Mutagenetix > Incidental Mutation

Incidental Mutation 'R5678:Gm8257'

501930

Institutional Source

Beutler Lab

Gene Symbol

Gm8257

Ensembl Gene

ENSMUSG00000079265

Gene Name

predicted pseudogene 8257

Synonyms

MMRRC Submission

043317-MU

Accession Numbers

Essential gene?

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

Stock #

R5678 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44886989-44894814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44894706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 28 (I28N)

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: I28N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128723
Gene: ENSMUSG00000079265
AA Change: I28N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,466,529 (GRCm39)	T168A	probably damaging	Het
3425401B19Rik	T	A	14: 32,384,010 (GRCm39)	R652W	probably damaging	Het
A530016L24Rik	T	G	12: 112,463,306 (GRCm39)	C43W	probably damaging	Het
Aatk	T	C	11: 119,900,980 (GRCm39)	T1082A	probably benign	Het
Acsl1	T	A	8: 46,945,887 (GRCm39)	F7I	probably benign	Het
Adgb	T	G	10: 10,307,070 (GRCm39)	S299R	possibly damaging	Het
Apob	T	C	12: 8,041,494 (GRCm39)	F738L	possibly damaging	Het
Art3	T	C	5: 92,540,409 (GRCm39)	Y51H	probably damaging	Het
Atr	C	T	9: 95,833,540 (GRCm39)	Q2597*	probably null	Het
Atrn	T	C	2: 130,811,936 (GRCm39)	V627A	probably damaging	Het
Baz1a	T	C	12: 54,947,317 (GRCm39)	K1111E	probably damaging	Het
Ccdc40	T	C	11: 119,122,398 (GRCm39)	S67P	possibly damaging	Het
Cd164	T	C	10: 41,395,948 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,234,154 (GRCm39)	D2214G	probably damaging	Het
Clcn1	A	G	6: 42,284,199 (GRCm39)	Y589C	probably damaging	Het
Col1a2	C	T	6: 4,536,239 (GRCm39)	A998V	unknown	Het
Csrnp2	T	C	15: 100,379,685 (GRCm39)	*535W	probably null	Het
Dhrs7	C	T	12: 72,704,106 (GRCm39)	G130D	probably damaging	Het
Dnah3	T	C	7: 119,677,074 (GRCm39)	T477A	probably benign	Het
Dscam	A	G	16: 96,592,100 (GRCm39)	F725S	probably benign	Het
Dstyk	T	C	1: 132,381,029 (GRCm39)	V508A	probably benign	Het
Eif4g3	A	G	4: 137,879,053 (GRCm39)	E595G	probably damaging	Het
Epha6	A	T	16: 59,639,342 (GRCm39)	V844E	probably damaging	Het
Esrp2	G	A	8: 106,858,750 (GRCm39)	A629V	probably damaging	Het
Fndc3b	A	G	3: 27,483,172 (GRCm39)	S1009P	probably benign	Het
Ighv5-9-1	T	C	12: 113,700,207 (GRCm39)	E4G	possibly damaging	Het
Ints3	A	G	3: 90,310,855 (GRCm39)	V455A	probably damaging	Het
Lamtor2	A	G	3: 88,458,101 (GRCm39)		probably benign	Het
Npy1r	T	C	8: 67,156,855 (GRCm39)	C92R	probably damaging	Het
Nup210l	T	C	3: 90,098,266 (GRCm39)	V1406A	probably damaging	Het
Or10g7	T	C	9: 39,905,199 (GRCm39)	V31A	probably benign	Het
Or4a75	A	G	2: 89,447,625 (GRCm39)	F304L	probably benign	Het
Or4c108	A	T	2: 88,803,317 (GRCm39)	L306*	probably null	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Qdpr	T	C	5: 45,604,979 (GRCm39)	E43G	possibly damaging	Het
Rps6ka5	T	C	12: 100,691,135 (GRCm39)	E2G	unknown	Het
Setd2	A	G	9: 110,431,254 (GRCm39)	T5A	probably damaging	Het
Slc66a2	T	C	18: 80,300,249 (GRCm39)	I40T	probably damaging	Het
Srpk2	TCA	T	5: 23,729,604 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,783,397 (GRCm39)		probably null	Het
Tasor	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,151,080 (GRCm39)		probably benign	Het
Tchh	A	T	3: 93,352,933 (GRCm39)	Q791L	unknown	Het
Tmed11	T	C	5: 108,934,031 (GRCm39)	D55G	probably benign	Het
Tnrc18	T	C	5: 142,719,319 (GRCm39)	D1989G	unknown	Het
Utp20	A	T	10: 88,644,979 (GRCm39)	H582Q	probably benign	Het
Utrn	A	G	10: 12,317,762 (GRCm39)	I554T	probably damaging	Het
Zfp1005	A	T	2: 150,110,425 (GRCm39)	R372*	probably null	Het
Zfp119a	T	C	17: 56,175,336 (GRCm39)	E53G	probably benign	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
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
R7868:Gm8257	UTSW	14	44,894,754 (GRCm39)	missense	probably damaging	1.00
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'- TCCCAGAAAAGTAGCTGCAGG -3'
(R):5'- ACTAGAATCTTCTGTGACTTCACC -3'

Sequencing Primer
(F):5'- CCTGGGTCTGTCAAATCAATTATCAG -3'
(R):5'- CCTGTGTTATGGTTACAAAAGCTGC -3'

Posted On

2018-01-08