Mutagenetix > Incidental Mutation

Incidental Mutation 'R9521:4833420G17Rik'

718905

Institutional Source

Beutler Lab

Gene Symbol

4833420G17Rik

Ensembl Gene

ENSMUSG00000062822

Gene Name

RIKEN cDNA 4833420G17 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9521 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119599304-119622656 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 119608778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026519] [ENSMUST00000224081] [ENSMUST00000224312] [ENSMUST00000225186] [ENSMUST00000225726]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000026519

SMART Domains

Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822

Domain	Start	End	E-Value	Type
Pfam:DUF4524	9	154	5e-61	PFAM
Pfam:DUF4520	451	542	8.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224081

Predicted Effect

probably benign
Transcript: ENSMUST00000224312

Predicted Effect

probably benign
Transcript: ENSMUST00000225186

Predicted Effect

probably benign
Transcript: ENSMUST00000225726

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005K14Rik	C	A	1: 83,036,980 (GRCm39)	G17V	unknown	Het
Afap1l1	C	T	18: 61,879,863 (GRCm39)	A336T	probably benign	Het
Akap8	C	T	17: 32,530,036 (GRCm39)	R395H	possibly damaging	Het
Ankrd26	G	A	6: 118,517,420 (GRCm39)	A467V	possibly damaging	Het
Ano9	A	T	7: 140,682,227 (GRCm39)	S683T	probably benign	Het
Aox3	C	A	1: 58,164,222 (GRCm39)	A164E	probably benign	Het
Apc	T	C	18: 34,445,738 (GRCm39)	I878T	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Atg9b	T	C	5: 24,593,107 (GRCm39)	N432S	probably benign	Het
Atp1b3	A	G	9: 96,227,911 (GRCm39)	F49L	probably damaging	Het
Cacnb2	A	T	2: 14,609,138 (GRCm39)		probably benign	Het
Ccdc180	T	A	4: 45,916,283 (GRCm39)	L828Q	probably null	Het
Chd3	C	T	11: 69,249,133 (GRCm39)	R748Q	probably benign	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cldn18	T	A	9: 99,581,028 (GRCm39)		probably null	Het
Cmklr1	C	T	5: 113,752,480 (GRCm39)	V174I	probably benign	Het
Cyp2d22	A	T	15: 82,256,688 (GRCm39)	V362D	probably damaging	Het
Dock10	T	C	1: 80,501,763 (GRCm39)	K1810R	probably damaging	Het
Duox1	T	A	2: 122,159,216 (GRCm39)	V661E	possibly damaging	Het
Ercc2	G	A	7: 19,125,899 (GRCm39)	R518Q	probably damaging	Het
Fam186a	A	G	15: 99,841,471 (GRCm39)	L1591P	probably damaging	Het
Fam186b	G	T	15: 99,178,419 (GRCm39)	D302E	probably benign	Het
Fap	T	C	2: 62,372,500 (GRCm39)	D326G	probably benign	Het
Gm42669	T	A	5: 107,655,892 (GRCm39)	D135E		Het
Keap1	A	T	9: 21,143,136 (GRCm39)	V463E	probably damaging	Het
Mga	T	C	2: 119,794,979 (GRCm39)	S2888P	probably damaging	Het
Mgam	A	G	6: 40,722,118 (GRCm39)	D403G	probably damaging	Het
Mios	C	T	6: 8,233,171 (GRCm39)	T773I	probably benign	Het
Nav3	T	C	10: 109,835,845 (GRCm39)	D79G	possibly damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or52d3	A	G	7: 104,228,855 (GRCm39)	M1V	probably null	Het
Or8k35	C	A	2: 86,424,771 (GRCm39)	V134F		Het
Orc6	T	C	8: 86,026,615 (GRCm39)	V20A	possibly damaging	Het
Peli2	A	G	14: 48,490,052 (GRCm39)	K175E	probably benign	Het
Plec	C	G	15: 76,062,924 (GRCm39)	R2382P	possibly damaging	Het
Ppp1r12b	T	A	1: 134,705,063 (GRCm39)	D875V	probably damaging	Het
Pramel6	T	A	2: 87,340,629 (GRCm39)	C320*	probably null	Het
Qrich2	A	T	11: 116,339,208 (GRCm39)	M26K	probably damaging	Het
Rapgef1	A	G	2: 29,624,291 (GRCm39)	I1006V	probably benign	Het
Rasgrp3	T	A	17: 75,821,158 (GRCm39)	L455Q	probably null	Het
Scaf8	C	T	17: 3,248,285 (GRCm39)	R1203W	probably damaging	Het
Senp6	C	T	9: 79,974,687 (GRCm39)		probably benign	Het
Senp7	A	G	16: 55,992,144 (GRCm39)	Y700C	probably damaging	Het
Siglec1	A	G	2: 130,915,246 (GRCm39)		probably null	Het
Slc12a7	G	A	13: 73,947,087 (GRCm39)	V592I	probably benign	Het
Slfn3	T	C	11: 83,103,825 (GRCm39)	V232A	probably benign	Het
Tdp1	T	C	12: 99,877,906 (GRCm39)	V396A	probably damaging	Het
Ticam1	T	C	17: 56,578,388 (GRCm39)	T236A	probably benign	Het
Tob1	AGCAGCAGCAGCAGCAGCAGCCGTCATCATCCCAGCCGCCGCCTCCACTACCGCAGCAGCAGCAGCAGCAGCC	AGCAGCAGCAGCAGCAGCAGCC	11: 94,105,205 (GRCm39)		probably benign	Het
Ttc21a	C	A	9: 119,787,181 (GRCm39)	D729E	probably damaging	Het
Ubtd2	T	C	11: 32,449,432 (GRCm39)	I93T	possibly damaging	Het
Unc45b	A	G	11: 82,808,586 (GRCm39)	D224G	probably benign	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r61	A	G	7: 41,916,626 (GRCm39)	E413G	probably damaging	Het
Zfp423	A	T	8: 88,509,033 (GRCm39)	L437Q	probably damaging	Het
Zfp810	A	G	9: 22,190,227 (GRCm39)	V227A	possibly damaging	Het

Other mutations in 4833420G17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:4833420G17Rik	APN	13	119,603,494 (GRCm39)	critical splice donor site	probably null
IGL01555:4833420G17Rik	APN	13	119,610,443 (GRCm39)	missense	probably benign	0.10
IGL02395:4833420G17Rik	APN	13	119,617,496 (GRCm39)	missense	probably damaging	1.00
IGL02725:4833420G17Rik	APN	13	119,611,445 (GRCm39)	missense	possibly damaging	0.95
IGL02904:4833420G17Rik	APN	13	119,620,990 (GRCm39)	missense	probably damaging	1.00
IGL03126:4833420G17Rik	APN	13	119,617,563 (GRCm39)	missense	probably benign	0.23
R0410:4833420G17Rik	UTSW	13	119,606,268 (GRCm39)	missense	probably benign
R0437:4833420G17Rik	UTSW	13	119,606,631 (GRCm39)	missense	probably benign	0.35
R0513:4833420G17Rik	UTSW	13	119,606,195 (GRCm39)	missense	probably benign	0.13
R0569:4833420G17Rik	UTSW	13	119,621,016 (GRCm39)	missense	possibly damaging	0.94
R0788:4833420G17Rik	UTSW	13	119,610,468 (GRCm39)	nonsense	probably null
R1495:4833420G17Rik	UTSW	13	119,614,356 (GRCm39)	missense	probably benign	0.17
R1617:4833420G17Rik	UTSW	13	119,603,473 (GRCm39)	missense	probably damaging	1.00
R1905:4833420G17Rik	UTSW	13	119,606,216 (GRCm39)	missense	possibly damaging	0.92
R1914:4833420G17Rik	UTSW	13	119,622,386 (GRCm39)	missense	possibly damaging	0.90
R2169:4833420G17Rik	UTSW	13	119,622,349 (GRCm39)	missense	probably benign	0.09
R4238:4833420G17Rik	UTSW	13	119,603,478 (GRCm39)	missense	probably benign	0.00
R4240:4833420G17Rik	UTSW	13	119,603,478 (GRCm39)	missense	probably benign	0.00
R4295:4833420G17Rik	UTSW	13	119,606,249 (GRCm39)	missense	probably benign	0.02
R4469:4833420G17Rik	UTSW	13	119,606,345 (GRCm39)	missense	probably damaging	1.00
R4643:4833420G17Rik	UTSW	13	119,611,396 (GRCm39)	missense	probably damaging	0.97
R4964:4833420G17Rik	UTSW	13	119,610,757 (GRCm39)	intron	probably benign
R4966:4833420G17Rik	UTSW	13	119,610,757 (GRCm39)	intron	probably benign
R5093:4833420G17Rik	UTSW	13	119,610,573 (GRCm39)	utr 3 prime	probably benign
R5384:4833420G17Rik	UTSW	13	119,606,496 (GRCm39)	missense	probably benign	0.01
R6255:4833420G17Rik	UTSW	13	119,602,659 (GRCm39)	missense	possibly damaging	0.95
R6491:4833420G17Rik	UTSW	13	119,612,508 (GRCm39)	missense	probably damaging	1.00
R6564:4833420G17Rik	UTSW	13	119,622,613 (GRCm39)	splice site	probably null
R7023:4833420G17Rik	UTSW	13	119,610,443 (GRCm39)	missense	probably benign	0.10
R7574:4833420G17Rik	UTSW	13	119,606,478 (GRCm39)	missense	probably damaging	0.99
R9218:4833420G17Rik	UTSW	13	119,610,460 (GRCm39)	missense	probably damaging	0.96
R9508:4833420G17Rik	UTSW	13	119,617,484 (GRCm39)	missense
R9567:4833420G17Rik	UTSW	13	119,602,793 (GRCm39)	missense	probably damaging	1.00
R9759:4833420G17Rik	UTSW	13	119,615,989 (GRCm39)	missense	probably damaging	1.00
Z1176:4833420G17Rik	UTSW	13	119,614,344 (GRCm39)	missense	not run
Z1177:4833420G17Rik	UTSW	13	119,614,344 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- GTTTTGTTGACTTAACGGCAGC -3'
(R):5'- AGTCTCATTCCCACTGTGAGTTAAG -3'

Sequencing Primer
(F):5'- GACTTAACGGCAGCTATTTTGAGGAC -3'
(R):5'- TGGCTCAGCGGTTAAAAGCAC -3'

Posted On

2022-07-18