Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00579:Gm11595'

6027

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm11595

Ensembl Gene

ENSMUSG00000078668

Gene Name

predicted gene 11595

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL00579

Quality Score

Status

Chromosome

Chromosomal Location

99662540-99663739 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99662868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 271 (T271A)

Ref Sequence

ENSEMBL: ENSMUSP00000103064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107440]

AlphaFold

B1AQA7

Predicted Effect

unknown
Transcript: ENSMUST00000107440
AA Change: T271A

SMART Domains

Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: T271A

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	47	7.5e-9	PFAM
Pfam:Keratin_B2_2	14	58	2.8e-13	PFAM
Pfam:Keratin_B2_2	29	73	1.2e-13	PFAM
Pfam:Keratin_B2_2	72	112	2.3e-12	PFAM
Pfam:Keratin_B2_2	107	152	4.6e-14	PFAM
Pfam:Keratin_B2_2	118	162	1.1e-13	PFAM
Pfam:Keratin_B2_2	143	187	3.5e-10	PFAM
Pfam:Keratin_B2_2	168	212	5.6e-13	PFAM
Pfam:Keratin_B2_2	178	222	2.4e-12	PFAM
Pfam:Keratin_B2_2	208	257	1.6e-11	PFAM
Pfam:Keratin_B2_2	223	267	4e-14	PFAM
Pfam:Keratin_B2_2	248	289	9e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	T	C	5: 24,773,794 (GRCm39)	E365G	possibly damaging	Het
Adamts12	T	C	15: 11,152,100 (GRCm39)	Y197H	probably benign	Het
Cept1	A	T	3: 106,413,119 (GRCm39)	V202E	possibly damaging	Het
Cfap53	A	T	18: 74,438,611 (GRCm39)	K263*	probably null	Het
Dennd3	T	C	15: 73,412,691 (GRCm39)	I451T	possibly damaging	Het
Dync2h1	A	C	9: 7,035,728 (GRCm39)		probably benign	Het
Egf	T	A	3: 129,491,447 (GRCm39)	H850L	probably benign	Het
Gorab	T	C	1: 163,222,256 (GRCm39)	E142G	probably damaging	Het
Gpat4	A	G	8: 23,672,791 (GRCm39)	S20P	probably damaging	Het
Gpr83	T	C	9: 14,771,897 (GRCm39)	V23A	probably benign	Het
Il13ra2	A	G	X: 146,177,386 (GRCm39)	Y146H	probably damaging	Het
Kcnj16	C	T	11: 110,916,034 (GRCm39)	T232M	probably benign	Het
Mdfic	A	T	6: 15,741,073 (GRCm39)	I61F	possibly damaging	Het
Mmp3	G	T	9: 7,445,894 (GRCm39)		probably benign	Het
Olr1	C	T	6: 129,470,486 (GRCm39)	R227K	probably benign	Het
Otof	T	A	5: 30,556,666 (GRCm39)	I257F	possibly damaging	Het
Oxsr1	T	A	9: 119,088,277 (GRCm39)	R43S	probably damaging	Het
Pacc1	T	C	1: 191,060,405 (GRCm39)	V21A	unknown	Het
Prkdc	A	G	16: 15,482,103 (GRCm39)	D382G	probably damaging	Het
Slc35b2	G	T	17: 45,875,886 (GRCm39)	V81L	probably damaging	Het
Thumpd3	G	A	6: 113,024,622 (GRCm39)	R72H	possibly damaging	Het
Tsga10	G	A	1: 37,874,534 (GRCm39)	T117I	probably damaging	Het
Vps13a	T	A	19: 16,684,726 (GRCm39)	T953S	probably benign	Het
Wdr62	A	C	7: 29,967,320 (GRCm39)	C311W	probably damaging	Het
Wdr74	A	G	19: 8,716,830 (GRCm39)	T247A	possibly damaging	Het
Zbtb26	A	T	2: 37,326,454 (GRCm39)	V194D	possibly damaging	Het
Zfp639	A	T	3: 32,574,626 (GRCm39)	E417V	probably damaging	Het

Other mutations in Gm11595

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00987:Gm11595	APN	11	99,663,365 (GRCm39)	missense	unknown
IGL01662:Gm11595	APN	11	99,663,498 (GRCm39)	missense	unknown
IGL01994:Gm11595	APN	11	99,663,027 (GRCm39)	missense	unknown
R0548:Gm11595	UTSW	11	99,662,967 (GRCm39)	missense	unknown
R1923:Gm11595	UTSW	11	99,663,365 (GRCm39)	missense	unknown
R2127:Gm11595	UTSW	11	99,663,327 (GRCm39)	missense	unknown
R2128:Gm11595	UTSW	11	99,663,327 (GRCm39)	missense	unknown
R3807:Gm11595	UTSW	11	99,663,380 (GRCm39)	missense	unknown
R4007:Gm11595	UTSW	11	99,662,861 (GRCm39)	missense	unknown
R5281:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5283:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5303:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5305:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5306:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5307:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5308:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5561:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5637:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5639:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5718:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5719:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5720:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5721:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5769:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5770:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5771:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5791:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5841:Gm11595	UTSW	11	99,663,143 (GRCm39)	missense	unknown
R6054:Gm11595	UTSW	11	99,663,474 (GRCm39)	missense	unknown
R6277:Gm11595	UTSW	11	99,663,510 (GRCm39)	missense	unknown
R6281:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6282:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6310:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6321:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6322:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6327:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6337:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6368:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6369:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6431:Gm11595	UTSW	11	99,663,600 (GRCm39)	missense	unknown
R6483:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6485:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6493:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6758:Gm11595	UTSW	11	99,663,367 (GRCm39)	nonsense	probably null
R6758:Gm11595	UTSW	11	99,663,366 (GRCm39)	missense	unknown
R7037:Gm11595	UTSW	11	99,663,474 (GRCm39)	missense	unknown
R8053:Gm11595	UTSW	11	99,662,954 (GRCm39)	missense	unknown
R8911:Gm11595	UTSW	11	99,663,564 (GRCm39)	missense	unknown
R9632:Gm11595	UTSW	11	99,663,097 (GRCm39)	nonsense	probably null

Posted On

2012-04-20