Mutagenetix > Incidental Mutation

Incidental Mutation 'R7891:9930111J21Rik2'

609346

Institutional Source

Beutler Lab

Gene Symbol

9930111J21Rik2

Ensembl Gene

ENSMUSG00000069892

Gene Name

RIKEN cDNA 9930111J21 gene 2

Synonyms

MMRRC Submission

045943-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R7891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48928487-48942069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48910543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 630 (Q630R)

Ref Sequence

ENSEMBL: ENSMUSP00000098853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056759] [ENSMUST00000101295] [ENSMUST00000179282]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056759

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101295
AA Change: Q630R

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098853
Gene: ENSMUSG00000069892
AA Change: Q630R

Domain	Start	End	E-Value	Type
Pfam:IIGP	36	398	2e-125	PFAM
Pfam:DLIC	52	107	3.2e-5	PFAM
Pfam:MMR_HSR1	72	235	2e-11	PFAM
low complexity region	430	444	N/A	INTRINSIC
Pfam:IIGP	447	820	2.3e-151	PFAM
Pfam:MMR_HSR1	483	607	5.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179282

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	276	3.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	3.8e-26	PFAM

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	G	2: 164,920,864 (GRCm39)	E56D	unknown	Het
Abca9	A	G	11: 110,054,098 (GRCm39)	V68A	probably benign	Het
Acnat1	G	A	4: 49,449,181 (GRCm39)	A195V	possibly damaging	Het
Acsl3	C	T	1: 78,681,305 (GRCm39)	A612V	probably benign	Het
Adam12	A	T	7: 133,599,961 (GRCm39)	D115E	probably benign	Het
Adam3	T	A	8: 25,197,513 (GRCm39)		probably null	Het
Aif1	G	A	17: 35,391,600 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,824,139 (GRCm39)	D154G	probably damaging	Het
Arid3b	A	G	9: 57,717,442 (GRCm39)	C233R	probably benign	Het
Ccdc7b	T	A	8: 129,799,146 (GRCm39)	D74E	unknown	Het
Cckbr	T	A	7: 105,084,557 (GRCm39)	D430E	probably benign	Het
Chpf	T	C	1: 75,451,939 (GRCm39)	H667R	probably benign	Het
Dnah8	A	G	17: 30,931,263 (GRCm39)	E1426G	probably benign	Het
Dync1h1	A	G	12: 110,609,590 (GRCm39)	I2791V	probably benign	Het
Ehd3	A	G	17: 74,123,387 (GRCm39)	N130S	probably benign	Het
Fgfr4	A	G	13: 55,306,964 (GRCm39)	T218A	probably benign	Het
Foxe1	G	A	4: 46,344,599 (GRCm39)	E136K	possibly damaging	Het
Frmpd1	A	G	4: 45,284,478 (GRCm39)	S1100G	probably benign	Het
Gask1b	G	A	3: 79,793,591 (GRCm39)	A20T	probably benign	Het
Gm21886	T	G	18: 80,132,972 (GRCm39)	Q62P	probably null	Het
Golga4	A	G	9: 118,385,434 (GRCm39)	E852G	probably damaging	Het
Gprin3	T	C	6: 59,330,696 (GRCm39)	D537G	probably benign	Het
Gpx5	C	A	13: 21,472,918 (GRCm39)	D139Y	probably damaging	Het
Hmcn1	T	C	1: 150,468,940 (GRCm39)	Y5007C	probably damaging	Het
Igsf10	G	A	3: 59,235,832 (GRCm39)	R1450*	probably null	Het
Kif21a	G	A	15: 90,840,517 (GRCm39)	P1200S	probably damaging	Het
Kmt2c	G	A	5: 25,505,109 (GRCm39)	R3400C	probably damaging	Het
Miox	A	C	15: 89,220,742 (GRCm39)	M216L	probably benign	Het
Mphosph9	T	C	5: 124,428,967 (GRCm39)	Y687C	probably damaging	Het
Mxi1	T	A	19: 53,299,192 (GRCm39)	V21D	probably benign	Het
Nbeal1	T	C	1: 60,299,591 (GRCm39)	L1309P	probably benign	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10ag54	A	T	2: 87,099,421 (GRCm39)	T99S	possibly damaging	Het
Or13c25	C	T	4: 52,911,663 (GRCm39)	V44I	probably benign	Het
Or4c100	G	A	2: 88,356,289 (GRCm39)	V121I	probably benign	Het
Or7g22	T	C	9: 19,049,141 (GRCm39)	M284T	possibly damaging	Het
Polq	A	G	16: 36,848,244 (GRCm39)	T284A	probably damaging	Het
Polrmt	A	T	10: 79,577,714 (GRCm39)	M295K	probably damaging	Het
Pou2af1	G	T	9: 51,144,297 (GRCm39)	M70I	probably damaging	Het
Pou3f1	G	A	4: 124,552,232 (GRCm39)	E245K	probably damaging	Het
Psmb1	C	T	17: 15,714,748 (GRCm39)	V50I	probably benign	Het
Ptgis	T	C	2: 167,069,434 (GRCm39)	D50G	probably damaging	Het
R3hdm2	A	G	10: 127,334,443 (GRCm39)	I955M	probably benign	Het
Rasef	G	A	4: 73,677,935 (GRCm39)	T97I	probably benign	Het
Rasef	T	C	4: 73,709,201 (GRCm39)	T11A	probably benign	Het
Sema4c	C	A	1: 36,588,995 (GRCm39)	L710F	probably damaging	Het
Slc39a10	C	T	1: 46,851,328 (GRCm39)	A721T	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,139 (GRCm39)	C1330R	possibly damaging	Het
Susd1	T	C	4: 59,349,915 (GRCm39)	D560G	possibly damaging	Het
Tnfrsf1b	T	C	4: 144,955,660 (GRCm39)	Y32C	probably damaging	Het
Trhr2	C	A	8: 123,084,083 (GRCm39)	V306F	probably damaging	Het
Trpm6	A	T	19: 18,754,074 (GRCm39)	Q35L	probably benign	Het
Ttbk2	A	G	2: 120,616,510 (GRCm39)	S197P	probably damaging	Het
Uggt2	T	A	14: 119,280,059 (GRCm39)	E806D	probably benign	Het
Ushbp1	T	G	8: 71,841,422 (GRCm39)	Q469P	possibly damaging	Het
Vmn1r73	G	A	7: 11,491,036 (GRCm39)	V285I	possibly damaging	Het
Zfp934	A	C	13: 62,668,003 (GRCm39)	S63R	probably benign	Het

Other mutations in 9930111J21Rik2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1986:9930111J21Rik2	UTSW	11	48,910,119 (GRCm39)	missense	possibly damaging	0.83
R2023:9930111J21Rik2	UTSW	11	48,911,144 (GRCm39)	missense	probably benign	0.01
R2202:9930111J21Rik2	UTSW	11	48,910,149 (GRCm39)	missense	probably damaging	1.00
R2205:9930111J21Rik2	UTSW	11	48,910,149 (GRCm39)	missense	probably damaging	1.00
R2337:9930111J21Rik2	UTSW	11	48,911,131 (GRCm39)	missense	probably benign	0.01
R3709:9930111J21Rik2	UTSW	11	48,910,480 (GRCm39)	missense	probably damaging	1.00
R3716:9930111J21Rik2	UTSW	11	48,910,363 (GRCm39)	missense	probably damaging	0.96
R3738:9930111J21Rik2	UTSW	11	48,910,108 (GRCm39)	nonsense	probably null
R3739:9930111J21Rik2	UTSW	11	48,910,108 (GRCm39)	nonsense	probably null
R4034:9930111J21Rik2	UTSW	11	48,910,108 (GRCm39)	nonsense	probably null
R5413:9930111J21Rik2	UTSW	11	48,911,204 (GRCm39)	missense	possibly damaging	0.91
R5595:9930111J21Rik2	UTSW	11	48,910,538 (GRCm39)	missense	possibly damaging	0.95
R5611:9930111J21Rik2	UTSW	11	48,910,828 (GRCm39)	missense	possibly damaging	0.91
R5651:9930111J21Rik2	UTSW	11	48,910,700 (GRCm39)	missense	probably damaging	0.99
R5715:9930111J21Rik2	UTSW	11	48,910,777 (GRCm39)	missense	probably damaging	1.00
R6169:9930111J21Rik2	UTSW	11	48,910,088 (GRCm39)	splice site	probably null
R6218:9930111J21Rik2	UTSW	11	48,910,134 (GRCm39)	missense	probably benign	0.06
R6536:9930111J21Rik2	UTSW	11	48,910,550 (GRCm39)	missense	probably benign	0.03
R7186:9930111J21Rik2	UTSW	11	48,910,100 (GRCm39)	missense	possibly damaging	0.96
R8056:9930111J21Rik2	UTSW	11	48,910,909 (GRCm39)	missense	probably benign	0.40
R8419:9930111J21Rik2	UTSW	11	48,910,312 (GRCm39)	missense	probably damaging	1.00
R8726:9930111J21Rik2	UTSW	11	48,910,507 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCCCTCTTCCGGGCAATG -3'
(R):5'- CCTGGCATTGGGTCTACTAC -3'

Sequencing Primer
(F):5'- CAATGGCAGTCTCAGTAACACTGTG -3'
(R):5'- ATCTCGGCTACATGCTTCAAAG -3'

Posted On

2019-12-20