Mutagenetix > Incidental Mutation

Incidental Mutation 'R3709:9930111J21Rik2'

259503

Institutional Source

Beutler Lab

Gene Symbol

9930111J21Rik2

Ensembl Gene

ENSMUSG00000069892

Gene Name

RIKEN cDNA 9930111J21 gene 2

Synonyms

MMRRC Submission

040702-MU

Accession Numbers

Essential gene?

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

Stock #

R3709 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48928487-48942069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 48910480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 651 (D651A)

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 damaging
Transcript: ENSMUST00000101295
AA Change: D651A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098853
Gene: ENSMUSG00000069892
AA Change: D651A

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,788,738 (GRCm39)	N1039S	probably benign	Het
Abcc2	G	T	19: 43,786,885 (GRCm39)	V169F	possibly damaging	Het
Adcy8	T	C	15: 64,597,384 (GRCm39)		probably benign	Het
Aida	C	A	1: 183,085,610 (GRCm39)		probably null	Het
Armc8	A	G	9: 99,402,550 (GRCm39)	I333T	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Ccdc92b	C	A	11: 74,528,933 (GRCm39)	R146S	probably damaging	Het
Cdc42bpa	A	G	1: 179,892,628 (GRCm39)	D264G	probably damaging	Het
Cenpf	A	G	1: 189,381,009 (GRCm39)	S2804P	possibly damaging	Het
Cic	A	G	7: 24,986,406 (GRCm39)	D1276G	probably damaging	Het
Cldn19	T	C	4: 119,114,094 (GRCm39)	S79P	possibly damaging	Het
Ctdp1	G	A	18: 80,493,428 (GRCm39)	Q356*	probably null	Het
Cyp2c69	A	G	19: 39,839,667 (GRCm39)		probably benign	Het
Dhrs3	T	C	4: 144,620,281 (GRCm39)		probably null	Het
Fhod3	T	A	18: 25,223,815 (GRCm39)	W1054R	probably damaging	Het
Gfral	G	A	9: 76,100,725 (GRCm39)	R238*	probably null	Het
Gm10322	C	A	10: 59,451,941 (GRCm39)	D19E	possibly damaging	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Idh3a	T	C	9: 54,493,810 (GRCm39)	S4P	possibly damaging	Het
Il15ra	G	T	2: 11,735,458 (GRCm39)		probably null	Het
Ipo8	A	T	6: 148,707,842 (GRCm39)		probably null	Het
Iqgap1	G	A	7: 80,366,835 (GRCm39)	T1595I	possibly damaging	Het
Kalrn	C	T	16: 34,212,400 (GRCm39)		probably null	Het
Klrb1a	T	C	6: 128,595,466 (GRCm39)	D96G	probably benign	Het
Lrp1b	C	T	2: 40,587,454 (GRCm39)	V165M	unknown	Het
Lrp4	A	C	2: 91,320,811 (GRCm39)	T975P	possibly damaging	Het
Lsm14a	T	A	7: 34,053,204 (GRCm39)	I283F	probably damaging	Het
Mael	T	C	1: 166,066,135 (GRCm39)	D34G	probably damaging	Het
Map2	C	T	1: 66,455,015 (GRCm39)	Q1302*	probably null	Het
Mctp1	T	C	13: 76,972,999 (GRCm39)		probably null	Het
Mlxip	T	C	5: 123,585,537 (GRCm39)	V642A	probably benign	Het
Myh9	T	C	15: 77,657,547 (GRCm39)	E1066G	possibly damaging	Het
Naa35	T	A	13: 59,765,846 (GRCm39)		probably benign	Het
Nacc1	T	A	8: 85,403,828 (GRCm39)	I16F	probably damaging	Het
Ncapd3	T	A	9: 26,963,645 (GRCm39)	N499K	probably benign	Het
Or10ab4	A	G	7: 107,655,004 (GRCm39)	M272V	possibly damaging	Het
Osbpl10	C	A	9: 115,036,655 (GRCm39)	P253Q	probably benign	Het
Ptpn21	G	T	12: 98,654,800 (GRCm39)	S722R	probably benign	Het
Rab44	C	T	17: 29,358,843 (GRCm39)	P344S	probably benign	Het
Rbms2	C	T	10: 127,979,312 (GRCm39)	R139Q	probably damaging	Het
Sh3bp2	T	C	5: 34,709,002 (GRCm39)	Y32H	probably damaging	Het
Slc6a15	A	G	10: 103,229,275 (GRCm39)	I105V	probably benign	Het
Thumpd3	A	G	6: 113,032,652 (GRCm39)	D130G	possibly damaging	Het
Trib1	A	G	15: 59,526,210 (GRCm39)	Y260C	probably damaging	Het
Tsks	G	T	7: 44,601,309 (GRCm39)	R208L	possibly damaging	Het
Ttn	G	T	2: 76,577,585 (GRCm39)	S22690*	probably null	Het
Ttyh2	T	G	11: 114,609,958 (GRCm39)	S510A	possibly damaging	Het
Was	G	T	X: 7,952,927 (GRCm39)	S271R	probably benign	Het
Zfp267	T	A	3: 36,213,725 (GRCm39)	C20S	possibly damaging	Het
Zfp472	T	A	17: 33,196,685 (GRCm39)	Y253*	probably null	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
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
R7891:9930111J21Rik2	UTSW	11	48,910,543 (GRCm39)	missense	probably benign	0.11
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'- CAGTGAAGCTTCATCCAGCC -3'
(R):5'- CCGAACCAAGATAGATCAAGATGTC -3'

Sequencing Primer
(F):5'- ATTTCTGACTAAGCCCCCAAGTGG -3'
(R):5'- TCAGTAATGAACAGAGGAGTAAACC -3'

Posted On

2015-01-23