Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01329:Gm11992'

74419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm11992

Ensembl Gene

ENSMUSG00000040978

Gene Name

predicted gene 11992

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01329

Quality Score

Status

Chromosome

Chromosomal Location

8998592-9019354 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 9018383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 292 (*292W)

Ref Sequence

ENSEMBL: ENSMUSP00000039806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043285]

AlphaFold

Q5SS90

Predicted Effect

probably null
Transcript: ENSMUST00000043285
AA Change: *292W

SMART Domains

Protein: ENSMUSP00000039806
Gene: ENSMUSG00000040978
AA Change: *292W

Domain	Start	End	E-Value	Type
low complexity region	244	255	N/A	INTRINSIC
low complexity region	259	269	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,944,166 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,784,194 (GRCm39)		probably benign	Het
Birc2	T	C	9: 7,860,733 (GRCm39)	Y195C	probably damaging	Het
Cand2	T	C	6: 115,759,755 (GRCm39)	I142T	probably benign	Het
Cdh15	T	C	8: 123,592,062 (GRCm39)		probably benign	Het
Ceacam5	G	A	7: 17,479,534 (GRCm39)	G217D	probably damaging	Het
Cfap54	T	A	10: 92,917,385 (GRCm39)	H25L	unknown	Het
Cfap95	A	G	19: 23,630,100 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,778,889 (GRCm39)	V266A	probably benign	Het
D3Ertd751e	A	G	3: 41,703,132 (GRCm39)	D69G	probably benign	Het
Dnah3	T	C	7: 119,622,164 (GRCm39)	I1518V	probably damaging	Het
Entpd8	A	G	2: 24,974,358 (GRCm39)	K381R	probably benign	Het
Fli1	T	A	9: 32,335,397 (GRCm39)	K345I	probably damaging	Het
G6pd2	T	C	5: 61,967,281 (GRCm39)	V352A	probably damaging	Het
Gbp11	C	T	5: 105,475,482 (GRCm39)		probably null	Het
Ifnar2	T	A	16: 91,188,599 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,230,111 (GRCm39)	K661R	probably benign	Het
Inf2	G	T	12: 112,578,290 (GRCm39)	E651*	probably null	Het
Ints1	A	G	5: 139,753,258 (GRCm39)		probably benign	Het
Iqcf4	T	C	9: 106,447,832 (GRCm39)	K26E	probably benign	Het
Map4k3	A	G	17: 80,951,613 (GRCm39)	V289A	probably benign	Het
Mis18bp1	T	C	12: 65,205,215 (GRCm39)	K319R	possibly damaging	Het
Nubpl	T	C	12: 52,352,638 (GRCm39)	V291A	probably damaging	Het
Or4f56	A	G	2: 111,703,295 (GRCm39)	F302L	probably benign	Het
Or4k15c	C	T	14: 50,321,454 (GRCm39)	R228H	probably benign	Het
Or8b57	A	G	9: 40,003,324 (GRCm39)	S313P	possibly damaging	Het
Or8k38	T	C	2: 86,488,551 (GRCm39)	N84D	probably benign	Het
Otof	A	G	5: 30,598,723 (GRCm39)	S29P	probably benign	Het
Pcca	A	G	14: 122,927,545 (GRCm39)	D436G	possibly damaging	Het
Rasef	T	A	4: 73,645,882 (GRCm39)	T496S	probably damaging	Het
Saa2	A	G	7: 46,402,896 (GRCm39)	D49G	probably benign	Het
Scart1	T	A	7: 139,804,552 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,547,852 (GRCm39)	I1015V	probably benign	Het
Sim2	T	C	16: 93,907,119 (GRCm39)	Y154H	possibly damaging	Het
Spag17	A	G	3: 100,002,865 (GRCm39)	H1863R	probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Svil	A	G	18: 5,064,501 (GRCm39)	E1111G	probably benign	Het
Trabd2b	T	C	4: 114,266,322 (GRCm39)	V112A	probably damaging	Het
Vmn1r205	T	C	13: 22,776,273 (GRCm39)	I276M	probably benign	Het
Vps13d	A	T	4: 144,882,776 (GRCm39)	I939N	possibly damaging	Het
Zc3h11a	T	C	1: 133,553,600 (GRCm39)	M515V	probably benign	Het
Zfp457	T	C	13: 67,442,330 (GRCm39)	T82A	possibly damaging	Het

Other mutations in Gm11992

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01837:Gm11992	APN	11	9,011,266 (GRCm39)	missense	probably damaging	1.00
IGL02405:Gm11992	APN	11	9,009,939 (GRCm39)	missense	probably benign	0.00
IGL02875:Gm11992	APN	11	9,002,887 (GRCm39)	unclassified	probably benign
P0023:Gm11992	UTSW	11	9,002,846 (GRCm39)	missense	probably damaging	1.00
R5100:Gm11992	UTSW	11	9,011,290 (GRCm39)	missense	probably damaging	0.99
R5471:Gm11992	UTSW	11	9,018,333 (GRCm39)	critical splice acceptor site	probably null
R5935:Gm11992	UTSW	11	9,002,711 (GRCm39)	missense	probably damaging	1.00
R6715:Gm11992	UTSW	11	9,011,214 (GRCm39)	missense	probably damaging	1.00
R7559:Gm11992	UTSW	11	9,002,747 (GRCm39)	missense	possibly damaging	0.94
R7910:Gm11992	UTSW	11	8,999,165 (GRCm39)	missense	probably damaging	1.00
R8397:Gm11992	UTSW	11	9,011,305 (GRCm39)	missense	probably damaging	1.00
R9696:Gm11992	UTSW	11	9,006,438 (GRCm39)	missense	probably benign	0.01
R9702:Gm11992	UTSW	11	9,006,568 (GRCm39)	missense	probably benign	0.05

Posted On

2013-10-07