Mutagenetix > Incidental Mutation

Incidental Mutation 'R8402:4922502D21Rik'

652230

Institutional Source

Beutler Lab

Gene Symbol

4922502D21Rik

Ensembl Gene

ENSMUSG00000047720

Gene Name

RIKEN cDNA 4922502D21 gene

Synonyms

LOC381816

MMRRC Submission

067878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8402 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129322164-129331796 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129323044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 157 (D157V)

Ref Sequence

ENSEMBL: ENSMUSP00000062024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051283]

AlphaFold

Q8C634

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051283
AA Change: D157V

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062024
Gene: ENSMUSG00000047720
AA Change: D157V

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
CLECT	71	183	1.32e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203159

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,263,290	K579N	probably damaging	Het
Adcy7	T	C	8: 88,308,735	V89A	probably benign	Het
Anapc1	G	A	2: 128,630,228	S1458L	probably benign	Het
AW551984	T	C	9: 39,597,653	Y325C	probably damaging	Het
Btnl4	T	C	17: 34,469,493	Y437C	probably damaging	Het
Ccdc88a	T	A	11: 29,463,879	S806T	probably damaging	Het
Ddit4l	A	G	3: 137,626,127	T85A	probably damaging	Het
Dmxl1	G	A	18: 49,878,326	W1183*	probably null	Het
Dmxl1	G	C	18: 49,878,327	D1184H	probably benign	Het
Dmxl1	G	T	18: 49,878,342	V1189L	probably benign	Het
Evpl	T	C	11: 116,225,371	D820G	probably benign	Het
Fam76b	T	C	9: 13,839,676	S289P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Gabrb2	T	C	11: 42,487,304	W116R	probably damaging	Het
Galnt7	G	A	8: 57,542,919	A355V	probably damaging	Het
Klk1b5	T	G	7: 44,218,538	F45V	probably benign	Het
Nav2	T	C	7: 49,453,437	V661A	probably benign	Het
Nfkbiz	T	C	16: 55,816,387	N517S	probably damaging	Het
Olfr1330	A	G	4: 118,893,519	I145M	probably benign	Het
Olfr975	T	A	9: 39,950,417	Y118F	probably benign	Het
P2rx1	T	C	11: 73,013,889	F368L	probably damaging	Het
Palld	A	T	8: 61,711,406	V417E	probably damaging	Het
Robo1	C	A	16: 73,024,497	A1375E	probably benign	Het
Rps24	G	T	14: 24,490,761		probably benign	Het
Serpind1	A	G	16: 17,337,085	N259D	probably benign	Het
Sh3bp4	C	A	1: 89,145,315	N628K	probably benign	Het
Tada3	A	T	6: 113,374,813	L177Q	probably damaging	Het
Tcam1	T	A	11: 106,286,905	L508Q	probably damaging	Het
Thbs1	T	C	2: 118,115,878	S360P	possibly damaging	Het
Tmem33	T	C	5: 67,267,375		probably benign	Het
Vmn2r3	A	G	3: 64,271,196		probably benign	Het
Vwa3b	A	G	1: 37,165,798	E121G	probably damaging	Het
Zfp607b	T	A	7: 27,702,702	H194Q	probably damaging	Het
Zfp729b	G	A	13: 67,592,577	P523L	probably damaging	Het

Other mutations in 4922502D21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02053:4922502D21Rik	APN	6	129326762	missense	probably benign	0.00
IGL02298:4922502D21Rik	APN	6	129331564	start codon destroyed	probably benign	0.09
IGL03350:4922502D21Rik	APN	6	129331023	missense	probably benign	0.07
R0178:4922502D21Rik	UTSW	6	129326823	missense	probably benign	0.01
R0270:4922502D21Rik	UTSW	6	129325608	nonsense	probably null
R0414:4922502D21Rik	UTSW	6	129326850	unclassified	probably benign
R0648:4922502D21Rik	UTSW	6	129330969	missense	probably benign	0.03
R1065:4922502D21Rik	UTSW	6	129323050	missense	possibly damaging	0.83
R2075:4922502D21Rik	UTSW	6	129326703	missense	probably benign	0.01
R6163:4922502D21Rik	UTSW	6	129326747	missense	probably benign	0.00
R7092:4922502D21Rik	UTSW	6	129323000	missense	probably benign	0.12
R7107:4922502D21Rik	UTSW	6	129322952	missense	probably damaging	1.00
R7360:4922502D21Rik	UTSW	6	129326747	missense	probably benign	0.00
R7369:4922502D21Rik	UTSW	6	129331533	missense	possibly damaging	0.68
R7414:4922502D21Rik	UTSW	6	129325633	missense	probably benign	0.17
R7937:4922502D21Rik	UTSW	6	129331011	missense	possibly damaging	0.84
R8345:4922502D21Rik	UTSW	6	129325630	missense	probably damaging	1.00
R8814:4922502D21Rik	UTSW	6	129325604	intron	probably benign
R8862:4922502D21Rik	UTSW	6	129331531	missense	probably benign	0.00
X0026:4922502D21Rik	UTSW	6	129326693	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTCGATGGAAAGGAATACACATCAC -3'
(R):5'- TAGGAGCATAGAGTCCCAGG -3'

Sequencing Primer
(F):5'- CAGACAAAACGAGACACTGCTCTTC -3'
(R):5'- CCAGGCCATGCTGCTTTTTAGAG -3'

Posted On

2020-10-20