Mutagenetix > Incidental Mutation

Incidental Mutation 'R3714:9930111J21Rik1'

259804

Institutional Source

Beutler Lab

Gene Symbol

9930111J21Rik1

Ensembl Gene

ENSMUSG00000069893

Gene Name

RIKEN cDNA 9930111J21 gene 1

Synonyms

9930111J21Rik

MMRRC Submission

040707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R3714 (G1)

Quality Score

174

Status

Not validated

Chromosome

Chromosomal Location

48946150-48979398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48947976 bp (GRCm38)

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]

AlphaFold

Q5SVP0

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: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adck5	G	A	15: 76,593,938	V229I	probably damaging	Het
AF366264	T	G	8: 13,836,736	I452L	probably benign	Het
Ankk1	T	G	9: 49,421,713	D157A	possibly damaging	Het
Atp1a2	A	G	1: 172,278,984	I817T	probably damaging	Het
Ccdc87	A	G	19: 4,840,259	S260G	probably benign	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Cntnap5c	C	T	17: 57,892,067	Q119*	probably null	Het
Cpb2	T	A	14: 75,283,217		probably null	Het
Ddx47	T	A	6: 135,019,062	I329K	probably damaging	Het
Elavl3	G	T	9: 22,018,599	D336E	probably benign	Het
Fam92b	C	T	8: 120,174,837	R43H	probably damaging	Het
Fras1	T	C	5: 96,645,970		probably null	Het
Fuk	G	T	8: 110,887,259	D723E	probably damaging	Het
Garem1	T	A	18: 21,148,890	E136D	probably damaging	Het
Haus6	A	G	4: 86,602,867	I178T	probably benign	Het
Igkv3-2	T	G	6: 70,698,496	V10G	possibly damaging	Het
Jrkl	A	C	9: 13,244,231	I475R	possibly damaging	Het
Lcmt1	C	T	7: 123,404,460	H146Y	probably damaging	Het
Lipk	A	G	19: 34,040,429	N289S	probably damaging	Het
Mb	A	G	15: 77,017,589	V102A	probably benign	Het
Mc4r	T	A	18: 66,859,821	N74Y	probably damaging	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Ndufs7	T	C	10: 80,252,421	I14T	probably benign	Het
Nlrp4b	T	C	7: 10,714,881	V337A	probably benign	Het
Npm2	T	C	14: 70,652,620		probably null	Het
Olfr1240	G	A	2: 89,439,383	L299F	probably damaging	Het
Olfr479	T	C	7: 108,055,435	F151S	probably damaging	Het
Olfr92	A	G	17: 37,111,335	Y216H	probably damaging	Het
Prdm9	T	A	17: 15,557,361	K154*	probably null	Het
Prkch	C	T	12: 73,775,516	P630S	probably damaging	Het
Ptprn	T	C	1: 75,252,767		probably null	Het
Rnf31	T	A	14: 55,603,394	D884E	probably damaging	Het
Slc22a27	A	T	19: 7,926,450	N107K	possibly damaging	Het
Spata5	G	A	3: 37,433,209	V407I	probably benign	Het
Tln1	G	T	4: 43,540,597	A1468D	probably damaging	Het
Tmem185b	T	A	1: 119,527,051	F181I	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trappc11	T	C	8: 47,505,316		probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vps37c	A	G	19: 10,706,268	D18G	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
R3715:9930111J21Rik1	UTSW	11	48947976	missense	possibly damaging	0.95
R3961:9930111J21Rik1	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
R9381:9930111J21Rik1	UTSW	11	48948377	missense	probably damaging	1.00
R9400:9930111J21Rik1	UTSW	11	48948417	missense	possibly damaging	0.82
R9493:9930111J21Rik1	UTSW	11	48947364	missense	probably damaging	1.00
R9560:9930111J21Rik1	UTSW	11	48948255	missense	probably damaging	1.00
R9574:9930111J21Rik1	UTSW	11	48947669	missense	probably damaging	1.00
R9687:9930111J21Rik1	UTSW	11	48948422	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

2015-01-23