Mutagenetix > Incidental Mutation

Incidental Mutation 'R1807:4933430I17Rik'

203515

Institutional Source

Beutler Lab

Gene Symbol

4933430I17Rik

Ensembl Gene

ENSMUSG00000058046

Gene Name

RIKEN cDNA 4933430I17 gene

Synonyms

MMRRC Submission

039836-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62525369-62547993 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 62542756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 289 (Y289*)

Ref Sequence

ENSEMBL: ENSMUSP00000050465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062145]

AlphaFold

Q8BHW4

Predicted Effect

probably null
Transcript: ENSMUST00000062145
AA Change: Y289*

SMART Domains

Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046
AA Change: Y289*

Domain	Start	End	E-Value	Type
Pfam:DUF4647	22	481	7.3e-182	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.7%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	T	17: 35,895,069	W27*	probably null	Het
4933425L06Rik	A	T	13: 105,082,236	Q26L	probably benign	Het
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
A3galt2	A	G	4: 128,767,601	I348V	probably benign	Het
Abca13	A	G	11: 9,291,755	Y1206C	probably damaging	Het
Adar	T	C	3: 89,734,865	S18P	probably benign	Het
Akr1cl	T	C	1: 65,021,947	D139G	possibly damaging	Het
Aldh1b1	A	G	4: 45,802,873	Y137C	possibly damaging	Het
Arsa	T	C	15: 89,475,322	M86V	possibly damaging	Het
Atg9b	C	A	5: 24,387,057	R648L	probably damaging	Het
Atrn	A	G	2: 130,982,772	N1042S	possibly damaging	Het
Ccdc130	C	T	8: 84,260,307	R187Q	probably damaging	Het
Ccdc6	T	A	10: 70,175,159	D325E	possibly damaging	Het
Cdk12	T	C	11: 98,210,377	S354P	unknown	Het
Chst3	T	A	10: 60,186,308	Y239F	probably benign	Het
Cilp2	C	A	8: 69,882,194	R718L	probably damaging	Het
Col27a1	A	G	4: 63,331,349		probably benign	Het
Ctbp2	T	C	7: 133,014,408	N266S	probably benign	Het
Ctnnd2	T	C	15: 30,619,871	V123A	probably damaging	Het
D7Ertd443e	T	A	7: 134,293,305	E552V	probably null	Het
Dcst1	T	A	3: 89,353,541	H516L	probably damaging	Het
Drd2	C	T	9: 49,405,067	L376F	probably damaging	Het
Edn1	A	G	13: 42,306,794	N175S	probably damaging	Het
Eipr1	G	T	12: 28,766,839	G65V	probably damaging	Het
Epha4	G	A	1: 77,374,904	P905S	probably benign	Het
Erbb2	T	C	11: 98,428,854	Y591H	probably damaging	Het
Fam135b	G	A	15: 71,463,912	R478C	probably benign	Het
Fam49a	G	A	12: 12,361,504	R123Q	probably benign	Het
Fat2	T	C	11: 55,289,259	T1419A	probably damaging	Het
Flnb	C	T	14: 7,934,645	T2239I	probably benign	Het
Gm7713	T	C	15: 59,994,471		noncoding transcript	Het
Gm9008	A	G	6: 76,497,414	V73A	probably benign	Het
Hsf5	C	T	11: 87,657,342	P617L	probably benign	Het
Kcnk12	C	A	17: 87,746,040	R398L	probably benign	Het
Kif21b	T	A	1: 136,147,793	N219K	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klra5	A	T	6: 129,899,420	F141L	probably benign	Het
Lmtk3	C	T	7: 45,793,278	P462S	probably benign	Het
Mast2	A	G	4: 116,310,741		probably benign	Het
Me1	T	A	9: 86,650,879	T197S	probably damaging	Het
Msr1	T	A	8: 39,619,907	Q267L	probably benign	Het
Nfic	T	C	10: 81,404,985	T328A	probably benign	Het
Nphp3	G	A	9: 104,020,741	D390N	probably benign	Het
Nr2e1	T	A	10: 42,582,909		probably null	Het
Olfr1094	T	A	2: 86,829,101	F116L	probably benign	Het
Olfr603	T	A	7: 103,383,583	N140Y	probably benign	Het
Pard6b	T	C	2: 168,087,412	L46P	probably damaging	Het
Prkaa1	T	A	15: 5,143,954	L20Q	probably damaging	Het
Rapgefl1	T	C	11: 98,845,989		probably null	Het
Recql5	T	C	11: 115,895,115	K611E	possibly damaging	Het
Rexo1	A	T	10: 80,542,579	I1180N	possibly damaging	Het
Rph3a	T	C	5: 120,945,393	N605D	probably damaging	Het
Sema6a	A	G	18: 47,276,424	V592A	possibly damaging	Het
Skint11	A	T	4: 114,194,696	R80S	probably benign	Het
Smpdl3a	C	A	10: 57,801,022	P72H	probably damaging	Het
Sobp	T	G	10: 43,160,826	M39L	possibly damaging	Het
Sparcl1	T	A	5: 104,085,761	Y574F	probably damaging	Het
Spns3	C	T	11: 72,538,340	W206*	probably null	Het
Srf	A	G	17: 46,553,759	V190A	possibly damaging	Het
Stag1	T	G	9: 100,908,666	H742Q	probably benign	Het
Strn3	A	T	12: 51,627,203	S542T	probably benign	Het
Synpo2	T	C	3: 123,080,257	E1020G	possibly damaging	Het
Tcerg1l	T	A	7: 138,395,097	H137L	probably benign	Het
Tlr12	A	T	4: 128,617,436	D340E	probably benign	Het
Tmem130	T	A	5: 144,755,364	T77S	probably benign	Het
Tmem143	C	A	7: 45,897,613	R68S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446		probably benign	Het
Trem1	G	T	17: 48,241,635	G67*	probably null	Het
Tsc1	A	G	2: 28,686,113	D978G	probably benign	Het
Txndc9	A	T	1: 37,994,015	H95Q	probably damaging	Het
Zfp35	T	A	18: 24,003,929	N443K	probably benign	Het

Other mutations in 4933430I17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:4933430I17Rik	APN	4	62532666	splice site	probably benign
IGL00326:4933430I17Rik	APN	4	62543744	splice site	probably null
IGL01526:4933430I17Rik	APN	4	62532621	missense	possibly damaging	0.71
IGL02152:4933430I17Rik	APN	4	62542754	missense	possibly damaging	0.93
IGL03153:4933430I17Rik	APN	4	62547326	missense	possibly damaging	0.85
R0281:4933430I17Rik	UTSW	4	62546067	nonsense	probably null
R0436:4933430I17Rik	UTSW	4	62543445	splice site	probably benign
R1459:4933430I17Rik	UTSW	4	62532341	missense	probably damaging	0.99
R1930:4933430I17Rik	UTSW	4	62532282	missense	possibly damaging	0.83
R1958:4933430I17Rik	UTSW	4	62538909	missense	probably benign	0.09
R2118:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R2119:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R2124:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R4323:4933430I17Rik	UTSW	4	62547311	missense	probably damaging	0.98
R4592:4933430I17Rik	UTSW	4	62538927	missense	possibly damaging	0.93
R5708:4933430I17Rik	UTSW	4	62525869	missense	probably benign	0.01
R6576:4933430I17Rik	UTSW	4	62532605	missense	possibly damaging	0.71
R7506:4933430I17Rik	UTSW	4	62532261	missense	possibly damaging	0.51
R7953:4933430I17Rik	UTSW	4	62532659	missense	probably null	0.71
R8329:4933430I17Rik	UTSW	4	62543741	critical splice donor site	probably null
R8348:4933430I17Rik	UTSW	4	62542785	critical splice donor site	probably null
R8448:4933430I17Rik	UTSW	4	62542785	critical splice donor site	probably null
R8699:4933430I17Rik	UTSW	4	62532278	missense	probably damaging	0.98
R9516:4933430I17Rik	UTSW	4	62542679	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCACTCTCTGAAAAGAGATGC -3'
(R):5'- AGTTGGAACCAGAGGCATCC -3'

Sequencing Primer
(F):5'- CTCTCTGAAAAGAGATGCTGCTGAC -3'
(R):5'- GACTTCTACTTCCATACAATCCAGC -3'

Posted On

2014-06-23