Mutagenetix > Incidental Mutation

Incidental Mutation 'R8776:4930568D16Rik'

664686

Institutional Source

Beutler Lab

Gene Symbol

4930568D16Rik

Ensembl Gene

ENSMUSG00000026882

Gene Name

RIKEN cDNA 4930568D16 gene

Synonyms

MMRRC Submission

068629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8776 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35244230-35257741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35245002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 117 (Y117H)

Ref Sequence

ENSEMBL: ENSMUSP00000028243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028243]

AlphaFold

A2AUQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000028243
AA Change: Y117H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000028243
Gene: ENSMUSG00000026882
AA Change: Y117H

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	11	319	1.3e-101	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 154,892,612 (GRCm39)	D97G	probably damaging	Het
Cdca7l	T	C	12: 117,836,098 (GRCm39)	S190P	probably damaging	Het
Chst9	T	A	18: 15,586,086 (GRCm39)	Y159F	possibly damaging	Het
Col26a1	G	A	5: 136,911,708 (GRCm39)	R52C	probably damaging	Het
Dchs2	A	T	3: 83,263,701 (GRCm39)	D3323V	possibly damaging	Het
Dennd11	T	C	6: 40,395,775 (GRCm39)		probably benign	Het
Dqx1	T	A	6: 83,035,619 (GRCm39)	I44N	probably damaging	Het
Edc4	A	G	8: 106,613,992 (GRCm39)	D415G	probably damaging	Het
Enpp3	T	A	10: 24,650,733 (GRCm39)	D801V	probably damaging	Het
Fam13b	G	A	18: 34,584,446 (GRCm39)	R573C	probably damaging	Het
Fgfr2	A	T	7: 129,798,002 (GRCm39)	I415N	possibly damaging	Het
Gm32742	T	A	9: 51,067,230 (GRCm39)	M366L	probably benign	Het
Gm49336	A	T	14: 60,457,515 (GRCm39)	S563T	possibly damaging	Het
Gm5475	T	C	15: 100,324,892 (GRCm39)	F107L	unknown	Het
Lamp3	T	C	16: 19,474,252 (GRCm39)	D374G	probably damaging	Het
Lin9	T	C	1: 180,496,450 (GRCm39)		probably null	Het
Mef2d	T	C	3: 88,074,956 (GRCm39)	S381P	probably benign	Het
Mfsd9	A	G	1: 40,812,915 (GRCm39)	*467Q	probably null	Het
Mpo	A	G	11: 87,693,538 (GRCm39)	I639V	possibly damaging	Het
Mrgprh	T	C	17: 13,096,375 (GRCm39)	I205T	probably benign	Het
Ncapd2	T	C	6: 125,154,476 (GRCm39)	D580G	probably benign	Het
Nkain4	T	A	2: 180,585,920 (GRCm39)	I48F	probably damaging	Het
Notch4	C	A	17: 34,806,579 (GRCm39)	R1839S	probably damaging	Het
Nr6a1	A	G	2: 38,650,244 (GRCm39)	Y129H	probably damaging	Het
Nras	T	C	3: 102,966,176 (GRCm39)		probably benign	Het
Or7g19	T	A	9: 18,856,286 (GRCm39)	I114N	possibly damaging	Het
Robo1	G	T	16: 72,821,141 (GRCm39)	E1294*	probably null	Het
Septin8	A	G	11: 53,428,343 (GRCm39)	K331R	probably benign	Het
Shmt2	A	G	10: 127,356,785 (GRCm39)		probably null	Het
Skint6	A	C	4: 112,661,885 (GRCm39)	L1233R	possibly damaging	Het
Slc41a3	A	T	6: 90,621,165 (GRCm39)	T402S	probably benign	Het
Slc9a2	A	G	1: 40,781,889 (GRCm39)	T373A	probably damaging	Het
Spata31d1b	T	C	13: 59,863,283 (GRCm39)	C144R	probably benign	Het
Syne1	A	G	10: 5,181,783 (GRCm39)	V4184A	possibly damaging	Het
Tenm4	G	A	7: 96,544,239 (GRCm39)	R2122H	probably damaging	Het
Tlnrd1	A	T	7: 83,532,316 (GRCm39)	D38E	probably benign	Het
Tnnc2	C	T	2: 164,620,135 (GRCm39)	A6T	probably benign	Het
Usp9y	A	G	Y: 1,356,320 (GRCm39)	V1127A	probably benign	Het
Ylpm1	T	C	12: 85,077,195 (GRCm39)	Y1307H	probably damaging	Het
Zfp266	T	C	9: 20,411,509 (GRCm39)	S223G	probably benign	Het

Other mutations in 4930568D16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:4930568D16Rik	APN	2	35,245,640 (GRCm39)	missense	probably benign	0.36
IGL01701:4930568D16Rik	APN	2	35,254,776 (GRCm39)	missense	possibly damaging	0.95
IGL02049:4930568D16Rik	APN	2	35,254,801 (GRCm39)	missense	probably benign	0.03
R0112:4930568D16Rik	UTSW	2	35,244,815 (GRCm39)	missense	probably benign	0.06
R1778:4930568D16Rik	UTSW	2	35,244,995 (GRCm39)	missense	probably damaging	1.00
R2398:4930568D16Rik	UTSW	2	35,244,872 (GRCm39)	missense	possibly damaging	0.86
R3846:4930568D16Rik	UTSW	2	35,244,570 (GRCm39)	missense	probably damaging	1.00
R4648:4930568D16Rik	UTSW	2	35,244,458 (GRCm39)	missense	probably damaging	1.00
R5239:4930568D16Rik	UTSW	2	35,244,848 (GRCm39)	missense	probably benign	0.38
R5418:4930568D16Rik	UTSW	2	35,244,738 (GRCm39)	missense	probably damaging	1.00
R5889:4930568D16Rik	UTSW	2	35,244,461 (GRCm39)	missense	probably damaging	1.00
R5951:4930568D16Rik	UTSW	2	35,244,811 (GRCm39)	missense	probably damaging	1.00
R6014:4930568D16Rik	UTSW	2	35,244,881 (GRCm39)	missense	probably benign	0.00
R6091:4930568D16Rik	UTSW	2	35,252,348 (GRCm39)	missense	possibly damaging	0.77
R7363:4930568D16Rik	UTSW	2	35,244,782 (GRCm39)	missense	probably damaging	1.00
R7773:4930568D16Rik	UTSW	2	35,244,606 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:4930568D16Rik	UTSW	2	35,245,002 (GRCm39)	missense	probably benign	0.01
R9108:4930568D16Rik	UTSW	2	35,244,942 (GRCm39)	missense	probably damaging	1.00
R9367:4930568D16Rik	UTSW	2	35,244,939 (GRCm39)	missense	probably benign	0.03
R9566:4930568D16Rik	UTSW	2	35,244,645 (GRCm39)	nonsense	probably null
R9673:4930568D16Rik	UTSW	2	35,244,399 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGTTCACAGCCATCATGAAGAG -3'
(R):5'- ACCAATACAGCTGAAGGTACAG -3'

Sequencing Primer
(F):5'- GCCATCATGAAGAGAAAGTTGACTTC -3'
(R):5'- AGACCCAGCCAGGCTATCTTTATC -3'

Posted On

2021-03-08