Mutagenetix > Incidental Mutation

Incidental Mutation 'R0788:4833420G17Rik'

76365

Institutional Source

Beutler Lab

Gene Symbol

4833420G17Rik

Ensembl Gene

ENSMUSG00000062822

Gene Name

RIKEN cDNA 4833420G17 gene

Synonyms

MMRRC Submission

038968-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119599304-119622656 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 119610468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 380 (Y380*)

Ref Sequence

ENSEMBL: ENSMUSP00000153338 (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
AA Change: Y380*

SMART Domains

Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
AA Change: Y380*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000048965

Predicted Effect

probably benign
Transcript: ENSMUST00000224081

Predicted Effect

probably null
Transcript: ENSMUST00000224312
AA Change: Y380*

Predicted Effect

probably null
Transcript: ENSMUST00000225186
AA Change: Y380*

Predicted Effect

probably null
Transcript: ENSMUST00000225726
AA Change: Y380*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	C	A	7: 43,148,623 (GRCm39)	S196I	probably damaging	Het
Ablim2	T	C	5: 36,015,245 (GRCm39)	S519P	probably benign	Het
Adnp2	A	C	18: 80,173,219 (GRCm39)	C397G	probably benign	Het
Aldh1l2	A	G	10: 83,352,028 (GRCm39)	S156P	probably damaging	Het
Bcl2l15	G	T	3: 103,740,794 (GRCm39)		probably null	Het
Brd9	T	A	13: 74,092,986 (GRCm39)		probably benign	Het
Cars2	A	C	8: 11,579,672 (GRCm39)	I262R	possibly damaging	Het
Ccdc106	T	C	7: 5,060,533 (GRCm39)		probably benign	Het
Cdh3	G	A	8: 107,268,047 (GRCm39)	V361M	probably benign	Het
Cdhr1	A	C	14: 36,809,332 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,225,468 (GRCm39)	I559T	possibly damaging	Het
Cdkn2aip	T	A	8: 48,166,798 (GRCm39)	Q3L	possibly damaging	Het
Chd1	G	T	17: 15,927,376 (GRCm39)	V10F	possibly damaging	Het
Col4a4	G	A	1: 82,502,717 (GRCm39)	P356S	unknown	Het
Col6a4	T	C	9: 105,949,197 (GRCm39)	K813E	probably benign	Het
Cttnbp2	G	A	6: 18,423,834 (GRCm39)	T830I	probably damaging	Het
Cyp2t4	A	G	7: 26,854,588 (GRCm39)	M23V	probably null	Het
Cyp3a16	T	C	5: 145,401,886 (GRCm39)	K59E	probably benign	Het
Dpysl5	G	A	5: 30,946,185 (GRCm39)		probably null	Het
E130308A19Rik	T	A	4: 59,719,847 (GRCm39)	Y460N	possibly damaging	Het
Ear6	T	A	14: 52,091,487 (GRCm39)	C11*	probably null	Het
Fat1	C	T	8: 45,477,020 (GRCm39)	T1999M	probably benign	Het
Gsdmd	T	A	15: 75,736,103 (GRCm39)	C77*	probably null	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Kif28	A	T	1: 179,532,788 (GRCm39)		probably benign	Het
Krt6b	A	G	15: 101,585,954 (GRCm39)	I373T	probably damaging	Het
Lgr5	T	C	10: 115,288,902 (GRCm39)	T509A	probably damaging	Het
Mapkbp1	C	T	2: 119,854,482 (GRCm39)	P1354S	probably benign	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncoa2	T	C	1: 13,237,113 (GRCm39)		probably benign	Het
Necap1	C	T	6: 122,858,495 (GRCm39)	R113W	probably damaging	Het
Or1l4	T	A	2: 37,092,035 (GRCm39)	Y261N	possibly damaging	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Per1	G	A	11: 68,992,185 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,132,354 (GRCm39)	D130G	probably null	Het
Ppcs	T	C	4: 119,279,375 (GRCm39)	N59S	probably damaging	Het
Ppp2ca	A	G	11: 52,003,969 (GRCm39)	E42G	possibly damaging	Het
Ptprf	T	C	4: 118,083,663 (GRCm39)	T807A	probably damaging	Het
Rapgef2	A	C	3: 79,006,502 (GRCm39)	F284V	possibly damaging	Het
Sestd1	A	T	2: 77,022,060 (GRCm39)	F544I	probably damaging	Het
Slfn3	G	A	11: 83,103,662 (GRCm39)	G178S	possibly damaging	Het
Supt6	G	A	11: 78,098,598 (GRCm39)		probably benign	Het
Tas2r109	T	A	6: 132,957,264 (GRCm39)	Q222L	probably benign	Het
Tekt4	A	C	17: 25,691,021 (GRCm39)	D109A	probably damaging	Het
Tob2	C	A	15: 81,735,903 (GRCm39)	R22L	probably damaging	Het
Ttn	T	G	2: 76,653,282 (GRCm39)	E178D	possibly damaging	Het
Ube2u	C	A	4: 100,371,937 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,332,812 (GRCm39)		probably benign	Het
Vstm2a	T	C	11: 16,209,968 (GRCm39)	F65L	probably damaging	Het
Zfp57	A	G	17: 37,317,092 (GRCm39)		probably benign	Het
Znrf3	G	T	11: 5,231,320 (GRCm39)	P731Q	probably benign	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
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
R9521:4833420G17Rik	UTSW	13	119,608,778 (GRCm39)	critical splice donor site	probably null
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'- CTGTGGTTGGCACTGGAGAAATGAA -3'
(R):5'- TGTCTGGCTCTTATCTCCCAGTAAGGA -3'

Sequencing Primer
(F):5'- gcactggagaaatgaagacagg -3'
(R):5'- caacacatccttccccatacc -3'

Posted On

2013-10-16