Mutagenetix > Incidental Mutation

Incidental Mutation 'R8520:4921517D22Rik'

658605

Institutional Source

Beutler Lab

Gene Symbol

4921517D22Rik

Ensembl Gene

ENSMUSG00000049902

Gene Name

RIKEN cDNA 4921517D22 gene

Synonyms

MMRRC Submission

067947-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59835216-59841917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59838423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 136 (F136L)

Ref Sequence

ENSEMBL: ENSMUSP00000061773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061597] [ENSMUST00000225373]

AlphaFold

Q8CET0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061597
AA Change: F136L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000225373

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,644,968 (GRCm39)	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,735,346 (GRCm39)	I151T	possibly damaging	Het
Adam28	C	T	14: 68,879,532 (GRCm39)	G172D	probably damaging	Het
Adcy6	A	G	15: 98,502,041 (GRCm39)	V191A	probably benign	Het
Ankrd52	T	C	10: 128,225,359 (GRCm39)	L911P	probably damaging	Het
C5ar1	A	G	7: 15,982,076 (GRCm39)	S315P	probably damaging	Het
Cubn	A	G	2: 13,313,331 (GRCm39)		probably null	Het
Dlec1	T	C	9: 118,941,277 (GRCm39)	S276P	probably benign	Het
Dnah14	T	A	1: 181,481,203 (GRCm39)	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,712,508 (GRCm39)	G171R	probably damaging	Het
Dusp13b	C	A	14: 21,793,538 (GRCm39)	G208*	probably null	Het
Ebf3	A	C	7: 136,802,853 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,171,270 (GRCm39)		probably null	Het
Fbxo27	A	G	7: 28,392,767 (GRCm39)	D16G	probably benign	Het
G6pc3	A	G	11: 102,083,934 (GRCm39)	S187G	probably benign	Het
Gucy2d	G	A	7: 98,121,513 (GRCm39)	V995I	probably null	Het
Hmcn2	C	A	2: 31,244,726 (GRCm39)	P728T	probably damaging	Het
Il1r2	T	C	1: 40,144,499 (GRCm39)	L62P	probably damaging	Het
Ints7	T	C	1: 191,314,603 (GRCm39)	S63P	probably damaging	Het
Lyset	T	A	12: 102,710,431 (GRCm39)		probably null	Het
Mcf2l	C	A	8: 12,930,089 (GRCm39)	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,590,586 (GRCm39)	I109S	probably benign	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,490,734 (GRCm39)		probably null	Het
Nanog	A	T	6: 122,690,475 (GRCm39)	L268F	possibly damaging	Het
Or12j5	T	A	7: 140,084,315 (GRCm39)	D19V	probably benign	Het
Or14a259	A	T	7: 86,013,471 (GRCm39)	C25S	probably benign	Het
Otud4	T	A	8: 80,385,896 (GRCm39)	N256K	probably damaging	Het
P2rx1	A	T	11: 72,899,779 (GRCm39)	D128V	probably benign	Het
Pappa	G	A	4: 65,254,001 (GRCm39)	V1552I	probably benign	Het
Pax8	A	T	2: 24,333,034 (GRCm39)	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,412,204 (GRCm39)	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,169 (GRCm39)	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,947,911 (GRCm39)	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,450,910 (GRCm39)	N217K	probably benign	Het
Slc2a13	T	A	15: 91,457,105 (GRCm39)	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,526,506 (GRCm39)	M9T	probably benign	Het
Sord	G	A	2: 122,087,423 (GRCm39)	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,890,792 (GRCm39)	Q892*	probably null	Het
Thsd7b	T	A	1: 129,849,157 (GRCm39)	D956E	probably benign	Het
Topbp1	T	A	9: 103,186,176 (GRCm39)		probably null	Het
Tst	T	C	15: 78,289,453 (GRCm39)	E194G	probably damaging	Het
Ttk	T	A	9: 83,739,380 (GRCm39)	S484T	possibly damaging	Het
U2surp	A	G	9: 95,384,607 (GRCm39)	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,388,714 (GRCm39)	A500T	probably benign	Het
Utrn	A	T	10: 12,545,930 (GRCm39)	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,718,615 (GRCm39)	Q656L	probably damaging	Het
Wdr7	A	G	18: 64,120,231 (GRCm39)	N1424S	probably benign	Het
Xkr9	A	G	1: 13,771,603 (GRCm39)	D373G	probably benign	Het
Zfp984	T	A	4: 147,840,668 (GRCm39)	Y61F	probably benign	Het

Other mutations in 4921517D22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:4921517D22Rik	APN	13	59,837,290 (GRCm39)	missense	probably benign	0.00
IGL01516:4921517D22Rik	APN	13	59,838,548 (GRCm39)	missense	probably benign	0.00
PIT4677001:4921517D22Rik	UTSW	13	59,838,305 (GRCm39)	missense	probably benign	0.12
R0395:4921517D22Rik	UTSW	13	59,837,470 (GRCm39)	missense	possibly damaging	0.94
R0579:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R0664:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R0757:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R0758:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R0777:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R0779:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R0814:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R0870:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R0872:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R0873:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1062:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1064:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1149:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1149:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1151:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1152:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1207:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1207:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1285:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1339:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1358:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1359:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1360:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1361:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R1679:4921517D22Rik	UTSW	13	59,839,412 (GRCm39)	frame shift	probably null
R4703:4921517D22Rik	UTSW	13	59,837,342 (GRCm39)	missense	possibly damaging	0.94
R4785:4921517D22Rik	UTSW	13	59,839,406 (GRCm39)	missense	probably benign
R4823:4921517D22Rik	UTSW	13	59,838,718 (GRCm39)	missense	probably damaging	0.99
R5054:4921517D22Rik	UTSW	13	59,837,315 (GRCm39)	missense	probably damaging	0.97
R6144:4921517D22Rik	UTSW	13	59,837,347 (GRCm39)	missense	probably damaging	0.99
R6977:4921517D22Rik	UTSW	13	59,839,394 (GRCm39)	missense	possibly damaging	0.66
R7009:4921517D22Rik	UTSW	13	59,838,624 (GRCm39)	missense	possibly damaging	0.89
R7791:4921517D22Rik	UTSW	13	59,838,508 (GRCm39)	missense	probably benign
R8319:4921517D22Rik	UTSW	13	59,838,486 (GRCm39)	missense	probably benign
R8422:4921517D22Rik	UTSW	13	59,839,443 (GRCm39)	start codon destroyed	probably null	0.01

Predicted Primers

PCR Primer
(F):5'- ATCTGCCTACATTCTCAGTGAGG -3'
(R):5'- TCTGAGACTGTGAGTGGCAATG -3'

Sequencing Primer
(F):5'- ACATTCTCAGTGAGGTTTGTACC -3'
(R):5'- AATGAGCGCCTCCCTGTG -3'

Posted On

2021-01-18