Mutagenetix > Incidental Mutation

Incidental Mutation 'R1246:1700029F12Rik'

152160

Institutional Source

Beutler Lab

Gene Symbol

1700029F12Rik

Ensembl Gene

ENSMUSG00000052075

Gene Name

RIKEN cDNA 1700029F12 gene

Synonyms

MMRRC Submission

039313-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97158372-97170870 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97166803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 71 (D71G)

Ref Sequence

ENSEMBL: ENSMUSP00000088938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091377]

AlphaFold

Q9CRB4

Predicted Effect

unknown
Transcript: ENSMUST00000091377
AA Change: D71G

SMART Domains

Protein: ENSMUSP00000088938
Gene: ENSMUSG00000052075
AA Change: D71G

Domain	Start	End	E-Value	Type
low complexity region	86	95	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222360

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Gm11563	T	C	11: 99,549,674 (GRCm39)	T27A	unknown	Het
Gm7361	G	T	5: 26,466,225 (GRCm39)	E196*	probably null	Het
Ltbp1	T	A	17: 75,692,156 (GRCm39)	Y1273*	probably null	Het
Nol8	T	A	13: 49,830,245 (GRCm39)	W1110R	probably damaging	Het
Or52b4	T	A	7: 102,184,149 (GRCm39)	L65H	probably damaging	Het
Or56b2	C	A	7: 104,337,371 (GRCm39)	L50I	possibly damaging	Het
Or8b1	T	C	9: 38,400,086 (GRCm39)	S254P	probably damaging	Het
Pde4d	T	A	13: 110,087,507 (GRCm39)	W625R	probably damaging	Het
Pigg	T	C	5: 108,489,686 (GRCm39)	Y631H	probably damaging	Het
Pik3cd	A	G	4: 149,744,257 (GRCm39)	Y165H	probably damaging	Het
Rap1gap	A	G	4: 137,439,405 (GRCm39)	E114G	possibly damaging	Het
Tubb2b	G	A	13: 34,312,130 (GRCm39)	T221I	possibly damaging	Het
Ythdf2	G	A	4: 131,932,182 (GRCm39)	T326M	probably benign	Het
Zzef1	A	G	11: 72,765,735 (GRCm39)	I1421V	probably benign	Het

Other mutations in 1700029F12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02121:1700029F12Rik	APN	13	97,159,038 (GRCm39)	missense	unknown
R1194:1700029F12Rik	UTSW	13	97,166,873 (GRCm39)	missense	unknown
R9764:1700029F12Rik	UTSW	13	97,166,738 (GRCm39)	missense	unknown
R9792:1700029F12Rik	UTSW	13	97,166,719 (GRCm39)	missense	unknown

Predicted Primers

Posted On

2014-01-29