Mutagenetix > Incidental Mutation

Incidental Mutation 'R0035:3110040N11Rik'

15326

Institutional Source

Beutler Lab

Gene Symbol

3110040N11Rik

Ensembl Gene

ENSMUSG00000025102

Gene Name

RIKEN cDNA 3110040N11 gene

Synonyms

MMRRC Submission

038329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R0035 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

81431930-81439226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81438297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 20 (T20A)

Ref Sequence

ENSEMBL: ENSMUSP00000026092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026092] [ENSMUST00000026093] [ENSMUST00000152620]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026092
AA Change: T20A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026092
Gene: ENSMUSG00000025102
AA Change: T20A

Domain	Start	End	E-Value	Type
DUF167	32	108	3.17e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026093

SMART Domains

Protein: ENSMUSP00000026093
Gene: ENSMUSG00000025103

Domain	Start	End	E-Value	Type
low complexity region	5	45	N/A	INTRINSIC
BTB	75	181	2.73e-22	SMART
BACK	186	294	8.02e-10	SMART
Pfam:PHR	339	487	2.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142557

Predicted Effect

probably benign
Transcript: ENSMUST00000152620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208114

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 75.6%
3x: 61.5%
10x: 31.6%
20x: 15.2%

Validation Efficiency

94% (51/54)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,205,791 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,393,581 (GRCm39)	V1247A	probably benign	Het
Ap4b1	T	C	3: 103,727,980 (GRCm39)		probably benign	Het
Cfap53	A	G	18: 74,433,278 (GRCm39)	E121G	probably damaging	Het
Clec4a3	T	A	6: 122,944,508 (GRCm39)	Y185N	probably damaging	Het
Clic5	A	G	17: 44,586,200 (GRCm39)	T230A	probably damaging	Het
Clspn	G	T	4: 126,458,796 (GRCm39)		probably null	Het
Deup1	T	C	9: 15,511,117 (GRCm39)	R221G	possibly damaging	Het
Dnah8	A	T	17: 30,902,595 (GRCm39)		probably benign	Het
Dnase1l2	A	G	17: 24,660,049 (GRCm39)	V273A	probably damaging	Het
Gm5134	T	A	10: 75,829,698 (GRCm39)	F328Y	probably benign	Het
Il23r	A	G	6: 67,450,772 (GRCm39)		probably benign	Het
Il36b	A	T	2: 24,049,890 (GRCm39)	H167L	probably benign	Het
Ktn1	A	G	14: 47,967,836 (GRCm39)	N1167D	probably benign	Het
Map6	C	T	7: 98,966,815 (GRCm39)	T345I	probably damaging	Het
Mark2	A	T	19: 7,262,017 (GRCm39)		probably benign	Het
Nr1h5	T	A	3: 102,856,889 (GRCm39)	K208*	probably null	Het
Obp2b	T	C	2: 25,628,645 (GRCm39)	L133P	probably damaging	Het
Ptafr	C	A	4: 132,306,864 (GRCm39)	L85I	probably benign	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Rad50	A	G	11: 53,545,854 (GRCm39)		probably benign	Het
Rasef	G	T	4: 73,681,091 (GRCm39)		probably benign	Het
Tbc1d17	T	C	7: 44,490,832 (GRCm39)	N587D	probably benign	Het
Zc3h12c	A	T	9: 52,055,047 (GRCm39)	M235K	probably benign	Het
Zfp619	G	A	7: 39,186,706 (GRCm39)	G912D	probably damaging	Het
Zfp982	A	C	4: 147,597,149 (GRCm39)	K169Q	probably benign	Het

Other mutations in 3110040N11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0035:3110040N11Rik	UTSW	7	81,438,297 (GRCm39)	missense	probably benign
R0352:3110040N11Rik	UTSW	7	81,438,208 (GRCm39)	missense	probably benign	0.36
R8340:3110040N11Rik	UTSW	7	81,435,839 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-17