Mutagenetix > Incidental Mutation

Incidental Mutation 'R8319:4921517D22Rik'

641875

Institutional Source

Beutler Lab

Gene Symbol

4921517D22Rik

Ensembl Gene

ENSMUSG00000049902

Gene Name

RIKEN cDNA 4921517D22 gene

Synonyms

MMRRC Submission

067856-MU

Accession Numbers

Essential gene?

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

Stock #

R8319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59835216-59841917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59838486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 115 (D115E)

Ref Sequence

ENSEMBL: ENSMUSP00000061773 (fasta)

Gene Model

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

AlphaFold

Q8CET0

Predicted Effect

probably benign
Transcript: ENSMUST00000061597
AA Change: D115E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,214,315 (GRCm39)	L197Q	probably damaging	Het
Adamts14	T	G	10: 61,057,706 (GRCm39)	N547T	probably benign	Het
Ampd3	T	A	7: 110,394,982 (GRCm39)	S301R	probably benign	Het
Atg9a	G	A	1: 75,162,342 (GRCm39)	Q523*	probably null	Het
Atl1	A	T	12: 70,002,093 (GRCm39)	T351S	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cacna1c	T	C	6: 118,614,735 (GRCm39)	I1315V		Het
Col12a1	C	T	9: 79,555,979 (GRCm39)	G2013R	probably damaging	Het
Cpne2	A	G	8: 95,280,040 (GRCm39)	D153G	probably benign	Het
Cryzl1	T	C	16: 91,489,251 (GRCm39)	S205G	probably benign	Het
Cux1	C	T	5: 136,594,251 (GRCm39)	A5T	probably benign	Het
Ddx60	T	C	8: 62,395,669 (GRCm39)		probably null	Het
Dnajc13	G	A	9: 104,067,590 (GRCm39)	P1190S	probably benign	Het
Fbxw7	T	A	3: 84,881,859 (GRCm39)	V526E		Het
Fig4	C	A	10: 41,139,097 (GRCm39)	G369C	probably damaging	Het
Gabra1	C	T	11: 42,026,315 (GRCm39)	A326T	probably damaging	Het
Gbe1	G	A	16: 70,284,964 (GRCm39)	G429S	probably benign	Het
Gtf3c5	A	T	2: 28,460,506 (GRCm39)	H364Q	probably benign	Het
Hcfc2	T	A	10: 82,574,201 (GRCm39)	I125N	probably damaging	Het
Hnrnpul1	A	T	7: 25,453,902 (GRCm39)	D53E	probably benign	Het
Ift56	T	A	6: 38,382,880 (GRCm39)	H338Q	probably damaging	Het
Il18	A	T	9: 50,492,818 (GRCm39)	D128V	possibly damaging	Het
Intu	T	A	3: 40,608,202 (GRCm39)	S71R	probably damaging	Het
Klhl6	T	C	16: 19,775,940 (GRCm39)	E206G	possibly damaging	Het
Lcor	T	A	19: 41,571,343 (GRCm39)	S179T	probably damaging	Het
Mcub	A	G	3: 129,727,328 (GRCm39)	F93L	probably damaging	Het
Mdga2	T	C	12: 67,267,803 (GRCm39)	Y5C	unknown	Het
Naip1	C	A	13: 100,565,721 (GRCm39)	V354L	probably benign	Het
Naip5	A	G	13: 100,358,167 (GRCm39)	V1023A	probably benign	Het
Ndufaf1	A	G	2: 119,490,568 (GRCm39)	L166P	probably damaging	Het
Ninl	A	T	2: 150,801,827 (GRCm39)	L147H	probably damaging	Het
Or4c12	A	G	2: 89,774,024 (GRCm39)	V145A	possibly damaging	Het
Or51b17	A	G	7: 103,542,636 (GRCm39)	I102T	probably damaging	Het
Otogl	C	T	10: 107,689,127 (GRCm39)		probably null	Het
Otulin	AT	ATT	15: 27,606,404 (GRCm39)		probably null	Het
Phf11b	A	C	14: 59,576,146 (GRCm39)	L30R	probably damaging	Het
Prdm13	G	T	4: 21,679,327 (GRCm39)	H388N	unknown	Het
Pwwp2b	T	C	7: 138,835,099 (GRCm39)	V180A	probably damaging	Het
Reep4	T	A	14: 70,783,951 (GRCm39)	S23T	probably damaging	Het
Rusc2	T	A	4: 43,425,378 (GRCm39)	L1161Q	probably damaging	Het
Scgb1b3	G	A	7: 31,075,404 (GRCm39)		probably null	Het
Scn10a	G	T	9: 119,499,455 (GRCm39)	N279K	probably benign	Het
Smurf2	A	G	11: 106,715,578 (GRCm39)	L643S	probably damaging	Het
Sox12	G	A	2: 152,239,192 (GRCm39)	P143S	unknown	Het
Specc1	C	T	11: 62,009,501 (GRCm39)	T339I	possibly damaging	Het
Tas2r139	T	C	6: 42,118,720 (GRCm39)	V284A	probably benign	Het
Thumpd3	T	A	6: 113,040,107 (GRCm39)	C330*	probably null	Het
Ttn	A	G	2: 76,537,298 (GRCm39)	S34877P	possibly damaging	Het
Zfp568	T	C	7: 29,697,629 (GRCm39)	S104P	possibly damaging	Het
Zfp933	G	A	4: 147,912,910 (GRCm39)	H50Y	possibly damaging	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
R8422:4921517D22Rik	UTSW	13	59,839,443 (GRCm39)	start codon destroyed	probably null	0.01
R8520:4921517D22Rik	UTSW	13	59,838,423 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ACCTGGTTCTGAGGAGACATG -3'
(R):5'- AGACCCTTGAGAAAACCCTGAATG -3'

Sequencing Primer
(F):5'- CTGAGGAGACATGGCTTACTG -3'
(R):5'- CTGAATGTCTCACCATTGGACAG -3'

Posted On

2020-07-28