Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Gm12794'

471216

Institutional Source

Beutler Lab

Gene Symbol

Gm12794

Ensembl Gene

ENSMUSG00000070890

Gene Name

predicted gene 12794

Synonyms

MMRRC Submission

043246-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101940407-101943183 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101941701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 290 (F290L)

Ref Sequence

ENSEMBL: ENSMUSP00000051550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052027]

AlphaFold

L7MTS5

Predicted Effect

probably benign
Transcript: ENSMUST00000052027
AA Change: F290L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: F290L

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	257	409	9e-11	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,070,161	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,773,427	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,570,537	Y286*	probably null	Het
Armc4	T	C	18: 7,285,706	E219G	probably benign	Het
Arpp21	T	C	9: 112,185,686	T17A	probably benign	Het
Atp5s	T	C	12: 69,743,784	V185A	probably benign	Het
Bnip2	T	C	9: 69,999,238	I147T	probably damaging	Het
Ccr8	T	C	9: 120,093,827	Y3H	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Cul7	G	A	17: 46,657,757	G553S	probably damaging	Het
Cyp21a1	A	G	17: 34,803,176	I206T	probably benign	Het
Dennd4b	A	G	3: 90,270,965	D488G	probably damaging	Het
Dip2b	T	C	15: 100,209,694	L1195P	probably benign	Het
Dock5	T	A	14: 67,857,994	H77L	probably benign	Het
Fbxw13	C	T	9: 109,192,666		probably null	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Gbf1	G	T	19: 46,246,221		probably null	Het
Gm4846	T	C	1: 166,486,953	I374V	probably benign	Het
Gsk3b	C	A	16: 38,193,953	P258T	probably damaging	Het
Igsf5	T	C	16: 96,364,049	V8A	probably benign	Het
Il22	T	A	10: 118,205,166	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,725,534	*517Q	probably null	Het
Iqca	T	A	1: 90,080,948	D450V	probably damaging	Het
Itga5	T	C	15: 103,351,429	D647G	probably benign	Het
Myh7	T	G	14: 54,989,078	N408T	probably damaging	Het
Mylk3	T	C	8: 85,328,637	M564V	probably damaging	Het
Nsd2	T	A	5: 33,855,603	M407K	probably damaging	Het
Oprd1	C	T	4: 132,144,163	V75I	probably benign	Het
Poli	G	A	18: 70,517,440	H310Y	probably benign	Het
Ptch1	C	T	13: 63,525,115	R755H	probably damaging	Het
Pygl	A	T	12: 70,199,720	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,039,848	L341P	possibly damaging	Het
Slc47a1	A	G	11: 61,344,342	V555A	probably benign	Het
Slc8a2	C	A	7: 16,145,284	T565K	possibly damaging	Het
Snx14	T	C	9: 88,403,274	I446V	possibly damaging	Het
Syde1	T	C	10: 78,590,117	Y72C	probably damaging	Het
Trim37	C	T	11: 87,145,551	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,814,962	S530R	probably benign	Het
Vps13c	T	C	9: 67,954,971	S2957P	probably damaging	Het
Wdr41	T	C	13: 94,997,187		probably null	Het
Zyg11b	T	C	4: 108,245,013	K504E	probably damaging	Het

Other mutations in Gm12794

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Gm12794	APN	4	101941701	missense	probably benign	0.02
IGL01360:Gm12794	APN	4	101940468	missense	possibly damaging	0.94
IGL01837:Gm12794	APN	4	101941453	missense	probably damaging	1.00
IGL01870:Gm12794	APN	4	101940690	missense	probably benign	0.03
IGL02040:Gm12794	APN	4	101941134	missense	possibly damaging	0.94
IGL03264:Gm12794	APN	4	101941132	missense	probably damaging	0.99
R0033:Gm12794	UTSW	4	101941684	missense	probably benign
R0334:Gm12794	UTSW	4	101941584	missense	probably benign	0.01
R0846:Gm12794	UTSW	4	101941250	missense	probably benign	0.00
R1464:Gm12794	UTSW	4	101941306	missense	probably damaging	0.97
R1464:Gm12794	UTSW	4	101941306	missense	probably damaging	0.97
R1774:Gm12794	UTSW	4	101940458	missense	probably benign	0.27
R1888:Gm12794	UTSW	4	101941138	missense	probably damaging	0.99
R1888:Gm12794	UTSW	4	101941138	missense	probably damaging	0.99
R4510:Gm12794	UTSW	4	101941560	missense	probably benign	0.00
R4511:Gm12794	UTSW	4	101941560	missense	probably benign	0.00
R4890:Gm12794	UTSW	4	101941591	missense	probably damaging	0.99
R4960:Gm12794	UTSW	4	101941464	missense	probably benign
R5043:Gm12794	UTSW	4	101940524	missense	possibly damaging	0.89
R5297:Gm12794	UTSW	4	101941151	missense	possibly damaging	0.46
R5780:Gm12794	UTSW	4	101941527	missense	probably damaging	1.00
R6409:Gm12794	UTSW	4	101940677	nonsense	probably null
R6452:Gm12794	UTSW	4	101941443	missense	probably benign	0.02
R7619:Gm12794	UTSW	4	101941300	missense	probably benign	0.01
R8460:Gm12794	UTSW	4	101941227	missense	probably benign	0.00
R9202:Gm12794	UTSW	4	101940663	missense	probably damaging	0.98
Z1177:Gm12794	UTSW	4	101941125	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTTTGGCCAGATGAGAAATC -3'
(R):5'- ATATCCCCTACCCCAGTTCAGG -3'

Sequencing Primer
(F):5'- AGAGGTGCTGCCAAATTC -3'
(R):5'- CCCAGTTCAGGCTCTATTAAAAGAG -3'

Posted On

2017-03-31