Mutagenetix > Incidental Mutation

Incidental Mutation 'R1674:5430401F13Rik'

187906

Institutional Source

Beutler Lab

Gene Symbol

5430401F13Rik

Ensembl Gene

ENSMUSG00000094113

Gene Name

RIKEN cDNA 5430401F13 gene

Synonyms

MMRRC Submission

039710-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1674 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131486400-131553763 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131552803 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 120 (Q120L)

Ref Sequence

ENSEMBL: ENSMUSP00000125129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075020] [ENSMUST00000161385]

AlphaFold

E9Q328

Predicted Effect

unknown
Transcript: ENSMUST00000075020
AA Change: Q120L

SMART Domains

Protein: ENSMUSP00000074539
Gene: ENSMUSG00000094113
AA Change: Q120L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	100	116	N/A	INTRINSIC
low complexity region	118	166	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000161385
AA Change: Q120L

SMART Domains

Protein: ENSMUSP00000125129
Gene: ENSMUSG00000094113
AA Change: Q120L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	100	116	N/A	INTRINSIC
low complexity region	118	166	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	A	G	3: 79,631,144	T66A	probably benign	Het
Akirin1	A	G	4: 123,743,463	S110P	possibly damaging	Het
Ankmy2	T	A	12: 36,187,669	S256T	probably benign	Het
Areg	T	C	5: 91,143,626	F143L	probably damaging	Het
Arhgap42	A	G	9: 9,006,584	S604P	probably damaging	Het
Arid1a	A	G	4: 133,689,260	V1068A	unknown	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atoh1	T	G	6: 64,729,930	I203S	possibly damaging	Het
Atp5l	T	C	9: 44,914,659	T69A	possibly damaging	Het
Baz1b	A	G	5: 135,205,111	E164G	probably damaging	Het
Baz2b	A	T	2: 59,912,992	V1545E	possibly damaging	Het
Best1	A	G	19: 9,993,226		probably null	Het
Casp8	T	A	1: 58,844,416	I314N	probably damaging	Het
Ccdc13	T	C	9: 121,809,142	T26A	probably damaging	Het
Ccr6	A	T	17: 8,256,217	I85L	probably damaging	Het
Cdh10	A	T	15: 18,985,066	N272I	probably benign	Het
Cdh10	T	A	15: 19,013,330	I672K	probably damaging	Het
Cdk17	A	T	10: 93,221,630	E163V	probably benign	Het
Chsy1	T	C	7: 66,171,663	F549L	probably damaging	Het
CN725425	T	C	15: 91,246,921	Y420H	possibly damaging	Het
Cpt1b	A	T	15: 89,422,332	M281K	possibly damaging	Het
Crlf2	A	G	5: 109,558,803		probably null	Het
Ctif	T	C	18: 75,637,180	T45A	probably benign	Het
Ddx31	T	C	2: 28,858,816	F252S	probably damaging	Het
Dennd2d	T	C	3: 106,492,517	I242T	probably benign	Het
Dennd5b	A	G	6: 148,998,284	F1205S	probably damaging	Het
Dopey1	T	C	9: 86,536,160	S1981P	probably damaging	Het
Dsg1b	A	T	18: 20,399,521	T541S	probably benign	Het
Dst	T	A	1: 34,223,795		probably null	Het
Dysf	T	C	6: 84,179,715	V1508A	probably benign	Het
Erf	A	T	7: 25,245,306	L200Q	possibly damaging	Het
Erich3	A	G	3: 154,762,623		probably benign	Het
Esrrb	C	T	12: 86,514,451	L320F	probably damaging	Het
Fap	T	A	2: 62,519,005	D508V	probably benign	Het
Fdft1	A	C	14: 63,164,585	N48K	probably benign	Het
Fdps	A	G	3: 89,100,730	V94A	probably benign	Het
Fes	A	T	7: 80,377,938	H819Q	probably benign	Het
Foxd1	G	T	13: 98,354,839	D74Y	unknown	Het
Gm136	A	T	4: 34,746,662		probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm5919	T	A	9: 83,883,285	L58*	probably null	Het
Gm6871	C	T	7: 41,573,635	V10I	possibly damaging	Het
Isy1	T	C	6: 87,834,487	R29G	probably damaging	Het
Kif16b	T	A	2: 142,712,953	K653*	probably null	Het
Kif17	A	G	4: 138,301,258	T706A	probably benign	Het
Kif18b	G	T	11: 102,913,060	P425T	probably benign	Het
Lama1	T	A	17: 67,791,244	V1812E	probably benign	Het
Lama5	A	G	2: 180,201,987	V430A	probably benign	Het
Lclat1	A	G	17: 73,239,781	E231G	probably damaging	Het
Lig4	T	C	8: 9,971,692	D696G	probably benign	Het
Mylpf	T	A	7: 127,214,137	V151E	probably damaging	Het
Naa16	A	T	14: 79,387,057	M1K	probably null	Het
Ndufaf6	T	C	4: 11,070,264	K119R	probably benign	Het
Nt5c1b	T	C	12: 10,370,055		probably benign	Het
Olfr1080	T	A	2: 86,553,860	D88V	probably damaging	Het
Olfr1102	T	C	2: 87,002,233	V88A	probably benign	Het
Olfr1197	A	G	2: 88,729,257	V114A	probably damaging	Het
Olfr1504	T	A	19: 13,887,590	I207L	probably benign	Het
Olfr307	G	A	7: 86,335,557	P280S	probably damaging	Het
Otud4	A	G	8: 79,673,147	N830S	probably benign	Het
Pdcd10	A	C	3: 75,541,179	M26R	probably damaging	Het
Pitpnc1	A	G	11: 107,226,245	V223A	possibly damaging	Het
Pkp2	A	G	16: 16,240,558	D368G	possibly damaging	Het
Pla1a	A	T	16: 38,414,810	M174K	probably benign	Het
Polr2b	A	G	5: 77,326,623	K436E	possibly damaging	Het
Rdh16	A	G	10: 127,801,357	M54V	probably benign	Het
Sall2	C	A	14: 52,313,836	C632F	probably damaging	Het
Sart1	T	A	19: 5,385,825	I120F	probably damaging	Het
Slco1a1	A	T	6: 141,935,935	M157K	probably damaging	Het
Snapc4	T	C	2: 26,376,197	T178A	probably benign	Het
Sox6	T	C	7: 115,801,419	I63V	probably benign	Het
Spin1	T	A	13: 51,149,099	Y243N	probably damaging	Het
Stmnd1	T	C	13: 46,299,621	Y258H	possibly damaging	Het
Tex13b	A	T	X: 140,810,070	N184K	probably benign	Het
Tgm5	T	C	2: 121,071,544	T215A	possibly damaging	Het
Tnks2	A	G	19: 36,871,622	T165A	probably benign	Het
Top2a	A	T	11: 99,009,273	F667Y	probably damaging	Het
Tpo	T	C	12: 30,100,568	M438V	probably benign	Het
Tyw1	A	G	5: 130,269,328	R237G	probably benign	Het
Unc5c	G	A	3: 141,757,837	V240I	possibly damaging	Het
Unc80	A	C	1: 66,509,308	T580P	probably damaging	Het
Upp2	G	A	2: 58,790,064	E301K	probably benign	Het
Utp18	A	G	11: 93,876,053		probably null	Het
Vmn1r23	T	C	6: 57,926,061	D244G	possibly damaging	Het
Vps13c	T	A	9: 67,853,703	L51*	probably null	Het
Xpnpep3	A	G	15: 81,430,767	T223A	probably benign	Het
Zfp28	T	A	7: 6,394,943	H792Q	possibly damaging	Het
Zfp804a	A	G	2: 82,258,824	K999R	probably benign	Het
Zkscan16	G	A	4: 58,948,918	V158M	possibly damaging	Het

Other mutations in 5430401F13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02737:5430401F13Rik	APN	6	131552592	missense	probably benign	0.14
R0866:5430401F13Rik	UTSW	6	131552779	missense	unknown
R6374:5430401F13Rik	UTSW	6	131552929	missense	unknown
R6671:5430401F13Rik	UTSW	6	131551350	critical splice donor site	probably null
R7150:5430401F13Rik	UTSW	6	131552667	missense	probably benign	0.16
RF005:5430401F13Rik	UTSW	6	131552884	small insertion	probably benign
RF014:5430401F13Rik	UTSW	6	131552857	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552856	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552859	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552861	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131552855	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131552878	small insertion	probably benign
RF029:5430401F13Rik	UTSW	6	131552895	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131552887	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131552888	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552873	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552892	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552894	small insertion	probably benign
RF042:5430401F13Rik	UTSW	6	131552886	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131552887	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131552901	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131552883	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131552884	small insertion	probably benign
X0062:5430401F13Rik	UTSW	6	131552638	missense	probably benign	0.29
Z1177:5430401F13Rik	UTSW	6	131552721	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TCAGCATGGTAAGGAAGCCATCAAG -3'
(R):5'- TCTGAGGGAATCACTGGAGACCATC -3'

Sequencing Primer
(F):5'- TAAGGAAGCCATCAAGTCCAAG -3'
(R):5'- GAGACCATCTTTAGTAGGTTCTCC -3'

Posted On

2014-05-09