Mutagenetix > Incidental Mutation

Incidental Mutation 'R1421:Gm43302'

159808

Institutional Source

Beutler Lab

Gene Symbol

Gm43302

Ensembl Gene

ENSMUSG00000079362

Gene Name

predicted gene 43302

Synonyms

MMRRC Submission

039477-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105362773-105441561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105365215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 598 (T598A)

Ref Sequence

ENSEMBL: ENSMUSP00000069042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050011] [ENSMUST00000065588]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050011
AA Change: T598A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: T598A

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	7.6e-118	PFAM
Pfam:GBP_C	281	575	2.1e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065588
AA Change: T598A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069042
Gene: ENSMUSG00000105096
AA Change: T598A

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	5e-115	PFAM
Pfam:GBP_C	281	575	3.6e-117	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196634

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,923 (GRCm39)	T1344A	probably benign	Het
Abcf1	G	A	17: 36,271,801 (GRCm39)	A375V	probably damaging	Het
Adam20	T	A	8: 41,249,784 (GRCm39)	H631Q	possibly damaging	Het
Adcy10	T	C	1: 165,391,516 (GRCm39)	S1258P	probably damaging	Het
Agtpbp1	A	G	13: 59,643,389 (GRCm39)	I717T	possibly damaging	Het
Ahnak	T	A	19: 8,992,995 (GRCm39)	F4760I	possibly damaging	Het
Ano6	A	G	15: 95,811,266 (GRCm39)	K122R	probably benign	Het
Arhgap5	T	C	12: 52,563,631 (GRCm39)	C201R	probably damaging	Het
Atg16l1	T	C	1: 87,714,080 (GRCm39)		probably benign	Het
Cdhr3	A	T	12: 33,110,291 (GRCm39)	I331K	probably damaging	Het
Coq8a	A	G	1: 179,998,006 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,942,511 (GRCm39)	V662A	probably damaging	Het
Cspg4	T	A	9: 56,803,910 (GRCm39)	M1667K	probably benign	Het
Dnah7a	A	G	1: 53,580,032 (GRCm39)		probably benign	Het
Dnajc6	A	T	4: 101,468,513 (GRCm39)	Y251F	probably damaging	Het
Dpy19l4	A	T	4: 11,304,011 (GRCm39)	M133K	probably benign	Het
Emb	T	C	13: 117,408,624 (GRCm39)	Y322H	probably benign	Het
Gcm1	A	T	9: 77,966,982 (GRCm39)	H67L	probably damaging	Het
Gls2	A	T	10: 128,037,217 (GRCm39)	K253*	probably null	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Gramd1a	T	A	7: 30,842,291 (GRCm39)	Q90L	probably damaging	Het
Grhl2	A	G	15: 37,309,960 (GRCm39)	Y352C	probably damaging	Het
Ifi203-ps	T	C	1: 173,625,563 (GRCm39)		noncoding transcript	Het
Ifitm2	T	C	7: 140,534,972 (GRCm39)	I121V	probably benign	Het
Insyn2a	A	T	7: 134,500,960 (GRCm39)		probably benign	Het
Kptn	T	G	7: 15,856,949 (GRCm39)		probably benign	Het
L2hgdh	C	T	12: 69,748,092 (GRCm39)	D345N	probably benign	Het
Lgals12	T	C	19: 7,584,079 (GRCm39)	H6R	probably benign	Het
Lrrc4b	A	G	7: 44,110,475 (GRCm39)	I116V	probably benign	Het
Misp	A	G	10: 79,662,681 (GRCm39)	D366G	probably damaging	Het
Nav1	T	C	1: 135,512,748 (GRCm39)	E104G	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Parp1	T	C	1: 180,427,653 (GRCm39)		probably benign	Het
Pikfyve	G	A	1: 65,310,470 (GRCm39)	G1919D	probably damaging	Het
Pomt1	A	G	2: 32,126,765 (GRCm39)		probably benign	Het
Prrc2b	C	T	2: 32,090,990 (GRCm39)	S454F	possibly damaging	Het
Selenbp1	T	C	3: 94,851,183 (GRCm39)	S360P	probably benign	Het
Slc6a12	T	A	6: 121,336,085 (GRCm39)	I352N	probably damaging	Het
Snx9	G	A	17: 5,952,759 (GRCm39)	G197D	probably benign	Het
Ston1	T	C	17: 88,943,221 (GRCm39)	V209A	probably benign	Het
Taf7l2	A	G	10: 115,949,343 (GRCm39)	V61A	probably damaging	Het
Tex36	A	T	7: 133,197,078 (GRCm39)		probably null	Het
Tnnt3	A	G	7: 142,065,103 (GRCm39)	E108G	probably damaging	Het
Vmn2r98	T	A	17: 19,285,440 (GRCm39)	F87I	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wdr64	T	C	1: 175,594,716 (GRCm39)	I479T	possibly damaging	Het
Xrcc5	A	G	1: 72,349,636 (GRCm39)	N22D	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp735	C	A	11: 73,601,523 (GRCm39)	L156I	probably benign	Het
Zfp820	A	T	17: 22,038,861 (GRCm39)	Y156N	possibly damaging	Het

Other mutations in Gm43302

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0033:Gm43302	UTSW	5	105,424,710 (GRCm39)	missense	probably benign	0.12
R0066:Gm43302	UTSW	5	105,438,766 (GRCm39)	missense	probably damaging	1.00
R0764:Gm43302	UTSW	5	105,428,355 (GRCm39)	missense	probably benign
R1400:Gm43302	UTSW	5	105,422,622 (GRCm39)	missense	probably damaging	1.00
R1539:Gm43302	UTSW	5	105,422,635 (GRCm39)	missense	probably benign	0.02
R1774:Gm43302	UTSW	5	105,423,660 (GRCm39)	missense	probably benign	0.01
R1842:Gm43302	UTSW	5	105,425,602 (GRCm39)	missense	probably benign	0.01
R2011:Gm43302	UTSW	5	105,438,846 (GRCm39)	missense	probably damaging	1.00
R2131:Gm43302	UTSW	5	105,422,610 (GRCm39)	missense	probably damaging	0.99
R2174:Gm43302	UTSW	5	105,422,216 (GRCm39)	missense	probably benign	0.12
R3687:Gm43302	UTSW	5	105,428,132 (GRCm39)	missense	probably damaging	1.00
R5322:Gm43302	UTSW	5	105,365,347 (GRCm39)	missense	probably benign	0.00
R5396:Gm43302	UTSW	5	105,427,955 (GRCm39)	nonsense	probably null
R5668:Gm43302	UTSW	5	105,423,678 (GRCm39)	missense	probably benign
R5723:Gm43302	UTSW	5	105,365,352 (GRCm39)	missense	possibly damaging	0.89
R6073:Gm43302	UTSW	5	105,438,825 (GRCm39)	missense	probably damaging	0.96
R6159:Gm43302	UTSW	5	105,436,894 (GRCm39)	missense	probably benign	0.11
R6225:Gm43302	UTSW	5	105,425,605 (GRCm39)	nonsense	probably null
R6483:Gm43302	UTSW	5	105,423,726 (GRCm39)	missense	probably benign	0.01
R6537:Gm43302	UTSW	5	105,438,861 (GRCm39)	missense	possibly damaging	0.94
R6678:Gm43302	UTSW	5	105,438,820 (GRCm39)	missense	probably benign	0.14
R6889:Gm43302	UTSW	5	105,428,004 (GRCm39)	missense	probably benign	0.00
R7163:Gm43302	UTSW	5	105,441,493 (GRCm39)	splice site	probably null
R7790:Gm43302	UTSW	5	105,425,691 (GRCm39)	missense	probably benign	0.03
R7893:Gm43302	UTSW	5	105,436,891 (GRCm39)	nonsense	probably null
R8047:Gm43302	UTSW	5	105,422,623 (GRCm39)	missense	possibly damaging	0.74
R8350:Gm43302	UTSW	5	105,422,573 (GRCm39)	critical splice donor site	probably null
R8450:Gm43302	UTSW	5	105,422,573 (GRCm39)	critical splice donor site	probably null
R8495:Gm43302	UTSW	5	105,424,570 (GRCm39)	missense	possibly damaging	0.79
R8728:Gm43302	UTSW	5	105,438,793 (GRCm39)	missense	probably benign	0.30
R8856:Gm43302	UTSW	5	105,438,739 (GRCm39)	missense	probably damaging	1.00
R8956:Gm43302	UTSW	5	105,425,602 (GRCm39)	missense	possibly damaging	0.79
R9009:Gm43302	UTSW	5	105,427,974 (GRCm39)	missense	probably benign	0.01
RF014:Gm43302	UTSW	5	105,422,623 (GRCm39)	missense	possibly damaging	0.94
Z1177:Gm43302	UTSW	5	105,424,662 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCATAGCTTCCATAGGGCTCATTTC -3'
(R):5'- TGGGCATGAACATAAGCACATCTTCAC -3'

Sequencing Primer
(F):5'- GGCTCATTTCAAAAATGTGTCCTC -3'
(R):5'- ATGCACTAAGGACTGCTTGC -3'

Posted On

2014-03-14