Mutagenetix > Incidental Mutation

Incidental Mutation 'R1194:1700029F12Rik'

100999

Institutional Source

Beutler Lab

Gene Symbol

1700029F12Rik

Ensembl Gene

ENSMUSG00000052075

Gene Name

RIKEN cDNA 1700029F12 gene

Synonyms

MMRRC Submission

039266-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1194 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

97158372-97170870 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97166873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 48 (R48G)

Ref Sequence

ENSEMBL: ENSMUSP00000088938 (fasta)

Gene Model

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

AlphaFold

Q9CRB4

Predicted Effect

unknown
Transcript: ENSMUST00000091377
AA Change: R48G

SMART Domains

Protein: ENSMUSP00000088938
Gene: ENSMUSG00000052075
AA Change: R48G

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: 99.0%
3x: 98.2%
10x: 95.9%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dock4	T	C	12: 40,879,615 (GRCm39)	F1533S	probably damaging	Het
Dsg3	A	G	18: 20,658,277 (GRCm39)	E296G	probably damaging	Het
Ehhadh	T	C	16: 21,580,841 (GRCm39)	K717R	probably benign	Het
Emx2	C	T	19: 59,447,984 (GRCm39)	Q12*	probably null	Het
Fubp1	TA	T	3: 151,937,606 (GRCm39)		probably null	Het
Gtsf1	A	G	15: 103,333,901 (GRCm39)	I25T	probably damaging	Het
Krt78	A	G	15: 101,860,221 (GRCm39)	S232P	probably damaging	Het
Myh4	G	A	11: 67,146,560 (GRCm39)		probably null	Het
Nkapl	A	G	13: 21,652,478 (GRCm39)	L45P	unknown	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or2m13	T	A	16: 19,225,930 (GRCm39)	T280S	possibly damaging	Het
Prkg2	A	G	5: 99,119,785 (GRCm39)	S445P	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slc12a1	G	A	2: 125,026,687 (GRCm39)	V441I	probably benign	Het
Slc7a15	T	A	12: 8,585,772 (GRCm39)	T8S	probably damaging	Het
Spon1	A	G	7: 113,486,031 (GRCm39)	R194G	probably benign	Het
Syne2	T	C	12: 75,981,287 (GRCm39)	Y1531H	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het

Other mutations in 1700029F12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02121:1700029F12Rik	APN	13	97,159,038 (GRCm39)	missense	unknown
R1246:1700029F12Rik	UTSW	13	97,166,803 (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

2014-01-15