Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4576001:4930544G11Rik'

556372

Institutional Source

Beutler Lab

Gene Symbol

4930544G11Rik

Ensembl Gene

ENSMUSG00000036463

Gene Name

RIKEN cDNA 4930544G11 gene

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.775) question?

Stock #

PIT4576001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65929593-65930998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65929983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 73 (S73P)

Ref Sequence

ENSEMBL: ENSMUSP00000045487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043382]

AlphaFold

Q9CR99

Predicted Effect

probably damaging
Transcript: ENSMUST00000043382
AA Change: S73P

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

SMART Domains

Protein: ENSMUSP00000045487
Gene: ENSMUSG00000036463
AA Change: S73P

Domain	Start	End	E-Value	Type
RHO	8	181	5.39e-125	SMART

Coding Region Coverage

1x: 93.1%
3x: 90.8%
10x: 85.3%
20x: 72.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	G	T	6: 52,156,449 (GRCm39)	V172F	unknown	Het
Brms1	A	G	19: 5,096,229 (GRCm39)	K69E	probably damaging	Het
Calr4	A	C	4: 109,093,053 (GRCm39)	Q44H	possibly damaging	Het
Dnmt1	G	A	9: 20,823,071 (GRCm39)	T1242I	probably benign	Het
Dyrk3	A	G	1: 131,057,918 (GRCm39)	V85A	probably damaging	Het
Eif2a	T	C	3: 58,452,974 (GRCm39)	Y250H	probably damaging	Het
Esco1	T	C	18: 10,572,093 (GRCm39)	E749G	probably damaging	Het
Fat1	A	G	8: 45,477,682 (GRCm39)	I2243V	probably damaging	Het
Gh	A	T	11: 106,191,659 (GRCm39)	F128I	possibly damaging	Het
Gm17669	TAA	TAAA	18: 67,695,819 (GRCm39)		probably null	Het
Gtpbp4	A	G	13: 9,041,763 (GRCm39)	Y150H	probably damaging	Het
H2ac15	C	A	13: 21,937,781 (GRCm39)	D73Y	probably damaging	Het
Itga8	A	G	2: 12,234,903 (GRCm39)	S452P	probably benign	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,367,114 (GRCm39)	E2549G	probably benign	Het
Mindy1	C	T	3: 95,195,380 (GRCm39)	A41V	probably benign	Het
Mypn	T	A	10: 62,955,850 (GRCm39)	K1201M	probably damaging	Het
Ncor1	A	G	11: 62,224,543 (GRCm39)	S906P	probably damaging	Het
Npy1r	T	C	8: 67,156,874 (GRCm39)	V98A	probably benign	Het
Pate2	A	G	9: 35,581,889 (GRCm39)	Y61C	probably damaging	Het
Pfdn2	A	G	1: 171,173,310 (GRCm39)	S11G	unknown	Het
Prdm1	T	C	10: 44,334,504 (GRCm39)	M1V	probably null	Het
Prelp	A	G	1: 133,842,903 (GRCm39)	S81P	possibly damaging	Het
Prss12	T	C	3: 123,280,764 (GRCm39)	V483A	probably damaging	Het
Prss43	G	C	9: 110,656,955 (GRCm39)	V154L	probably damaging	Het
Ptpru	G	A	4: 131,529,855 (GRCm39)	R618*	probably null	Het
Rpa1	A	G	11: 75,203,984 (GRCm39)	S288P	probably damaging	Het
Semp2l1	T	C	1: 32,585,553 (GRCm39)	E119G	probably damaging	Het
Siglec1	A	G	2: 130,920,081 (GRCm39)	F817L	probably damaging	Het
Skint6	T	A	4: 112,910,564 (GRCm39)	S545C	possibly damaging	Het
Slit1	A	T	19: 41,612,988 (GRCm39)	V844D	possibly damaging	Het
Suclg2	G	T	6: 95,563,999 (GRCm39)	D195E	possibly damaging	Het
Tln1	G	T	4: 43,539,998 (GRCm39)	A1537D	probably damaging	Het
Trpv2	A	G	11: 62,472,027 (GRCm39)	D73G	probably damaging	Het
Ucp3	T	C	7: 100,129,458 (GRCm39)	S98P	probably benign	Het
Usp19	T	A	9: 108,369,931 (GRCm39)		probably null	Het
Vmn2r112	T	C	17: 22,833,912 (GRCm39)	F527L	probably benign	Het
Vmn2r93	T	C	17: 18,533,473 (GRCm39)	V459A	probably benign	Het

Other mutations in 4930544G11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00698:4930544G11Rik	APN	6	65,929,879 (GRCm39)	missense	probably damaging	1.00
IGL01071:4930544G11Rik	APN	6	65,930,137 (GRCm39)	missense	probably damaging	1.00
IGL02528:4930544G11Rik	APN	6	65,930,357 (GRCm39)	utr 3 prime	probably benign
IGL02655:4930544G11Rik	APN	6	65,930,074 (GRCm39)	missense	probably damaging	1.00
IGL02692:4930544G11Rik	APN	6	65,929,792 (GRCm39)	missense	probably damaging	1.00
R2407:4930544G11Rik	UTSW	6	65,930,212 (GRCm39)	missense	probably benign	0.06
R7070:4930544G11Rik	UTSW	6	65,930,232 (GRCm39)	missense	probably damaging	0.98
R7203:4930544G11Rik	UTSW	6	65,930,317 (GRCm39)	missense	probably benign
R7910:4930544G11Rik	UTSW	6	65,930,289 (GRCm39)	missense	probably benign	0.01
R8462:4930544G11Rik	UTSW	6	65,930,074 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- ATCCGGAAGAAACTGGTGATC -3'
(R):5'- CTTGTTCAGGTCTCACAGGC -3'

Sequencing Primer
(F):5'- AACTGGTGATCGTGGGAGATG -3'
(R):5'- TTCAGGTCTCACAGGCGCTTG -3'

Posted On

2019-06-07