Mutagenetix > Incidental Mutation

Incidental Mutation 'R4846:9930012K11Rik'

372189

Institutional Source

Beutler Lab

Gene Symbol

9930012K11Rik

Ensembl Gene

ENSMUSG00000044551

Gene Name

RIKEN cDNA 9930012K11 gene

Synonyms

MMRRC Submission

042459-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70154405-70159502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70155943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 299 (H299L)

Ref Sequence

ENSEMBL: ENSMUSP00000122309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035612] [ENSMUST00000058240] [ENSMUST00000129767] [ENSMUST00000153871]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035612

SMART Domains

Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:S1-like	55	112	1.3e-29	PFAM
DBC1	339	462	8.48e-73	SMART
low complexity region	496	507	N/A	INTRINSIC
low complexity region	534	545	N/A	INTRINSIC
low complexity region	563	601	N/A	INTRINSIC
low complexity region	627	640	N/A	INTRINSIC
low complexity region	647	660	N/A	INTRINSIC
SCOP:d2mysb_	703	747	2e-3	SMART
Blast:HDc	704	758	7e-7	BLAST
coiled coil region	828	898	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000058240
AA Change: H300L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061834
Gene: ENSMUSG00000044551
AA Change: H300L

Domain	Start	End	E-Value	Type
Pfam:DUF4657	78	366	1e-142	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000129767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140314

Predicted Effect

probably damaging
Transcript: ENSMUST00000153871
AA Change: H299L

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

SMART Domains

Protein: ENSMUSP00000122309
Gene: ENSMUSG00000044551
AA Change: H299L

Domain	Start	End	E-Value	Type
Pfam:DUF4657	78	365	1.4e-132	PFAM

Meta Mutation Damage Score

0.0922

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,233	D591G	probably benign	Het
Abcb4	C	T	5: 8,935,180	A687V	probably benign	Het
Adam20	A	G	8: 40,795,011	T53A	probably benign	Het
Afg1l	G	A	10: 42,454,494	T59I	probably benign	Het
AI837181	A	G	19: 5,426,301	Q164R	probably benign	Het
Anapc15	T	A	7: 101,897,767	I12N	probably benign	Het
Ankrd55	A	C	13: 112,363,454	E278D	probably benign	Het
Axin2	A	G	11: 108,942,299	T437A	probably benign	Het
BC051665	T	C	13: 60,784,081	D168G	probably damaging	Het
Btbd11	A	G	10: 85,629,266	T657A	probably damaging	Het
Cd200	C	T	16: 45,392,301	R261H	probably benign	Het
Clk1	G	A	1: 58,421,102	S123L	probably benign	Het
Csrnp2	A	T	15: 100,484,690	D156E	probably damaging	Het
Ctss	C	T	3: 95,545,384	Q159*	probably null	Het
Dip2a	A	G	10: 76,321,493	S93P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Ephb6	G	A	6: 41,616,809	R542Q	probably benign	Het
Fmo3	T	C	1: 162,954,311	D491G	possibly damaging	Het
Galnt14	A	T	17: 73,536,893	M140K	probably benign	Het
Ghsr	T	C	3: 27,371,837	V14A	probably benign	Het
Gm17546	C	A	15: 95,829,962		probably benign	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Hc	A	G	2: 35,019,670	V866A	probably benign	Het
Hoxb6	G	A	11: 96,299,522	G116R	probably damaging	Het
Hykk	A	G	9: 54,920,606	Y43C	probably damaging	Het
Jade2	T	C	11: 51,821,148	T495A	probably benign	Het
Kansl1	A	T	11: 104,342,972	V755E	possibly damaging	Het
Lrp2	T	A	2: 69,479,113	D2814V	probably damaging	Het
Mbd5	T	A	2: 49,256,997	N406K	probably damaging	Het
Met	A	T	6: 17,491,929	D230V	probably damaging	Het
Mrgprx2	A	T	7: 48,482,836	V78D	probably damaging	Het
Mrpl20	A	G	4: 155,808,536	T112A	possibly damaging	Het
Nek11	T	A	9: 105,163,163	E566D	probably damaging	Het
Nostrin	T	C	2: 69,175,579	S235P	probably damaging	Het
Npas4	C	A	19: 4,986,777	S453I	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Psg18	A	T	7: 18,350,786	Y128*	probably null	Het
Ptges3l	A	T	11: 101,419,184		probably benign	Het
Pus1	T	C	5: 110,779,930		probably benign	Het
Raf1	T	A	6: 115,644,583	S12C	possibly damaging	Het
Rps6-ps2	T	G	8: 88,806,578		noncoding transcript	Het
Slc5a4b	A	G	10: 76,062,239	L547P	probably damaging	Het
Socs3	A	G	11: 117,967,828	S135P	probably benign	Het
St5	C	A	7: 109,556,836	E236*	probably null	Het
Stra6l	G	A	4: 45,873,682	V281M	possibly damaging	Het
Suco	G	A	1: 161,834,408	T818I	possibly damaging	Het
Syde1	A	T	10: 78,588,897	V367D	probably damaging	Het
Tet3	A	T	6: 83,376,883	L932*	probably null	Het
Trpm7	G	A	2: 126,813,185	L1278F	possibly damaging	Het
Vmn1r168	A	T	7: 23,541,065	T116S	probably damaging	Het
Wfdc6b	A	G	2: 164,617,294	Q92R	possibly damaging	Het

Other mutations in 9930012K11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02673:9930012K11Rik	APN	14	70157607	missense	probably benign	0.21
IGL03226:9930012K11Rik	APN	14	70157609	missense	probably damaging	0.97
R0125:9930012K11Rik	UTSW	14	70156647	splice site	probably benign
R0544:9930012K11Rik	UTSW	14	70157314	missense	probably benign	0.00
R1630:9930012K11Rik	UTSW	14	70157180	missense	probably benign	0.17
R4546:9930012K11Rik	UTSW	14	70156478	missense	probably benign	0.22
R4822:9930012K11Rik	UTSW	14	70156458	missense	probably benign	0.12
R5211:9930012K11Rik	UTSW	14	70156784	missense	probably benign	0.00
R6860:9930012K11Rik	UTSW	14	70157622	missense	possibly damaging	0.74
R7286:9930012K11Rik	UTSW	14	70157237	missense	possibly damaging	0.77
R7319:9930012K11Rik	UTSW	14	70156186	missense	probably benign
R7948:9930012K11Rik	UTSW	14	70157366	frame shift	probably null
R8024:9930012K11Rik	UTSW	14	70156667	missense	probably damaging	1.00
R8099:9930012K11Rik	UTSW	14	70157520	missense	probably benign	0.01
R9013:9930012K11Rik	UTSW	14	70156727	missense	probably damaging	0.99
R9159:9930012K11Rik	UTSW	14	70156789	missense	probably benign	0.03
R9308:9930012K11Rik	UTSW	14	70156414	critical splice donor site	probably null
R9794:9930012K11Rik	UTSW	14	70157589	missense	possibly damaging	0.88
X0064:9930012K11Rik	UTSW	14	70156772	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCATCTTAACTACAAGACAGGAC -3'
(R):5'- CCAGGAACCCAAGGTAGTGATG -3'

Sequencing Primer
(F):5'- TCTTAACTACAAGACAGGACACTAC -3'
(R):5'- CCCAAGGTAGTGATGGATATATGTG -3'

Posted On

2016-03-01