Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:9130401M01Rik'

676797

Institutional Source

Beutler Lab

Gene Symbol

9130401M01Rik

Ensembl Gene

ENSMUSG00000101892

Gene Name

RIKEN cDNA 9130401M01 gene

Synonyms

MMRRC Submission

068747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57885666-57897690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57885905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 326 (V326M)

Ref Sequence

ENSEMBL: ENSMUSP00000098220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100655]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000100655
AA Change: V326M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098220
Gene: ENSMUSG00000101892
AA Change: V326M

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
SCOP:d1elwa_	49	174	2e-7	SMART
low complexity region	207	220	N/A	INTRINSIC
low complexity region	241	278	N/A	INTRINSIC

Meta Mutation Damage Score

0.2376

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	A	11: 80,047,785 (GRCm39)	H80Q	probably benign	Het
Ang4	T	C	14: 52,001,943 (GRCm39)	T2A	probably benign	Het
Arf2	T	C	11: 103,870,585 (GRCm39)		probably null	Het
B3gnt4	A	G	5: 123,649,211 (GRCm39)	D192G	probably damaging	Het
BC034090	T	C	1: 155,102,103 (GRCm39)	I54V	probably benign	Het
Catsper3	A	G	13: 55,952,708 (GRCm39)	T202A	probably benign	Het
Cenpe	T	A	3: 134,965,862 (GRCm39)	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,602,773 (GRCm39)	V191A	probably benign	Het
Col5a1	G	T	2: 27,904,170 (GRCm39)	A1356S	unknown	Het
Cuzd1	A	G	7: 130,910,577 (GRCm39)	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,589,168 (GRCm39)	M215I	possibly damaging	Het
Dcaf17	T	A	2: 70,893,746 (GRCm39)	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,431,006 (GRCm39)	I232V	probably benign	Het
Dnah10	A	G	5: 124,895,181 (GRCm39)	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,621,988 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,581,781 (GRCm39)	I41T	probably benign	Het
Ehd1	A	G	19: 6,348,354 (GRCm39)	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,726,488 (GRCm39)	M766L	possibly damaging	Het
Eno4	A	G	19: 58,959,154 (GRCm39)	I613M	probably benign	Het
Exoc3l	A	T	8: 106,017,181 (GRCm39)	M602K		Het
Fam107a	C	T	14: 8,301,352 (GRCm38)		probably null	Het
Frem3	A	T	8: 81,339,777 (GRCm39)	D690V	probably damaging	Het
Gm19410	A	T	8: 36,239,022 (GRCm39)	D97V	probably damaging	Het
Grik5	T	A	7: 24,722,489 (GRCm39)	D540V	possibly damaging	Het
Hint1	T	A	11: 54,760,769 (GRCm39)	D69E	probably benign	Het
Krt13	T	C	11: 100,010,211 (GRCm39)	T257A	probably benign	Het
Lpin2	T	C	17: 71,549,749 (GRCm39)	L676P	probably damaging	Het
Lrguk	A	G	6: 34,006,618 (GRCm39)	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,146,310 (GRCm39)	M375V	probably benign	Het
Lrrtm3	T	C	10: 63,925,017 (GRCm39)	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,953,513 (GRCm39)	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,185,767 (GRCm39)	I135T	probably damaging	Het
Neb	T	C	2: 52,125,592 (GRCm39)	D475G		Het
Notch2	A	G	3: 98,042,915 (GRCm39)	S1427G	possibly damaging	Het
Odad4	G	T	11: 100,457,752 (GRCm39)	E452*	probably null	Het
Opcml	T	C	9: 28,813,447 (GRCm39)	F246S	probably damaging	Het
Or10al2	C	A	17: 37,983,302 (GRCm39)	Y129*	probably null	Het
Or2ag1b	A	T	7: 106,288,296 (GRCm39)	I214N	probably damaging	Het
Or56a42-ps1	A	G	7: 104,775,893 (GRCm39)	V195A	probably benign	Het
Or6c69	A	G	10: 129,747,731 (GRCm39)	C139R	probably damaging	Het
Or8g33	A	C	9: 39,337,515 (GRCm39)	V284G	possibly damaging	Het
Pdzd2	C	A	15: 12,402,405 (GRCm39)	V729F	probably damaging	Het
Pias2	C	T	18: 77,234,464 (GRCm39)	Q565*	probably null	Het
Pnp	T	A	14: 51,188,177 (GRCm39)		probably null	Het
Ptpn18	T	C	1: 34,502,211 (GRCm39)	S76P	probably benign	Het
Qtrt2	A	T	16: 43,683,560 (GRCm39)	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,507,401 (GRCm39)	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,313,711 (GRCm39)	V1477E	probably benign	Het
Repin1	C	T	6: 48,574,367 (GRCm39)	T432I	possibly damaging	Het
Rest	G	A	5: 77,430,358 (GRCm39)	G926R	probably benign	Het
Rnft1	T	A	11: 86,377,516 (GRCm39)	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,282,108 (GRCm39)	I415L	probably benign	Het
Slc10a1	T	A	12: 81,014,369 (GRCm39)	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,366,709 (GRCm39)		probably benign	Het
Slc2a2	T	C	3: 28,767,951 (GRCm39)	S160P	possibly damaging	Het
Srrd	A	G	5: 112,486,322 (GRCm39)	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,829,277 (GRCm39)	G198C	probably benign	Het
Trbv28	G	A	6: 41,248,339 (GRCm39)	M1I	probably null	Het
Tril	A	G	6: 53,796,569 (GRCm39)	S218P	probably damaging	Het
Trip11	T	C	12: 101,828,857 (GRCm39)	K1749R	probably benign	Het
Ttn	A	G	2: 76,660,995 (GRCm39)	V12011A		Het
Ubr4	T	G	4: 139,137,829 (GRCm39)	F1093V	probably benign	Het
Urb2	C	A	8: 124,755,142 (GRCm39)	A283E	probably benign	Het
Usp43	T	A	11: 67,789,707 (GRCm39)		probably benign	Het
Vmn1r28	A	T	6: 58,242,669 (GRCm39)	I171F	probably benign	Het
Vps33a	G	A	5: 123,671,962 (GRCm39)	R469W	probably damaging	Het
Zfp202	G	A	9: 40,123,053 (GRCm39)	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,445,446 (GRCm39)	H158L	probably benign	Het

Other mutations in 9130401M01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0316:9130401M01Rik	UTSW	15	57,888,765 (GRCm39)	missense	probably damaging	0.96
R0318:9130401M01Rik	UTSW	15	57,892,370 (GRCm39)	missense	probably damaging	0.96
R0322:9130401M01Rik	UTSW	15	57,888,768 (GRCm39)	missense	possibly damaging	0.90
R0365:9130401M01Rik	UTSW	15	57,892,088 (GRCm39)	missense	probably benign	0.00
R1019:9130401M01Rik	UTSW	15	57,885,823 (GRCm39)	missense	possibly damaging	0.47
R1432:9130401M01Rik	UTSW	15	57,892,256 (GRCm39)	missense	probably damaging	1.00
R3195:9130401M01Rik	UTSW	15	57,892,132 (GRCm39)	missense	probably benign	0.31
R3196:9130401M01Rik	UTSW	15	57,892,132 (GRCm39)	missense	probably benign	0.31
R6439:9130401M01Rik	UTSW	15	57,895,444 (GRCm39)	missense	probably null	0.92
R6953:9130401M01Rik	UTSW	15	57,892,223 (GRCm39)	missense	probably damaging	0.99
R7724:9130401M01Rik	UTSW	15	57,885,857 (GRCm39)	missense	probably benign	0.03
R7739:9130401M01Rik	UTSW	15	57,885,875 (GRCm39)	missense	probably benign	0.24
R9045:9130401M01Rik	UTSW	15	57,892,130 (GRCm39)	missense	possibly damaging	0.76
R9257:9130401M01Rik	UTSW	15	57,892,414 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AACAAGGATATTCAGGTTCGGG -3'
(R):5'- ACTCAGGATTCTCGGAGAATGAG -3'

Sequencing Primer
(F):5'- GATTGGTTTCCTAAGCGATGATCTC -3'
(R):5'- TGGCATCCCTGACACTGG -3'

Posted On

2021-07-15