Mutagenetix > Incidental Mutations

Incidental Mutation 'R3961:9930111J21Rik1'

312092

Institutional Source

Beutler Lab

Gene Symbol

9930111J21Rik1

Ensembl Gene

ENSMUSG00000069893

Gene Name

RIKEN cDNA 9930111J21 gene 1

Synonyms

9930111J21Rik

MMRRC Submission

040836-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3961 (G1)

Quality Score

163

Status

Not validated

Chromosome

Chromosomal Location

48946150-48979398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48947976 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 595 (T595A)

Ref Sequence

ENSEMBL: ENSMUSP00000095102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000097494] [ENSMUST00000104958]

Predicted Effect

probably benign
Transcript: ENSMUST00000059930

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852

Domain	Start	End	E-Value	Type
Pfam:IIGP	27	389	8.4e-123	PFAM
Pfam:MMR_HSR1	63	190	2.2e-9	PFAM
low complexity region	421	432	N/A	INTRINSIC
Pfam:IIGP	438	811	3.4e-152	PFAM
Pfam:MMR_HSR1	474	632	1.4e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097494
AA Change: T595A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: T595A

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	1.9e-153	PFAM
Pfam:MMR_HSR1	483	611	3.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104958

SMART Domains

Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	11	71	1.2e-26	PFAM
Pfam:PA28_beta	93	237	5.3e-58	PFAM

Meta Mutation Damage Score

0.5383

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AF529169	G	A	9: 89,601,910	T478I	probably damaging	Het
Bicral	T	C	17: 46,824,825	I486M	probably damaging	Het
Btbd1	C	A	7: 81,818,335	E146*	probably null	Het
Cdcp1	T	C	9: 123,182,381	T344A	possibly damaging	Het
Cenpm	A	T	15: 82,234,373	L180Q	possibly damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Dazl	A	G	17: 50,288,133	V91A	probably damaging	Het
Dsc2	C	T	18: 20,051,227	V35I	probably damaging	Het
Fras1	T	C	5: 96,677,385		probably null	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Mme	T	A	3: 63,345,192	M419K	probably damaging	Het
Ncan	G	A	8: 70,110,300	T436M	probably benign	Het
Nphp3	G	T	9: 104,003,042	E88*	probably null	Het
Olfr993	T	C	2: 85,414,872	I2M	possibly damaging	Het
Pdcl	T	C	2: 37,352,187	M184V	probably benign	Het
Polr3b	T	C	10: 84,684,302	M694T	possibly damaging	Het
Pramef8	T	A	4: 143,419,318	N452K	probably benign	Het
Prkdc	T	G	16: 15,829,611		probably null	Het
Prss35	A	G	9: 86,755,749	M191V	probably benign	Het
Rtn3	T	C	19: 7,458,145	S142G	probably damaging	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Taf7	A	G	18: 37,643,121	V131A	probably benign	Het
Tesk1	A	G	4: 43,445,133		probably null	Het
Tmem131	C	T	1: 36,818,950	D741N	probably damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Tpte	A	G	8: 22,359,415	S553G	probably damaging	Het
Trpv3	A	T	11: 73,287,420	K438*	probably null	Het
Vmn2r107	G	A	17: 20,375,455	G757R	probably damaging	Het

Other mutations in 9930111J21Rik1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:9930111J21Rik1	APN	11	48948212	missense	possibly damaging	0.66
IGL02189:9930111J21Rik1	APN	11	48947421	missense	probably benign	0.09
IGL02554:9930111J21Rik1	APN	11	48948003	missense	probably damaging	1.00
IGL03172:9930111J21Rik1	APN	11	48948176	missense	probably damaging	1.00
IGL03334:9930111J21Rik1	APN	11	48947475	missense	probably benign	0.09
R0502:9930111J21Rik1	UTSW	11	48947495	missense	possibly damaging	0.69
R0503:9930111J21Rik1	UTSW	11	48947495	missense	possibly damaging	0.69
R2023:9930111J21Rik1	UTSW	11	48948420	missense	possibly damaging	0.51
R3704:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R3705:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R3714:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R3715:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R3962:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R4867:9930111J21Rik1	UTSW	11	48948548	critical splice acceptor site	probably null
R5033:9930111J21Rik1	UTSW	11	48947706	missense	probably damaging	1.00
R5159:9930111J21Rik1	UTSW	11	48948525	missense	probably benign	0.06
R6567:9930111J21Rik1	UTSW	11	48948123	missense	probably benign	0.26
R6774:9930111J21Rik1	UTSW	11	48947316	missense	possibly damaging	0.94
R7730:9930111J21Rik1	UTSW	11	48947876	missense	probably benign	0.19
R7863:9930111J21Rik1	UTSW	11	48947274	missense	probably benign	0.18
R8408:9930111J21Rik1	UTSW	11	48948002	missense	probably damaging	1.00
X0067:9930111J21Rik1	UTSW	11	48948042	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATGAAGAGGTGGCGCTTG -3'
(R):5'- TTGCCTGGCATTGGGTCTAC -3'

Sequencing Primer
(F):5'- CTCAGTAGGGTGGTCTCCAG -3'
(R):5'- GGTCTACTACCTTCCCACCAC -3'

Posted On

2015-04-29