Mutagenetix > Incidental Mutation

Incidental Mutation 'R8728:Gm43302'

662565

Institutional Source

Beutler Lab

Gene Symbol

Gm43302

Ensembl Gene

ENSMUSG00000079362

Gene Name

predicted gene 43302

Synonyms

MMRRC Submission

068576-MU

Accession Numbers

Essential gene?

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

Stock #

R8728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105362773-105441561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105438793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 32 (I32V)

Ref Sequence

ENSEMBL: ENSMUSP00000062528 (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: I32V

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: I32V

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: I32V

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142518
Gene: ENSMUSG00000104713
AA Change: I32V

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

possibly damaging
Transcript: ENSMUST00000200045
AA Change: I32V

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142994
Gene: ENSMUSG00000104713
AA Change: I32V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	G	14: 66,295,086 (GRCm39)	L253P	probably damaging	Het
Adamts20	C	T	15: 94,229,281 (GRCm39)	G946D	probably benign	Het
Afdn	A	G	17: 14,119,207 (GRCm39)	R1648G	probably damaging	Het
Ak9	G	A	10: 41,282,959 (GRCm39)	A1242T		Het
Anxa9	T	C	3: 95,209,979 (GRCm39)	K127E	probably damaging	Het
Atp6v0a2	T	C	5: 124,796,152 (GRCm39)	S739P	probably benign	Het
Bloc1s6	A	T	2: 122,588,026 (GRCm39)	M122L	possibly damaging	Het
Bltp3b	A	T	10: 89,618,582 (GRCm39)	M274L	probably benign	Het
Bms1	A	G	6: 118,369,331 (GRCm39)	I990T	possibly damaging	Het
Ccdc9b	T	C	2: 118,587,793 (GRCm39)	T514A	probably benign	Het
Cdk14	G	A	5: 5,470,117 (GRCm39)		silent	Het
Celsr3	T	C	9: 108,723,940 (GRCm39)	L2899S	probably benign	Het
Ces1b	A	T	8: 93,798,576 (GRCm39)	D203E	probably benign	Het
Cnnm1	A	G	19: 43,473,365 (GRCm39)	N753S	probably benign	Het
Col19a1	C	T	1: 24,365,113 (GRCm39)	G501R	probably damaging	Het
Cym	A	G	3: 107,125,991 (GRCm39)	F91L	possibly damaging	Het
Cyp2c67	T	G	19: 39,614,605 (GRCm39)	R307S	probably damaging	Het
Cyp3a59	G	A	5: 146,035,122 (GRCm39)		probably null	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Dagla	G	A	19: 10,225,771 (GRCm39)	R798C	probably damaging	Het
Dcaf1	C	T	9: 106,724,005 (GRCm39)	R478C	possibly damaging	Het
Dcbld1	T	C	10: 52,109,929 (GRCm39)	L28P	probably benign	Het
Ddr2	T	C	1: 169,829,552 (GRCm39)	D234G	possibly damaging	Het
Fam83a	T	A	15: 57,873,062 (GRCm39)	M297K	possibly damaging	Het
Galnt18	T	A	7: 111,119,243 (GRCm39)	D426V	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm9944	T	C	4: 144,179,601 (GRCm39)	Y96C	unknown	Het
Hdac1-ps	A	G	17: 78,800,332 (GRCm39)	K441R	probably benign	Het
Impdh2	C	T	9: 108,437,562 (GRCm39)		probably benign	Het
Iws1	G	A	18: 32,216,334 (GRCm39)	R358Q	probably damaging	Het
Kctd18	G	T	1: 58,002,289 (GRCm39)	D179E	probably damaging	Het
Krt13	T	G	11: 100,012,318 (GRCm39)	S2R	probably null	Het
Krt78	A	T	15: 101,856,225 (GRCm39)	S529T	probably benign	Het
Krtap4-7	C	G	11: 99,534,788 (GRCm39)	C25S	unknown	Het
Lama1	T	C	17: 68,125,663 (GRCm39)	I2940T		Het
Lmnb2	A	G	10: 80,740,913 (GRCm39)		probably null	Het
Lrrc27	A	T	7: 138,822,555 (GRCm39)	E482V	probably damaging	Het
Lrrc72	G	A	12: 36,258,656 (GRCm39)	T67M	probably benign	Het
Malrd1	T	A	2: 15,701,753 (GRCm39)	C789*	probably null	Het
Mei1	T	G	15: 81,966,182 (GRCm39)	V268G		Het
Mical3	C	A	6: 120,950,514 (GRCm39)	A966S	probably damaging	Het
Mmp10	C	T	9: 7,502,480 (GRCm39)	P29L	probably benign	Het
Mroh2b	T	C	15: 4,935,122 (GRCm39)	F186L	probably damaging	Het
Muc4	A	T	16: 32,754,952 (GRCm38)	T1609S	unknown	Het
Myrfl	A	T	10: 116,634,545 (GRCm39)	C616*	probably null	Het
Ncor1	C	T	11: 62,221,685 (GRCm39)	A946T	probably benign	Het
Or10al6	C	A	17: 38,082,642 (GRCm39)	L33M	probably damaging	Het
Or2t48	T	C	11: 58,420,027 (GRCm39)	T262A	probably benign	Het
Pbp2	T	C	6: 135,287,104 (GRCm39)	Y81C	probably benign	Het
Plekhh1	C	A	12: 79,115,862 (GRCm39)	Q802K	possibly damaging	Het
Pnldc1	A	T	17: 13,116,165 (GRCm39)	F279Y	probably damaging	Het
Psmb5	A	T	14: 54,855,261 (GRCm39)	L63Q	probably damaging	Het
Rasa3	C	T	8: 13,636,873 (GRCm39)		probably null	Het
Rbm4b	G	A	19: 4,812,219 (GRCm39)	M209I	probably benign	Het
Rnf38	A	G	4: 44,131,615 (GRCm39)	S421P	probably benign	Het
Sema5a	T	C	15: 32,562,703 (GRCm39)	V238A	probably damaging	Het
Sesn1	G	T	10: 41,779,771 (GRCm39)	G402W	probably damaging	Het
Six4	A	G	12: 73,159,180 (GRCm39)	V260A	probably benign	Het
Srrm2	G	A	17: 24,038,831 (GRCm39)	R1825Q	unknown	Het
Stat1	G	A	1: 52,178,353 (GRCm39)	W262*	probably null	Het
Tcf20	A	T	15: 82,739,158 (GRCm39)	D764E	probably damaging	Het
Tgm2	T	C	2: 157,962,065 (GRCm39)	N585D	probably benign	Het
Tmf1	A	T	6: 97,133,821 (GRCm39)	L1039H	probably damaging	Het
Trak2	A	G	1: 58,974,934 (GRCm39)	V86A	probably benign	Het
Ttc39b	A	G	4: 83,171,247 (GRCm39)	I202T	probably damaging	Het
Vmn1r30	A	G	6: 58,412,460 (GRCm39)	F124S	probably benign	Het
Vwa7	T	A	17: 35,236,133 (GRCm39)	F29Y	probably damaging	Het
Wdr64	A	T	1: 175,559,079 (GRCm39)	M281L	probably benign	Het
Zfand2a	C	T	5: 139,467,753 (GRCm39)	V40M	possibly damaging	Het
Zfp865	G	C	7: 5,034,819 (GRCm39)	A935P	probably 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
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
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
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'- AGGGATTCAATTTAGCATGGGG -3'
(R):5'- ACTGGTCTTAGCTGCTGAGC -3'

Sequencing Primer
(F):5'- GGCTTTGCTAAAAAGGAGTTCTACTG -3'
(R):5'- GCTGCTGAGCCATTGGG -3'

Posted On

2021-03-08