSW	8	44,103,993 (GRCm39)	missense	probably damaging	1.00
R8259:Adam34	UTSW	8	44,104,646 (GRCm39)	missense	probably benign	0.03
R8339:Adam34	UTSW	8	44,103,640 (GRCm39)	missense	probably benign	0.20
R8381:Adam34	UTSW	8	44,104,847 (GRCm39)	missense	possibly damaging	0.70
R8670:Adam34	UTSW	8	44,105,126 (GRCm39)	missense	possibly damaging	0.91
R8693:Adam34	UTSW	8	44,104,641 (GRCm39)	missense	probably benign
R8932:Adam34	UTSW	8	44,105,192 (GRCm39)	missense	probably benign	0.19
R8936:Adam34	UTSW	8	44,104,439 (GRCm39)	missense	probably benign	0.00
R8981:Adam34	UTSW	8	44,103,840 (GRCm39)	missense	probably benign	0.05
R9040:Adam34	UTSW	8	44,103,363 (GRCm39)	unclassified	probably benign
R9105:Adam34	UTSW	8	44,103,785 (GRCm39)	missense	probably damaging	1.00
R9305:Adam34	UTSW	8	44,104,416 (GRCm39)	missense	probably damaging	1.00
R9321:Adam34	UTSW	8	44,105,243 (GRCm39)	missense	probably damaging	1.00
R9641:Adam34	UTSW	8	44,104,076 (GRCm39)	missense	probably damaging	0.97
R9644:Adam34	UTSW	8	44,104,766 (GRCm39)	missense	probably damaging	0.96

Posted On

2016-08-02