Mutagenetix > Incidental Mutation

Incidental Mutation 'R7868:Gm8257'

607937

Institutional Source

Beutler Lab

Gene Symbol

Gm8257

Ensembl Gene

ENSMUSG00000079265

Gene Name

predicted pseudogene 8257

Synonyms

MMRRC Submission

045920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7868 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44886989-44894814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44894754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 12 (E12V)

Ref Sequence

ENSEMBL: ENSMUSP00000128723 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111860] [ENSMUST00000169583] [ENSMUST00000179215]

AlphaFold

E9Q8R3

Predicted Effect

probably benign
Transcript: ENSMUST00000111860

SMART Domains

Protein: ENSMUSP00000107491
Gene: ENSMUSG00000079265

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	93	6.4e-35	PFAM
coiled coil region	108	141	N/A	INTRINSIC
transmembrane domain	201	223	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169583
AA Change: E12V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128723
Gene: ENSMUSG00000079265
AA Change: E12V

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	3.5e-27	PFAM
coiled coil region	144	177	N/A	INTRINSIC
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179215

SMART Domains

Protein: ENSMUSP00000136936
Gene: ENSMUSG00000079265

Domain	Start	End	E-Value	Type
Pfam:Takusan	11	94	8.9e-36	PFAM
coiled coil region	109	142	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,478,257 (GRCm39)		probably null	Het
Acacb	A	G	5: 114,386,288 (GRCm39)	E2274G	probably benign	Het
Adam7	A	G	14: 68,770,090 (GRCm39)	I21T	possibly damaging	Het
Aldh3b3	C	T	19: 4,018,492 (GRCm39)	R57*	probably null	Het
Arhgap22	T	C	14: 33,086,473 (GRCm39)		probably benign	Het
B4galt5	G	T	2: 167,143,340 (GRCm39)	Y361*	probably null	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bsn	G	T	9: 107,992,098 (GRCm39)	A1218D	possibly damaging	Het
Ccdc141	T	C	2: 76,938,756 (GRCm39)	D283G	probably damaging	Het
Ccdc33	T	A	9: 57,976,374 (GRCm39)	I547F	probably benign	Het
Chdh	A	G	14: 29,753,288 (GRCm39)	N66D	probably benign	Het
Ckap2l	T	A	2: 129,127,209 (GRCm39)	Q323L	probably damaging	Het
Cpvl	T	A	6: 53,951,745 (GRCm39)	I13F	possibly damaging	Het
Creb3l2	G	A	6: 37,312,804 (GRCm39)	P410L	probably damaging	Het
Dna2	T	C	10: 62,805,643 (GRCm39)	V960A	probably benign	Het
Dop1a	G	A	9: 86,384,037 (GRCm39)		probably null	Het
Dpysl5	A	T	5: 30,902,760 (GRCm39)	D64V	probably damaging	Het
Dysf	A	G	6: 84,091,081 (GRCm39)	Q1041R	probably benign	Het
Efcab7	T	C	4: 99,746,154 (GRCm39)	V242A	probably benign	Het
Ehbp1	G	A	11: 22,096,542 (GRCm39)	R341*	probably null	Het
Eif1ad8	G	T	12: 87,563,388 (GRCm39)		probably benign	Het
Fbxo32	A	T	15: 58,077,986 (GRCm39)	W8R	probably damaging	Het
Fpgs	T	C	2: 32,573,472 (GRCm39)	N455D	probably damaging	Het
Fsip1	G	A	2: 117,966,967 (GRCm39)	Q453*	probably null	Het
Kdm3a	A	T	6: 71,572,473 (GRCm39)	D1029E	probably benign	Het
Lipo4	T	G	19: 33,488,968 (GRCm39)	Q205P	possibly damaging	Het
Lpar6	A	T	14: 73,476,435 (GRCm39)	N132I	probably damaging	Het
Lrp1b	C	T	2: 41,339,246 (GRCm39)	G866S		Het
Man2c1	T	C	9: 57,045,270 (GRCm39)	F460L	probably damaging	Het
Map3k7cl	T	C	16: 87,378,100 (GRCm39)	V72A	probably damaging	Het
Map4k1	A	T	7: 28,699,387 (GRCm39)		probably null	Het
Matn1	A	G	4: 130,682,311 (GRCm39)	E496G	probably damaging	Het
Mfsd2a	A	T	4: 122,850,648 (GRCm39)	V76E	possibly damaging	Het
Mmut	C	T	17: 41,257,934 (GRCm39)	R367C	probably damaging	Het
Mtpap	A	G	18: 4,380,673 (GRCm39)	E117G	probably damaging	Het
Muc17	T	A	5: 137,175,625 (GRCm39)	N15I		Het
Ndufa10	A	G	1: 92,388,169 (GRCm39)	Y275H	probably damaging	Het
Nlrc4	A	T	17: 74,755,047 (GRCm39)	H56Q	possibly damaging	Het
Nrde2	G	A	12: 100,097,446 (GRCm39)	R785C	possibly damaging	Het
Nsun4	C	A	4: 115,891,329 (GRCm39)	C350F	probably benign	Het
Or10x1	A	G	1: 174,196,551 (GRCm39)	T23A	probably benign	Het
Or51f23b	A	G	7: 102,402,812 (GRCm39)	L108P	possibly damaging	Het
Or8g2	T	A	9: 39,821,282 (GRCm39)	F61Y	probably benign	Het
Or9s14	G	A	1: 92,536,237 (GRCm39)	G226D	possibly damaging	Het
Pdcd7	T	A	9: 65,254,261 (GRCm39)	C280S	probably damaging	Het
Peak1	G	T	9: 56,167,754 (GRCm39)	T58K	probably damaging	Het
Phactr2	T	C	10: 13,108,353 (GRCm39)	E573G	probably damaging	Het
Pramel27	A	G	4: 143,578,154 (GRCm39)	H138R	possibly damaging	Het
Ptprz1	G	A	6: 23,000,963 (GRCm39)	A1018T	not run	Het
Ralgapa1	G	T	12: 55,659,423 (GRCm39)	D2032E	probably benign	Het
Rapgef4	T	A	2: 72,031,481 (GRCm39)	N488K	probably benign	Het
Slc1a2	A	G	2: 102,591,530 (GRCm39)	D420G	probably benign	Het
Smyd5	T	A	6: 85,421,297 (GRCm39)	L337Q	probably damaging	Het
Tenm4	G	A	7: 96,555,587 (GRCm39)	R2764H	possibly damaging	Het
Tex35	A	T	1: 156,926,908 (GRCm39)	Y195*	probably null	Het
Tln2	T	C	9: 67,255,508 (GRCm39)	K690E	probably damaging	Het
Trpc4	A	G	3: 54,209,707 (GRCm39)	T691A	probably benign	Het
Tsr1	T	A	11: 74,791,158 (GRCm39)	F246I	possibly damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
Ubr4	A	T	4: 139,187,344 (GRCm39)	Y669F	unknown	Het
Uox	A	C	3: 146,316,029 (GRCm39)	D12A	probably benign	Het
Wdr17	A	G	8: 55,149,302 (GRCm39)		probably null	Het

Other mutations in Gm8257

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Gm8257	APN	14	44,892,800 (GRCm39)	missense	probably damaging	1.00
IGL02616:Gm8257	APN	14	44,892,683 (GRCm39)	missense	probably damaging	1.00
R4602:Gm8257	UTSW	14	44,893,774 (GRCm39)	missense	probably damaging	1.00
R5678:Gm8257	UTSW	14	44,894,706 (GRCm39)	missense	probably damaging	1.00
R7264:Gm8257	UTSW	14	44,893,817 (GRCm39)	missense	probably damaging	1.00
R7374:Gm8257	UTSW	14	44,887,740 (GRCm39)	missense	probably benign	0.00
R8182:Gm8257	UTSW	14	44,887,623 (GRCm39)	missense	probably benign	0.38
R8944:Gm8257	UTSW	14	44,893,849 (GRCm39)	missense	probably damaging	1.00
R9036:Gm8257	UTSW	14	44,893,877 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CCAGCTTGTAAGATCTTCTCAGC -3'
(R):5'- AACTGGTCAATTTGGGGAGAAC -3'

Sequencing Primer
(F):5'- CTTGTAAGATCTTCTCAGCAAAGGCC -3'
(R):5'- TAGCCTTTCCCAGTGACATCATAAG -3'

Posted On

2019-12-20