Mutagenetix > Incidental Mutation

Incidental Mutation 'R8814:4922502D21Rik'

690320

Institutional Source

Beutler Lab

Gene Symbol

4922502D21Rik

Ensembl Gene

ENSMUSG00000047720

Gene Name

RIKEN cDNA 4922502D21 gene

Synonyms

LOC381816

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R8814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129322164-129331796 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 129325604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8C634

Predicted Effect

probably benign
Transcript: ENSMUST00000051283

SMART Domains

Protein: ENSMUSP00000062024
Gene: ENSMUSG00000047720

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brd7	A	G	8: 88,345,154	V361A	probably benign	Het
C6	A	T	15: 4,792,784	Q595L	probably benign	Het
Cacna2d3	T	A	14: 29,097,815	Y532F	probably damaging	Het
Cep85l	A	T	10: 53,348,969	Y175N	probably benign	Het
Clca3a2	G	T	3: 144,797,764	N808K	probably benign	Het
Cpsf4	T	G	5: 145,178,868	S201R	probably benign	Het
Crispld2	A	G	8: 120,015,345	H144R	possibly damaging	Het
Cyp1b1	T	C	17: 79,713,359	E318G	probably benign	Het
Fam109a	G	T	5: 121,853,045	V157L	probably benign	Het
Fer1l4	A	G	2: 156,052,243	F47L	probably benign	Het
Flnb	A	G	14: 7,927,409	D1873G	probably damaging	Het
Gm47995	A	G	1: 151,198,988	M181V	probably benign	Het
Hace1	A	G	10: 45,652,701	Y346C	probably damaging	Het
Hemgn	G	T	4: 46,400,717	Q48K	possibly damaging	Het
Hhip	T	C	8: 80,051,472	D143G	probably damaging	Het
Ift74	C	T	4: 94,662,636	Q342*	probably null	Het
Kng2	A	T	16: 23,004,011	I197N	probably benign	Het
Lcat	G	A	8: 105,941,970	P167S	probably damaging	Het
Lmntd2	G	A	7: 141,210,084	R672W	probably damaging	Het
Mroh2b	G	T	15: 4,941,625	L1037F	possibly damaging	Het
Msh4	A	G	3: 153,872,320	S640P	probably damaging	Het
Mterf1b	T	C	5: 4,197,456	S366P	probably damaging	Het
Nrxn1	A	T	17: 90,630,101	C643S	probably damaging	Het
Olfr1164	T	A	2: 88,092,971	I322F	probably benign	Het
Olfr1496	T	A	19: 13,781,533	I305N	possibly damaging	Het
Olfr485	T	A	7: 108,159,065	K269N	probably benign	Het
Olfr605	A	G	7: 103,442,913	V70A	probably benign	Het
Olfr709-ps1	T	A	7: 106,926,818	I214F	probably damaging	Het
Pask	C	A	1: 93,320,585	R998L	probably benign	Het
Pcdh8	A	G	14: 79,768,897	L742P	probably benign	Het
Psma3	A	G	12: 70,978,806	E32G	probably benign	Het
Samd11	T	C	4: 156,247,884	E500G	probably benign	Het
Scarb1	A	T	5: 125,294,092	D305E	probably benign	Het
Serpinb6b	A	G	13: 32,978,304	H362R	possibly damaging	Het
Siglec1	G	A	2: 131,072,744	T1484M	probably damaging	Het
Slfn8	A	G	11: 83,016,679	V346A	possibly damaging	Het
Slitrk6	G	C	14: 110,749,938	A779G	probably benign	Het
Soga1	C	T	2: 157,030,531	W965*	probably null	Het
Sub1	A	C	15: 11,984,231	V124G	probably damaging	Het
Tbc1d32	A	G	10: 56,196,592	I277T	possibly damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trappc10	A	G	10: 78,202,919	Y780H	probably damaging	Het
Trim28	T	A	7: 13,028,527	N359K	probably damaging	Het
Tspan15	G	A	10: 62,188,056	T281M	probably benign	Het
Uaca	A	G	9: 60,866,398	N396D	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,458	S103P	probably damaging	Het
Vmn2r22	C	G	6: 123,637,830	R267T	probably damaging	Het
Vmn2r7	A	G	3: 64,716,563	I112T	probably benign	Het
Vmn2r70	T	A	7: 85,565,961	I122F	probably benign	Het
Vmn2r79	C	G	7: 87,002,506	T371S	probably benign	Het
Vps8	T	C	16: 21,576,650	L1230P	probably damaging	Het
Zfp26	A	T	9: 20,438,434	V278D	probably benign	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
R8402:4922502D21Rik	UTSW	6	129323044	missense	possibly damaging	0.94
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'- AGGAAGACAGTGTGCAACCC -3'
(R):5'- AGGGCAGTCACTTTTCATGG -3'

Sequencing Primer
(F):5'- TAGAAACAAACACTGGAGCTCG -3'
(R):5'- GCAGTCACTTTTCATGGACTGAG -3'

Posted On

2021-11-25