Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02248:Gm14443'

286274

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm14443

Ensembl Gene

ENSMUSG00000078902

Gene Name

predicted gene 14443

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02248

Quality Score

Status

Chromosome

Chromosomal Location

175008048-175017664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 175012107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 113 (I113K)

Ref Sequence

ENSEMBL: ENSMUSP00000104682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109054]

AlphaFold

A2ARX0

Predicted Effect

probably benign
Transcript: ENSMUST00000109054
AA Change: I113K

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

SMART Domains

Protein: ENSMUSP00000104682
Gene: ENSMUSG00000078902
AA Change: I113K

Domain	Start	End	E-Value	Type
KRAB	4	66	1.9e-15	SMART
ZnF_C2H2	78	97	1.38e2	SMART
ZnF_C2H2	103	123	3.05e1	SMART
ZnF_C2H2	131	153	1.25e-1	SMART
ZnF_C2H2	159	179	7.89e0	SMART
ZnF_C2H2	187	209	2.27e-4	SMART
ZnF_C2H2	215	237	4.54e-4	SMART
ZnF_C2H2	243	265	5.99e-4	SMART
ZnF_C2H2	271	293	4.54e-4	SMART
ZnF_C2H2	299	321	5.21e-4	SMART
ZnF_C2H2	327	349	3.95e-4	SMART
ZnF_C2H2	355	377	4.24e-4	SMART
ZnF_C2H2	383	405	5.21e-4	SMART
ZnF_C2H2	411	433	5.21e-4	SMART
ZnF_C2H2	439	461	3.95e-4	SMART
ZnF_C2H2	467	489	4.24e-4	SMART
ZnF_C2H2	495	517	5.21e-4	SMART
ZnF_C2H2	523	545	3.95e-4	SMART
ZnF_C2H2	551	573	5.21e-4	SMART
ZnF_C2H2	579	601	2.27e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127251

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajap1	A	T	4: 153,516,568 (GRCm39)	S258T	possibly damaging	Het
Ap1g1	A	G	8: 110,590,065 (GRCm39)		probably benign	Het
B4galnt4	T	C	7: 140,647,721 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,023,439 (GRCm39)		probably null	Het
Btnl9	T	C	11: 49,071,625 (GRCm39)	D66G	probably benign	Het
Casp1	T	A	9: 5,299,452 (GRCm39)	H60Q	probably benign	Het
Clec4n	T	G	6: 123,207,527 (GRCm39)	S30R	probably damaging	Het
Col22a1	A	G	15: 71,671,297 (GRCm39)	L1021P	unknown	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Fbxw7	A	G	3: 84,810,940 (GRCm39)	N22D	possibly damaging	Het
Frrs1l	T	A	4: 56,968,272 (GRCm39)	N167Y	probably damaging	Het
Fsip2	T	A	2: 82,813,116 (GRCm39)	I3145K	possibly damaging	Het
Gcc1	G	T	6: 28,418,513 (GRCm39)	R607S	probably damaging	Het
Ica1	T	C	6: 8,758,387 (GRCm39)		probably benign	Het
Igkv4-69	T	A	6: 69,261,305 (GRCm39)		probably benign	Het
Igkv9-120	G	T	6: 68,027,221 (GRCm39)	C45F	probably damaging	Het
Lrp2	T	C	2: 69,313,152 (GRCm39)	Y2483C	probably damaging	Het
Lrpprc	A	G	17: 85,078,895 (GRCm39)	L273S	probably damaging	Het
Myh9	A	T	15: 77,670,814 (GRCm39)	L476Q	probably damaging	Het
Nab2	T	C	10: 127,499,109 (GRCm39)	I390V	probably benign	Het
Notch4	A	T	17: 34,806,172 (GRCm39)	D1756V	probably damaging	Het
Nup54	T	C	5: 92,576,188 (GRCm39)		probably null	Het
Or14c41	T	A	7: 86,235,312 (GRCm39)	Y276*	probably null	Het
Or8k38	A	T	2: 86,488,061 (GRCm39)	V247E	probably damaging	Het
Reln	T	C	5: 22,115,990 (GRCm39)	Y3006C	probably damaging	Het
Rpe65	T	A	3: 159,330,342 (GRCm39)	L503Q	probably damaging	Het
Serinc5	A	G	13: 92,842,648 (GRCm39)	D366G	probably damaging	Het
Slain1	A	G	14: 103,923,213 (GRCm39)	D102G	probably damaging	Het
Smo	A	T	6: 29,757,291 (GRCm39)	I469F	possibly damaging	Het
Tomm70a	T	A	16: 56,958,465 (GRCm39)	S273T	probably benign	Het
Trak1	G	T	9: 121,275,860 (GRCm39)	V281L	probably damaging	Het
Trib2	T	C	12: 15,843,967 (GRCm39)	N225S	possibly damaging	Het
Vmn2r23	A	T	6: 123,718,703 (GRCm39)	K685N	probably damaging	Het
Zcchc4	T	A	5: 52,953,418 (GRCm39)	H142Q	probably damaging	Het
Zfp521	T	C	18: 13,977,303 (GRCm39)	I1037V	possibly damaging	Het

Other mutations in Gm14443

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0081:Gm14443	UTSW	2	175,011,729 (GRCm39)	missense	probably damaging	1.00
R1312:Gm14443	UTSW	2	175,013,383 (GRCm39)	splice site	probably benign
R1958:Gm14443	UTSW	2	175,011,497 (GRCm39)	missense	probably benign	0.31
R4061:Gm14443	UTSW	2	175,011,402 (GRCm39)	missense	probably benign	0.01
R4089:Gm14443	UTSW	2	175,013,685 (GRCm39)	missense	probably damaging	1.00
R5306:Gm14443	UTSW	2	175,011,372 (GRCm39)	missense	possibly damaging	0.63
R5405:Gm14443	UTSW	2	175,013,644 (GRCm39)	missense	possibly damaging	0.55
R5417:Gm14443	UTSW	2	175,011,796 (GRCm39)	missense	probably damaging	1.00
R6422:Gm14443	UTSW	2	175,012,174 (GRCm39)	nonsense	probably null
R7410:Gm14443	UTSW	2	175,011,069 (GRCm39)	missense	possibly damaging	0.85
R7880:Gm14443	UTSW	2	175,011,163 (GRCm39)	missense	probably benign	0.08
R7962:Gm14443	UTSW	2	175,012,035 (GRCm39)	missense	probably benign	0.01
R8081:Gm14443	UTSW	2	175,012,238 (GRCm39)	nonsense	probably null
R8174:Gm14443	UTSW	2	175,011,468 (GRCm39)	missense	probably damaging	1.00
R8315:Gm14443	UTSW	2	175,013,640 (GRCm39)	critical splice donor site	probably null
R8725:Gm14443	UTSW	2	175,010,693 (GRCm39)	nonsense	probably null
R8804:Gm14443	UTSW	2	175,011,652 (GRCm39)	missense	probably damaging	0.98
R9109:Gm14443	UTSW	2	175,011,869 (GRCm39)	nonsense	probably null
R9298:Gm14443	UTSW	2	175,011,869 (GRCm39)	nonsense	probably null
R9332:Gm14443	UTSW	2	175,017,610 (GRCm39)	start gained	probably benign
R9624:Gm14443	UTSW	2	175,012,129 (GRCm39)	missense	possibly damaging	0.92
R9766:Gm14443	UTSW	2	175,012,248 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16