Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00422:Adam34l'

6225

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 #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

44077988-44080313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44079388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 279 (F279L)

Ref Sequence

ENSEMBL: ENSMUSP00000058858 (fasta)

Gene Model

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

AlphaFold

Q7M766

Predicted Effect

probably damaging
Transcript: ENSMUST00000056023
AA Change: F279L

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

SMART Domains

Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: F279L

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,056,618 (GRCm39)	A359T	probably damaging	Het
Ajuba	A	T	14: 54,809,226 (GRCm39)	Y400*	probably null	Het
Cckar	T	A	5: 53,857,171 (GRCm39)	D342V	possibly damaging	Het
Cdc123	A	G	2: 5,803,260 (GRCm39)	V253A	probably benign	Het
Cep162	T	C	9: 87,109,220 (GRCm39)	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106 (GRCm39)	E2399K	probably damaging	Het
Cln8	G	A	8: 14,946,637 (GRCm39)	C217Y	probably benign	Het
Dchs1	A	G	7: 105,407,236 (GRCm39)	V2119A	possibly damaging	Het
Dhx33	T	C	11: 70,892,446 (GRCm39)	S108G	probably benign	Het
Dip2a	T	A	10: 76,149,070 (GRCm39)	M194L	probably benign	Het
Dnah11	T	C	12: 118,031,831 (GRCm39)	K1779R	probably damaging	Het
Fads3	T	G	19: 10,033,045 (GRCm39)	F328V	possibly damaging	Het
Flad1	A	G	3: 89,313,160 (GRCm39)		probably null	Het
Gm7535	G	T	17: 18,132,150 (GRCm39)		probably benign	Het
Gnpat	A	G	8: 125,611,752 (GRCm39)	E513G	probably damaging	Het
H2-M5	A	G	17: 37,298,732 (GRCm39)	I238T	probably damaging	Het
Hoxd12	G	A	2: 74,505,771 (GRCm39)	R114Q	probably damaging	Het
Ide	T	C	19: 37,253,931 (GRCm39)	I903V	unknown	Het
Ifi209	T	G	1: 173,466,529 (GRCm39)	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,367,894 (GRCm39)	D248G	probably damaging	Het
Mat2b	C	A	11: 40,578,565 (GRCm39)	G41C	probably damaging	Het
Mfsd4a	T	C	1: 131,968,332 (GRCm39)	I369V	probably benign	Het
Myom1	T	A	17: 71,433,093 (GRCm39)	V1480E	probably damaging	Het
Myom2	A	T	8: 15,119,490 (GRCm39)	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,496,635 (GRCm39)	V422E	probably damaging	Het
Pkn3	G	A	2: 29,971,116 (GRCm39)	A228T	probably damaging	Het
Rad17	A	T	13: 100,766,033 (GRCm39)	I365K	probably benign	Het
Rad17	A	T	13: 100,766,031 (GRCm39)	S366T	probably damaging	Het
Rpp14	G	A	14: 8,083,934 (GRCm38)	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,106,743 (GRCm39)	C15G	probably benign	Het
Spag9	T	A	11: 93,988,692 (GRCm39)	F571I	probably benign	Het
Ttc27	T	A	17: 75,087,811 (GRCm39)	C459S	probably damaging	Het
Washc2	A	G	6: 116,233,637 (GRCm39)	T888A	probably benign	Het
Zcchc7	A	T	4: 44,931,318 (GRCm39)	H490L	possibly damaging	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
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
IGL01782:Adam34l	APN	8	44,079,772 (GRCm39)	missense	probably benign	0.01
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

2012-04-20