Mutagenetix > Incidental Mutation

Incidental Mutation 'R0764:Gm43302'

72545

Institutional Source

Beutler Lab

Gene Symbol

Gm43302

Ensembl Gene

ENSMUSG00000079362

Gene Name

predicted gene 43302

Synonyms

MMRRC Submission

038944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105214907-105293695 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105280489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 130 (I130F)

Ref Sequence

ENSEMBL: ENSMUSP00000142518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050011] [ENSMUST00000196520] [ENSMUST00000200045]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050011
AA Change: I130F

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

SMART Domains

Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: I130F

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: ENSMUST00000196520
AA Change: I130F

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

SMART Domains

Protein: ENSMUSP00000142518
Gene: ENSMUSG00000104713
AA Change: I130F

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	2.8e-124	PFAM
Pfam:GBP_C	281	575	2.1e-117	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199944

Predicted Effect

probably benign
Transcript: ENSMUST00000200045

SMART Domains

Protein: ENSMUSP00000142994
Gene: ENSMUSG00000104713

Domain	Start	End	E-Value	Type
Pfam:GBP	16	62	7.4e-19	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.1%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,059,946	Y898N	probably damaging	Het
Acp4	T	C	7: 44,252,314		probably benign	Het
Adipor2	T	C	6: 119,357,254	I332V	probably benign	Het
Ago3	T	A	4: 126,355,092	K555N	possibly damaging	Het
Angpt4	A	G	2: 151,911,284		probably benign	Het
Ano5	G	T	7: 51,537,842		probably benign	Het
Ap3b1	C	T	13: 94,479,879		probably benign	Het
BC025446	T	A	15: 75,220,723	F97Y	probably benign	Het
Cbl	A	T	9: 44,164,152	C399S	probably damaging	Het
Cdkl2	C	A	5: 92,020,277	V353L	probably benign	Het
Celsr3	A	G	9: 108,827,818	Y500C	probably damaging	Het
Cep162	A	G	9: 87,201,745	S1242P	probably damaging	Het
Crhr1	C	T	11: 104,159,326	R66W	probably damaging	Het
Ddx49	T	C	8: 70,297,257	E170G	probably benign	Het
Fam193a	T	C	5: 34,443,341	F305L	probably damaging	Het
Fam76a	C	T	4: 132,910,699	G198R	probably damaging	Het
Hectd4	T	A	5: 121,286,769	I745N	possibly damaging	Het
Ina	T	A	19: 47,023,648	*502K	probably null	Het
Kdm1b	A	T	13: 47,068,603	D506V	possibly damaging	Het
Lrrk2	A	G	15: 91,775,046		probably null	Het
Naip5	A	T	13: 100,217,105	D1215E	probably benign	Het
Neb	A	G	2: 52,216,867		probably benign	Het
Nectin2	T	A	7: 19,749,171		probably null	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Olfr1243	A	G	2: 89,527,996	V138A	probably benign	Het
Olfr170	G	T	16: 19,606,432	P79T	probably damaging	Het
Osbp	A	G	19: 11,984,156		probably benign	Het
Otog	A	G	7: 46,300,494	D2460G	probably benign	Het
Pcgf1	T	C	6: 83,079,169	C2R	probably damaging	Het
Per2	C	T	1: 91,429,420	V674M	probably damaging	Het
Pias3	C	T	3: 96,701,295	P218S	probably damaging	Het
Plod3	C	T	5: 136,989,583		probably benign	Het
Purb	C	T	11: 6,475,661	V76M	probably damaging	Het
Ranbp1	C	A	16: 18,240,158	E181*	probably null	Het
Rit2	T	C	18: 31,153,701		probably benign	Het
Rnf103	C	A	6: 71,509,582	T399K	probably damaging	Het
Slc22a13	T	C	9: 119,208,680		probably null	Het
Slc35f4	T	A	14: 49,306,339		probably benign	Het
Sucla2	C	T	14: 73,560,634		probably benign	Het
Tnfrsf17	C	T	16: 11,315,199	T47M	possibly damaging	Het
Tram1	A	G	1: 13,579,709	I97T	probably damaging	Het
Ttc38	T	C	15: 85,846,403		probably benign	Het
Zfp113	T	A	5: 138,145,244	Q248L	probably damaging	Het

Other mutations in Gm43302

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0033:Gm43302	UTSW	5	105276844	missense	probably benign	0.12
R0066:Gm43302	UTSW	5	105290900	missense	probably damaging	1.00
R1400:Gm43302	UTSW	5	105274756	missense	probably damaging	1.00
R1421:Gm43302	UTSW	5	105217349	missense	probably benign
R1539:Gm43302	UTSW	5	105274769	missense	probably benign	0.02
R1774:Gm43302	UTSW	5	105275794	missense	probably benign	0.01
R1842:Gm43302	UTSW	5	105277736	missense	probably benign	0.01
R2011:Gm43302	UTSW	5	105290980	missense	probably damaging	1.00
R2131:Gm43302	UTSW	5	105274744	missense	probably damaging	0.99
R2174:Gm43302	UTSW	5	105274350	missense	probably benign	0.12
R3687:Gm43302	UTSW	5	105280266	missense	probably damaging	1.00
R5322:Gm43302	UTSW	5	105217481	missense	probably benign	0.00
R5396:Gm43302	UTSW	5	105280089	nonsense	probably null
R5668:Gm43302	UTSW	5	105275812	missense	probably benign
R5723:Gm43302	UTSW	5	105217486	missense	possibly damaging	0.89
R6073:Gm43302	UTSW	5	105290959	missense	probably damaging	0.96
R6159:Gm43302	UTSW	5	105289028	missense	probably benign	0.11
R6225:Gm43302	UTSW	5	105277739	nonsense	probably null
R6483:Gm43302	UTSW	5	105275860	missense	probably benign	0.01
R6537:Gm43302	UTSW	5	105290995	missense	possibly damaging	0.94
R6678:Gm43302	UTSW	5	105290954	missense	probably benign	0.14
R6889:Gm43302	UTSW	5	105280138	missense	probably benign	0.00
R7163:Gm43302	UTSW	5	105293627	splice site	probably null
R7790:Gm43302	UTSW	5	105277825	missense	probably benign	0.03
R7893:Gm43302	UTSW	5	105289025	nonsense	probably null
R8047:Gm43302	UTSW	5	105274757	missense	possibly damaging	0.74
R8350:Gm43302	UTSW	5	105274707	critical splice donor site	probably null
R8450:Gm43302	UTSW	5	105274707	critical splice donor site	probably null
R8495:Gm43302	UTSW	5	105276704	missense	possibly damaging	0.79
R8728:Gm43302	UTSW	5	105290927	missense	probably benign	0.30
R8856:Gm43302	UTSW	5	105290873	missense	probably damaging	1.00
R8956:Gm43302	UTSW	5	105277736	missense	possibly damaging	0.79
R9009:Gm43302	UTSW	5	105280108	missense	probably benign	0.01
RF014:Gm43302	UTSW	5	105274757	missense	possibly damaging	0.94
Z1177:Gm43302	UTSW	5	105276796	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGGAGGCACTCAGCAAATGAC -3'
(R):5'- ACCTGGAGTAATAAGGCCACAGGAC -3'

Sequencing Primer
(F):5'- TGACATAACTGGCACTTGGC -3'
(R):5'- GACCAGCCCAAGTCCCTTC -3'

Posted On

2013-09-30