Mutagenetix > Incidental Mutation

Incidental Mutation 'R6977:4921517D22Rik'

542524

Institutional Source

Beutler Lab

Gene Symbol

4921517D22Rik

Ensembl Gene

ENSMUSG00000049902

Gene Name

RIKEN cDNA 4921517D22 gene

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R6977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59835216-59841917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59839394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 17 (S17L)

Ref Sequence

ENSEMBL: ENSMUSP00000153380 (fasta)

Gene Model

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

AlphaFold

Q8CET0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061597
AA Change: S17L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225373
AA Change: S17L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	G	T	16: 30,936,079 (GRCm39)	T336K	probably damaging	Het
Angptl7	A	T	4: 148,581,850 (GRCm39)	W179R	probably damaging	Het
Atp9b	A	G	18: 80,796,317 (GRCm39)	F909L	probably damaging	Het
BC051665	A	T	13: 60,932,486 (GRCm39)	Y66*	probably null	Het
C8b	A	G	4: 104,644,193 (GRCm39)	T287A	possibly damaging	Het
Camk2a	G	A	18: 61,093,076 (GRCm39)	G301E	probably damaging	Het
Ccdc186	A	G	19: 56,787,219 (GRCm39)	M583T	probably benign	Het
Cd55b	T	A	1: 130,347,528 (GRCm39)	K94N	probably damaging	Het
Celsr3	T	C	9: 108,704,914 (GRCm39)	S466P	probably benign	Het
Cep152	A	G	2: 125,410,742 (GRCm39)		probably null	Het
Cep70	A	G	9: 99,173,729 (GRCm39)	D420G	probably damaging	Het
Cnih4	T	C	1: 180,989,713 (GRCm39)	S48P	possibly damaging	Het
Cpne8	T	C	15: 90,381,294 (GRCm39)	K507E	probably benign	Het
Cyp2b23	T	C	7: 26,380,745 (GRCm39)	Y160C	possibly damaging	Het
Dnah9	C	A	11: 65,998,735 (GRCm39)	M1104I	probably benign	Het
Fam135a	T	A	1: 24,093,179 (GRCm39)	N149I	probably damaging	Het
Fbxl4	A	T	4: 22,376,930 (GRCm39)	Q122L	probably benign	Het
Gm11232	T	C	4: 71,676,178 (GRCm39)		probably benign	Het
Gm5901	A	G	7: 105,026,367 (GRCm39)	Y45C	probably benign	Het
Gsap	A	T	5: 21,476,219 (GRCm39)	I553F	probably damaging	Het
Ifih1	A	G	2: 62,436,530 (GRCm39)	F631S	probably damaging	Het
Kics2	A	G	10: 121,581,371 (GRCm39)	H124R	probably damaging	Het
Kif21a	T	C	15: 90,865,040 (GRCm39)	D544G	probably damaging	Het
Klc2	G	A	19: 5,159,393 (GRCm39)	R552C	probably damaging	Het
Lamp1	T	C	8: 13,223,661 (GRCm39)	V293A	probably damaging	Het
Muc16	T	A	9: 18,556,633 (GRCm39)	D3220V	unknown	Het
Myb	A	T	10: 21,028,551 (GRCm39)	I104K	probably damaging	Het
Mycbp2	C	A	14: 103,392,342 (GRCm39)	R3227L	probably damaging	Het
Ncapd2	A	T	6: 125,148,472 (GRCm39)	L1053Q	probably damaging	Het
Nelfe	T	A	17: 35,073,688 (GRCm39)	V316E	probably damaging	Het
Noxred1	T	C	12: 87,268,091 (GRCm39)	I347V	probably null	Het
Or8g50	A	G	9: 39,648,330 (GRCm39)	Y73C	probably benign	Het
Plekha7	A	G	7: 115,735,202 (GRCm39)	V1033A	probably benign	Het
Plekhh1	G	C	12: 79,112,491 (GRCm39)	W589C	probably damaging	Het
Ppp6r3	A	T	19: 3,517,272 (GRCm39)	F658L	probably damaging	Het
Prss55	A	G	14: 64,316,785 (GRCm39)	M119T	probably damaging	Het
Rab28	G	A	5: 41,855,735 (GRCm39)	Q87*	probably null	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sdr16c6	A	T	4: 4,076,865 (GRCm39)	F11L	probably benign	Het
Serpinb5	T	G	1: 106,800,077 (GRCm39)	V89G	probably benign	Het
Slc12a9	A	T	5: 137,314,075 (GRCm39)	V628E	probably damaging	Het
Slc25a34	G	A	4: 141,347,809 (GRCm39)	R291C	probably damaging	Het
Slmap	C	T	14: 26,254,574 (GRCm39)	R36H	probably damaging	Het
Sybu	A	G	15: 44,541,091 (GRCm39)	S324P	probably benign	Het
Syk	A	T	13: 52,787,094 (GRCm39)	M363L	probably benign	Het
Tecpr2	T	C	12: 110,906,200 (GRCm39)	V934A	probably benign	Het
Thpo	A	G	16: 20,544,433 (GRCm39)	L200P	probably damaging	Het
Tiam2	T	A	17: 3,568,934 (GRCm39)	S1693R	probably damaging	Het
Usp48	A	G	4: 137,377,671 (GRCm39)	D232G	probably damaging	Het
Wasf1	A	G	10: 40,802,581 (GRCm39)	S79G	probably damaging	Het
Zfp90	G	T	8: 107,151,948 (GRCm39)	D554Y	probably damaging	Het
Zfp90	A	T	8: 107,151,949 (GRCm39)	D554V	probably damaging	Het
Zic5	T	C	14: 122,696,960 (GRCm39)	T552A	unknown	Het
Zic5	CGACGAGTAG	C	14: 122,696,967 (GRCm39)		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
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
R8520:4921517D22Rik	UTSW	13	59,838,423 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CATCCTTTAAGGCCATTGCTAAAG -3'
(R):5'- TAAGCGACAGACACTGCAGC -3'

Sequencing Primer
(F):5'- CACTGGCTGCTCTTAACAGAAGG -3'
(R):5'- ACTGCAGCACAACTTCTCCTG -3'

Posted On

2018-11-28