Mutagenetix > Incidental Mutation

Incidental Mutation 'R3705:9930111J21Rik1'

258718

Institutional Source

Beutler Lab

Gene Symbol

9930111J21Rik1

Ensembl Gene

ENSMUSG00000069893

Gene Name

RIKEN cDNA 9930111J21 gene 1

Synonyms

9930111J21Rik

MMRRC Submission

040698-MU

Accession Numbers

Essential gene?

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

Stock #

R3705 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

48836977-48870208 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48838803 bp (GRCm39)

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,324,864 (GRCm39)	D1538G	probably damaging	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 135,968,552 (GRCm39)		probably benign	Het
Bcap29	T	C	12: 31,667,151 (GRCm39)	H170R	probably benign	Het
Bltp1	T	A	3: 37,041,730 (GRCm39)	C2703S	probably damaging	Het
Brwd3	A	G	X: 107,804,021 (GRCm39)		probably benign	Het
Capn1	T	C	19: 6,057,401 (GRCm39)	E349G	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Csf3r	A	G	4: 125,926,078 (GRCm39)	D221G	possibly damaging	Het
Cubn	T	A	2: 13,355,754 (GRCm39)	H1826L	probably damaging	Het
Dnajc19	A	G	3: 34,134,378 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,607,020 (GRCm39)	V2566I	possibly damaging	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Fam133b	T	C	5: 3,611,034 (GRCm39)		probably benign	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Gpnmb	T	A	6: 49,028,799 (GRCm39)	I439N	possibly damaging	Het
Grm1	G	A	10: 10,658,473 (GRCm39)	T339I	possibly damaging	Het
Gtpbp3	T	G	8: 71,944,779 (GRCm39)	S345A	probably benign	Het
Hdac4	A	G	1: 91,862,416 (GRCm39)		probably benign	Het
Hfm1	A	G	5: 107,040,705 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,418,781 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,896,147 (GRCm39)	N1473S	probably benign	Het
Jak3	A	G	8: 72,134,166 (GRCm39)	K423E	probably damaging	Het
Kifc3	G	A	8: 95,830,656 (GRCm39)		probably benign	Het
Lrrc8d	T	C	5: 105,961,341 (GRCm39)	S584P	probably damaging	Het
Nipal4	T	C	11: 46,052,678 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,702 (GRCm39)		probably benign	Het
Nmur2	T	C	11: 55,931,300 (GRCm39)	Y137C	probably damaging	Het
Nod2	T	C	8: 89,379,948 (GRCm39)	S150P	probably benign	Het
Or5w22	A	G	2: 87,362,412 (GRCm39)	I12V	probably benign	Het
Pdgfc	T	C	3: 81,111,751 (GRCm39)		probably null	Het
Phldb1	G	T	9: 44,605,691 (GRCm39)	H1323N	probably damaging	Het
Ppp1r14c	A	G	10: 3,373,524 (GRCm39)	I112V	possibly damaging	Het
Pramel26	T	C	4: 143,538,345 (GRCm39)	T209A	probably benign	Het
Rcc1l	A	T	5: 134,183,030 (GRCm39)	V414E	probably damaging	Het
Riok3	A	G	18: 12,282,011 (GRCm39)	M327V	probably benign	Het
Sf3b4	T	C	3: 96,083,944 (GRCm39)		probably benign	Het
Spag6	A	G	2: 18,715,368 (GRCm39)	Y49C	probably damaging	Het
Syngap1	T	C	17: 27,178,994 (GRCm39)	S495P	probably damaging	Het
Tedc2	A	G	17: 24,435,361 (GRCm39)	S343P	probably benign	Het
Tenm2	T	A	11: 35,959,153 (GRCm39)	D1132V	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Top1	G	A	2: 160,544,744 (GRCm39)		probably null	Het
Tox3	G	T	8: 90,975,533 (GRCm39)	T366K	possibly damaging	Het
Tph2	G	A	10: 114,955,798 (GRCm39)	Q332*	probably null	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	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
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
R5159:9930111J21Rik1	UTSW	11	48,839,352 (GRCm39)	missense	probably benign	0.06
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'- TCATGAAGAGGTGGCGCTTG -3'
(R):5'- ACAATATGGGATTTGCCTGGC -3'

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

Posted On

2015-01-23