Mutagenetix > Incidental Mutations

Incidental Mutation 'R8890:4930567H17Rik'

677660

Institutional Source

Beutler Lab

Gene Symbol

4930567H17Rik

Ensembl Gene

ENSMUSG00000073141

Gene Name

RIKEN cDNA 4930567H17 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8890 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

70393901-70394740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70394388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 100 (R100W)

Ref Sequence

ENSEMBL: ENSMUSP00000090060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053981] [ENSMUST00000092405]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053981

SMART Domains

Protein: ENSMUSP00000052765
Gene: ENSMUSG00000045237

Domain	Start	End	E-Value	Type
ASCH	6	114	3.72e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092405
AA Change: R100W

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090060
Gene: ENSMUSG00000073141
AA Change: R100W

Domain	Start	End	E-Value	Type
SCOP:d1sig__	115	223	1e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	A	T	9: 36,693,312	M1L	probably benign	Het
Adam23	G	A	1: 63,585,365	G784D	possibly damaging	Het
Astl	A	T	2: 127,356,559	M365L	probably benign	Het
C1ql3	T	A	2: 13,010,373	T159S		Het
Ccser2	T	G	14: 36,879,395	D344A	probably damaging	Het
Cox11	A	C	11: 90,643,773	I214L	probably damaging	Het
Cramp1l	C	T	17: 24,983,140	G456D	probably damaging	Het
Ctsq	T	A	13: 61,037,688	Y213F	probably damaging	Het
Cyp2j5	T	A	4: 96,634,318	I340F	probably damaging	Het
Efcab6	A	G	15: 83,945,148	F664L	probably damaging	Het
Eif3j2	A	G	18: 43,477,211	L179P	probably benign	Het
Fam109b	G	T	15: 82,343,417	V46F	probably damaging	Het
Fhad1	A	T	4: 141,929,591	M84K	probably benign	Het
Gabbr1	T	C	17: 37,047,544	V58A	probably benign	Het
Gabra1	T	A	11: 42,133,726	Y374F	probably benign	Het
Glt28d2	A	T	3: 85,872,052	V38D	possibly damaging	Het
Gm13101	G	T	4: 143,964,924	Q410K	probably benign	Het
Grid2	A	T	6: 63,256,939	H28L	probably benign	Het
Hat1	G	A	2: 71,438,793	R355K	probably damaging	Het
Hivep3	T	C	4: 120,096,460	Y658H	possibly damaging	Het
Hsh2d	T	C	8: 72,197,846	F108S	probably damaging	Het
Il17rc	G	T	6: 113,479,070	C292F	probably damaging	Het
Il31ra	T	C	13: 112,524,327	D576G	possibly damaging	Het
Iqsec3	T	C	6: 121,412,556	D652G	probably damaging	Het
Kdm5a	T	A	6: 120,389,663	S420R	probably damaging	Het
Klhdc7b	A	G	15: 89,388,685	T599A	probably benign	Het
Lrrc8c	A	T	5: 105,607,088	E243V	probably damaging	Het
Mecom	A	G	3: 29,952,733	S714P	probably damaging	Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Mipep	G	T	14: 60,872,057	A628S	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mterf3	C	T	13: 66,916,612		probably null	Het
Myh15	C	A	16: 49,138,767	L1001I	probably damaging	Het
Myom3	G	A	4: 135,814,254	M1385I	probably benign	Het
Nbea	T	C	3: 56,019,363		probably benign	Het
Nphs1	C	T	7: 30,462,655	R270W	probably damaging	Het
Nwd1	T	A	8: 72,711,856	S1552T	probably benign	Het
Olfr1130	A	T	2: 87,608,068	I227F	probably damaging	Het
Olfr16	G	A	1: 172,957,478	V228M	probably benign	Het
Olfr569	A	T	7: 102,887,492	Y220*	probably null	Het
Olfr629	G	T	7: 103,740,468	F257L	probably damaging	Het
Pcdh7	A	T	5: 57,719,375	I91F	probably damaging	Het
Piezo1	T	C	8: 122,489,591	R1394G		Het
Psmd1	G	A	1: 86,085,192	R361Q	probably damaging	Het
Ralb	G	A	1: 119,483,516	T31M	probably damaging	Het
Rassf4	T	A	6: 116,640,344	K233N	probably damaging	Het
Rif1	T	C	2: 52,098,863	F756S	probably damaging	Het
Rpgrip1	G	A	14: 52,145,044	D556N	possibly damaging	Het
Scai	T	C	2: 39,150,388		probably benign	Het
Scfd1	A	G	12: 51,427,895	T478A	probably benign	Het
Spag17	T	A	3: 100,004,678	I288N	possibly damaging	Het
Sult1e1	C	T	5: 87,579,860	V188I	probably benign	Het
Tmco1	A	G	1: 167,316,245	R82G		Het
Tmem109	T	C	19: 10,871,871	S207G	probably benign	Het
Vmn2r115	A	G	17: 23,359,523	T657A	probably damaging	Het
Whamm	A	G	7: 81,593,892	T621A	probably benign	Het
Zbtb40	A	G	4: 136,998,586	L554P	probably damaging	Het
Zfp131	A	T	13: 119,782,802	M114K	probably damaging	Het
Zfp532	C	T	18: 65,624,333	P446S	probably damaging	Het

Other mutations in 4930567H17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0737:4930567H17Rik	UTSW	X	70394207	unclassified	probably benign
R2257:4930567H17Rik	UTSW	X	70394406	missense	probably damaging	1.00
R3919:4930567H17Rik	UTSW	X	70394529	missense	probably benign	0.07
R3939:4930567H17Rik	UTSW	X	70394529	missense	probably benign	0.07
R3940:4930567H17Rik	UTSW	X	70394529	missense	probably benign	0.07
R4231:4930567H17Rik	UTSW	X	70394529	missense	probably benign	0.07
R4232:4930567H17Rik	UTSW	X	70394529	missense	probably benign	0.07
R4234:4930567H17Rik	UTSW	X	70394529	missense	probably benign	0.07
R4235:4930567H17Rik	UTSW	X	70394529	missense	probably benign	0.07
R4236:4930567H17Rik	UTSW	X	70394529	missense	probably benign	0.07
R8139:4930567H17Rik	UTSW	X	70394514	missense	possibly damaging	0.89
R8895:4930567H17Rik	UTSW	X	70394388	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACAGTTGTTTTCCGTGTAATGATCA -3'
(R):5'- CATGGAAGACGGCATCACAC -3'

Sequencing Primer
(F):5'- CCGTGTAATGATCATCATCGTC -3'
(R):5'- GGGCCTCTGAGACCACATAAAAG -3'

Posted On

2021-08-02