Mutagenetix > Incidental Mutation

Incidental Mutation 'R6073:Gm43302'

482571

Institutional Source

Beutler Lab

Gene Symbol

Gm43302

Ensembl Gene

ENSMUSG00000079362

Gene Name

predicted gene 43302

Synonyms

MMRRC Submission

044234-MU

Accession Numbers

Essential gene?

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

Stock #

R6073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105362773-105441561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105438825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 21 (V21A)

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 damaging
Transcript: ENSMUST00000050011
AA Change: V21A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: V21A

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 damaging
Transcript: ENSMUST00000196520
AA Change: V21A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142518
Gene: ENSMUSG00000104713
AA Change: V21A

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

possibly damaging
Transcript: ENSMUST00000200045
AA Change: V21A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142994
Gene: ENSMUSG00000104713
AA Change: V21A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	A	T	18: 62,312,537 (GRCm39)	M96K	probably benign	Het
Aox1	T	C	1: 58,143,668 (GRCm39)		probably null	Het
Bnip5	A	T	17: 29,123,597 (GRCm39)	V367D	probably damaging	Het
C3	C	T	17: 57,513,223 (GRCm39)	G183R	probably null	Het
Cad	A	G	5: 31,219,906 (GRCm39)	T753A	possibly damaging	Het
Cc2d2a	C	T	5: 43,887,317 (GRCm39)	T1249M	probably damaging	Het
Cd74	G	A	18: 60,944,558 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,206,012 (GRCm39)		probably null	Het
Cenpe	T	A	3: 134,965,834 (GRCm39)	L2104*	probably null	Het
Cttnbp2	A	G	6: 18,434,232 (GRCm39)	I542T	probably damaging	Het
Cttnbp2	T	C	6: 18,448,368 (GRCm39)	D97G	probably benign	Het
Dnah10	A	G	5: 124,896,274 (GRCm39)	D3546G	probably benign	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l2	T	G	10: 25,377,730 (GRCm39)	H597Q	probably damaging	Het
Erbin	G	A	13: 103,981,429 (GRCm39)	Q499*	probably null	Het
Erc2	A	T	14: 27,733,593 (GRCm39)	I556F	probably benign	Het
Fscn2	G	T	11: 120,252,613 (GRCm39)	E27*	probably null	Het
Fsd1l	A	G	4: 53,679,994 (GRCm39)	T231A	probably damaging	Het
G6pc1	T	A	11: 101,258,802 (GRCm39)	N60K	probably benign	Het
Heatr3	G	T	8: 88,864,768 (GRCm39)	A41S	probably benign	Het
Hrct1	T	C	4: 43,727,543 (GRCm39)		probably benign	Het
Ihh	T	C	1: 74,990,438 (GRCm39)		probably benign	Het
Jph3	A	T	8: 122,480,291 (GRCm39)	Y323F	probably damaging	Het
Kcnj5	T	C	9: 32,229,096 (GRCm39)	D34G	probably damaging	Het
Magi2	G	A	5: 20,774,286 (GRCm39)	E231K	probably damaging	Het
Muc5b	A	C	7: 141,412,025 (GRCm39)	Y1657S	unknown	Het
Muc5b	G	A	7: 141,402,797 (GRCm39)	C667Y	unknown	Het
Myo10	G	A	15: 25,736,728 (GRCm39)	C459Y	probably damaging	Het
Nemp1	A	G	10: 127,525,112 (GRCm39)	K40E	probably benign	Het
Nipsnap1	T	C	11: 4,838,895 (GRCm39)	F107S	possibly damaging	Het
Ntrk1	T	C	3: 87,698,677 (GRCm39)		probably null	Het
Pabpc1	A	G	15: 36,600,895 (GRCm39)	I305T	probably damaging	Het
Piezo2	A	G	18: 63,145,716 (GRCm39)	F2736S	probably damaging	Het
Pnldc1	T	C	17: 13,109,250 (GRCm39)	Y450C	probably null	Het
Polr2g	A	T	19: 8,774,673 (GRCm39)	V70E	probably damaging	Het
Pramel23	T	C	4: 143,424,838 (GRCm39)	I202V	probably damaging	Het
Prpf8	T	C	11: 75,384,848 (GRCm39)		probably null	Het
Rfxap	T	C	3: 54,714,708 (GRCm39)	Y130C	probably damaging	Het
Rpl3l	A	G	17: 24,949,861 (GRCm39)	E20G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slc39a10	T	C	1: 46,871,772 (GRCm39)	D389G	possibly damaging	Het
Sorbs1	T	C	19: 40,303,101 (GRCm39)	H496R	probably damaging	Het
Spast	G	A	17: 74,680,300 (GRCm39)	V420M	probably damaging	Het
Spata13	C	T	14: 60,987,470 (GRCm39)	T876I	probably damaging	Het
Spata31d1a	T	A	13: 59,850,808 (GRCm39)	N440I	probably damaging	Het
Tdrd1	G	T	19: 56,831,655 (GRCm39)	E349*	probably null	Het
Tie1	A	G	4: 118,339,587 (GRCm39)	V398A	probably benign	Het
Tmem255b	T	A	8: 13,506,958 (GRCm39)	L229Q	probably damaging	Het
Tmem59	T	A	4: 107,050,598 (GRCm39)		probably null	Het
Trim3	G	A	7: 105,266,746 (GRCm39)	R479C	probably damaging	Het
Ucp2	G	A	7: 100,147,338 (GRCm39)	V131M	possibly damaging	Het
Vars1	A	G	17: 35,220,505 (GRCm39)	D29G	probably benign	Het
Vmn2r43	T	C	7: 8,258,184 (GRCm39)	K343R	probably benign	Het
Washc5	T	C	15: 59,207,019 (GRCm39)	K1085E	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp963	A	T	8: 70,195,853 (GRCm39)	C86*	probably null	Het
Zfp977	A	G	7: 42,230,165 (GRCm39)	I120T	probably benign	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
R1421:Gm43302	UTSW	5	105,365,215 (GRCm39)	missense	probably benign
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
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'- AGTGATAGAGACAGTCAAACCTTTG -3'
(R):5'- TGCAGATTCGAGGTTACATGC -3'

Posted On

2017-07-14