Mutagenetix > Incidental Mutation

Incidental Mutation 'R5159:9930111J21Rik1'

396886

Institutional Source

Beutler Lab

Gene Symbol

9930111J21Rik1

Ensembl Gene

ENSMUSG00000069893

Gene Name

RIKEN cDNA 9930111J21 gene 1

Synonyms

9930111J21Rik

MMRRC Submission

042741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5159 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48836977-48870208 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48839352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 412 (T412A)

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

probably benign
Transcript: ENSMUST00000097494
AA Change: T412A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: T412A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh5a1	T	A	13: 25,097,776 (GRCm39)	M420L	possibly damaging	Het
Armc2	A	G	10: 41,884,711 (GRCm39)	S77P	probably damaging	Het
Avil	A	G	10: 126,856,317 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,100,530 (GRCm39)	H323R	probably damaging	Het
Bmp5	T	A	9: 75,801,035 (GRCm39)	F388L	probably damaging	Het
Brca2	T	G	5: 150,465,573 (GRCm39)	V1779G	possibly damaging	Het
Cblb	T	A	16: 51,932,483 (GRCm39)	S147T	probably damaging	Het
Cblc	T	C	7: 19,519,233 (GRCm39)	E409G	probably benign	Het
Cdc34b	C	T	11: 94,632,886 (GRCm39)	R29W	probably damaging	Het
Clic6	T	A	16: 92,324,954 (GRCm39)	Y371N	probably benign	Het
Col5a2	A	G	1: 45,425,991 (GRCm39)		probably null	Het
Coro1a	A	T	7: 126,302,221 (GRCm39)	V42D	probably damaging	Het
Cpa3	C	T	3: 20,281,387 (GRCm39)	C173Y	probably damaging	Het
Crb1	A	C	1: 139,170,756 (GRCm39)	V817G	probably damaging	Het
Cyp2c39	A	G	19: 39,549,378 (GRCm39)	T299A	possibly damaging	Het
Dock5	G	A	14: 68,029,738 (GRCm39)	R1019C	probably benign	Het
Exoc8	T	C	8: 125,622,952 (GRCm39)	T472A	probably benign	Het
Fancc	A	G	13: 63,469,679 (GRCm39)		probably null	Het
Fcgbpl1	T	A	7: 27,852,733 (GRCm39)	M1340K	probably benign	Het
Inpp5d	T	C	1: 87,604,064 (GRCm39)	L244P	probably damaging	Het
Ireb2	A	G	9: 54,799,831 (GRCm39)	N424S	probably benign	Het
Krt35	T	C	11: 99,984,875 (GRCm39)	D261G	probably damaging	Het
Lipc	T	A	9: 70,720,192 (GRCm39)	I272L	probably benign	Het
Lpcat3	A	G	6: 124,676,357 (GRCm39)		probably benign	Het
Lzts1	T	C	8: 69,591,236 (GRCm39)	D304G	probably benign	Het
Mdn1	A	G	4: 32,774,008 (GRCm39)	I5540V	possibly damaging	Het
Msln	T	C	17: 25,970,563 (GRCm39)	S231G	probably benign	Het
Mup8	G	A	4: 60,221,062 (GRCm39)	T101M	probably benign	Het
Myh8	T	C	11: 67,179,179 (GRCm39)	I524T	probably damaging	Het
Pappa2	A	G	1: 158,589,189 (GRCm39)	C1679R	probably damaging	Het
Pcdhb1	T	C	18: 37,399,416 (GRCm39)	S456P	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,719 (GRCm39)	N389S	probably benign	Het
Pitrm1	C	A	13: 6,617,507 (GRCm39)	S620R	probably benign	Het
Plod3	T	A	5: 137,023,932 (GRCm39)		probably benign	Het
Por	A	T	5: 135,759,771 (GRCm39)	Q194L	probably benign	Het
Prkag3	A	T	1: 74,780,646 (GRCm39)	Y396N	probably damaging	Het
R3hcc1	T	C	14: 69,935,053 (GRCm39)		probably null	Het
Rcan3	C	T	4: 135,152,592 (GRCm39)	S43N	probably damaging	Het
Rhot1	A	G	11: 80,111,098 (GRCm39)	T31A	probably damaging	Het
Rnps1	T	G	17: 24,637,486 (GRCm39)	S43A	unknown	Het
Rp1	T	C	1: 4,416,426 (GRCm39)	D1562G	possibly damaging	Het
Rps19-ps13	A	G	18: 40,859,428 (GRCm39)		noncoding transcript	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Smc2	G	A	4: 52,460,181 (GRCm39)	R519Q	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Sptbn2	A	G	19: 4,787,885 (GRCm39)	T955A	probably benign	Het
Stfa3	T	C	16: 36,272,581 (GRCm39)	K40E	probably damaging	Het
Tmem87b	A	G	2: 128,666,378 (GRCm39)	E75G	probably benign	Het
Tmprss15	T	C	16: 78,800,298 (GRCm39)	Q595R	probably benign	Het
Trak1	A	T	9: 121,289,478 (GRCm39)	I597F	probably damaging	Het
Trat1	T	C	16: 48,555,300 (GRCm39)	D144G	probably damaging	Het
Trim25	T	C	11: 88,890,358 (GRCm39)	V15A	probably benign	Het
Tulp1	A	C	17: 28,578,034 (GRCm39)		probably null	Het
Txndc15	T	A	13: 55,865,734 (GRCm39)	M66K	probably benign	Het
Vmn1r206	T	A	13: 22,804,775 (GRCm39)	N144I	probably damaging	Het
Wwc2	T	C	8: 48,353,796 (GRCm39)	T113A	probably benign	Het
Xpo5	A	C	17: 46,528,535 (GRCm39)	E313D	probably damaging	Het
Zfp790	C	T	7: 29,529,192 (GRCm39)	H626Y	probably benign	Het

Other mutations in 9930111J21Rik1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:9930111J21Rik1	APN	11	48,839,039 (GRCm39)	missense	possibly damaging	0.66
IGL02189:9930111J21Rik1	APN	11	48,838,248 (GRCm39)	missense	probably benign	0.09
IGL02554:9930111J21Rik1	APN	11	48,838,830 (GRCm39)	missense	probably damaging	1.00
IGL03172:9930111J21Rik1	APN	11	48,839,003 (GRCm39)	missense	probably damaging	1.00
IGL03334:9930111J21Rik1	APN	11	48,838,302 (GRCm39)	missense	probably benign	0.09
R0502:9930111J21Rik1	UTSW	11	48,838,322 (GRCm39)	missense	possibly damaging	0.69
R0503:9930111J21Rik1	UTSW	11	48,838,322 (GRCm39)	missense	possibly damaging	0.69
R2023:9930111J21Rik1	UTSW	11	48,839,247 (GRCm39)	missense	possibly damaging	0.51
R3704:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R3705:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R3714:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R3715:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R3961:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R3962:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R4867:9930111J21Rik1	UTSW	11	48,839,375 (GRCm39)	critical splice acceptor site	probably null
R5033:9930111J21Rik1	UTSW	11	48,838,533 (GRCm39)	missense	probably damaging	1.00
R6567:9930111J21Rik1	UTSW	11	48,838,950 (GRCm39)	missense	probably benign	0.26
R6774:9930111J21Rik1	UTSW	11	48,838,143 (GRCm39)	missense	possibly damaging	0.94
R7730:9930111J21Rik1	UTSW	11	48,838,703 (GRCm39)	missense	probably benign	0.19
R7863:9930111J21Rik1	UTSW	11	48,838,101 (GRCm39)	missense	probably benign	0.18
R8408:9930111J21Rik1	UTSW	11	48,838,829 (GRCm39)	missense	probably damaging	1.00
R9381:9930111J21Rik1	UTSW	11	48,839,204 (GRCm39)	missense	probably damaging	1.00
R9400:9930111J21Rik1	UTSW	11	48,839,244 (GRCm39)	missense	possibly damaging	0.82
R9493:9930111J21Rik1	UTSW	11	48,838,191 (GRCm39)	missense	probably damaging	1.00
R9560:9930111J21Rik1	UTSW	11	48,839,082 (GRCm39)	missense	probably damaging	1.00
R9574:9930111J21Rik1	UTSW	11	48,838,496 (GRCm39)	missense	probably damaging	1.00
R9687:9930111J21Rik1	UTSW	11	48,839,249 (GRCm39)	missense	probably damaging	1.00
X0067:9930111J21Rik1	UTSW	11	48,838,869 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGCAATGTTCAGTGGGG -3'
(R):5'- CTGAATGAGGGCATGCGGC -3'

Sequencing Primer
(F):5'- GCTCAGAGCATGACTAATTTCAGAC -3'
(R):5'- CGGCATGCAGAGCAGAGATG -3'

Posted On

2016-06-21