Mutagenetix > Incidental Mutation

Incidental Mutation 'R4546:9930012K11Rik'

333789

Institutional Source

Beutler Lab

Gene Symbol

9930012K11Rik

Ensembl Gene

ENSMUSG00000044551

Gene Name

RIKEN cDNA 9930012K11 gene

Synonyms

MMRRC Submission

041780-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70391854-70396951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70393927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 236 (S236L)

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 benign
Transcript: ENSMUST00000058240
AA Change: S236L

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061834
Gene: ENSMUSG00000044551
AA Change: S236L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140314

Predicted Effect

probably benign
Transcript: ENSMUST00000153871
AA Change: S236L

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122309
Gene: ENSMUSG00000044551
AA Change: S236L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl	C	T	16: 45,974,330 (GRCm39)	C349Y	possibly damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Alpi	T	A	1: 87,026,839 (GRCm39)	Y413F	probably damaging	Het
Asmt	T	C	X: 169,110,230 (GRCm39)		probably null	Het
Atf7	A	G	15: 102,442,762 (GRCm39)	V449A	probably benign	Het
Bnc2	A	G	4: 84,210,213 (GRCm39)	F744L	probably benign	Het
Ccnyl1	G	T	1: 64,762,735 (GRCm39)	M347I	probably benign	Het
Cdk13	T	C	13: 17,941,159 (GRCm39)	K21R	probably damaging	Het
Cenpf	A	C	1: 189,386,847 (GRCm39)	L1811R	probably damaging	Het
Cfap91	C	T	16: 38,155,885 (GRCm39)	V113I	probably benign	Het
Cr2	A	G	1: 194,853,349 (GRCm39)	I43T	possibly damaging	Het
Cspg4	T	A	9: 56,795,913 (GRCm39)	L1216Q	possibly damaging	Het
Cylc2	A	T	4: 51,229,840 (GRCm39)	D394V	unknown	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Dcaf8	T	C	1: 172,007,460 (GRCm39)		probably benign	Het
Dlec1	A	T	9: 118,957,146 (GRCm39)	I796F	probably damaging	Het
Dnah12	A	T	14: 26,494,971 (GRCm39)	Q1343L	probably damaging	Het
Dnajc21	T	C	15: 10,447,183 (GRCm39)	R522G	probably benign	Het
F2rl3	C	T	8: 73,489,211 (GRCm39)	A146V	probably benign	Het
Fastkd1	C	T	2: 69,542,655 (GRCm39)	E51K	probably damaging	Het
Glrb	T	C	3: 80,786,993 (GRCm39)	S57G	probably damaging	Het
Gm5507	T	A	18: 54,117,409 (GRCm39)		noncoding transcript	Het
Golga4	A	G	9: 118,385,913 (GRCm39)	K22E	probably damaging	Het
Hdac1-ps	A	T	17: 78,800,388 (GRCm39)	T460S	probably benign	Het
Ift122	T	A	6: 115,867,549 (GRCm39)	L433Q	probably damaging	Het
Il21r	A	G	7: 125,228,071 (GRCm39)	R181G	probably damaging	Het
Il5ra	G	T	6: 106,715,459 (GRCm39)	S125*	probably null	Het
Kdm7a	T	C	6: 39,152,406 (GRCm39)	R97G	probably benign	Het
Lepr	T	A	4: 101,671,838 (GRCm39)	I954N	probably benign	Het
Lims1	T	C	10: 58,254,612 (GRCm39)		probably benign	Het
Mest	T	C	6: 30,740,679 (GRCm39)	W13R	probably damaging	Het
Mfn2	A	G	4: 147,971,909 (GRCm39)	V224A	probably benign	Het
Muc15	T	C	2: 110,567,844 (GRCm39)	S330P	probably damaging	Het
Ncapg	T	C	5: 45,828,554 (GRCm39)	F102L	probably damaging	Het
Nkd2	T	C	13: 73,971,475 (GRCm39)	D187G	probably benign	Het
Nphp1	C	T	2: 127,607,939 (GRCm39)		probably null	Het
Or10ag59	T	C	2: 87,405,530 (GRCm39)	F34S	probably benign	Het
Or1e19	T	C	11: 73,316,012 (GRCm39)	N266D	probably benign	Het
Or2a12	C	T	6: 42,904,348 (GRCm39)	S61L	probably damaging	Het
Osbpl6	T	C	2: 76,414,836 (GRCm39)	V409A	possibly damaging	Het
Pdhx	A	T	2: 102,903,742 (GRCm39)	L18Q	probably null	Het
Pear1	C	T	3: 87,661,968 (GRCm39)	G469D	probably damaging	Het
Plec	T	C	15: 76,065,757 (GRCm39)	T1506A	probably benign	Het
Plod3	T	A	5: 137,017,801 (GRCm39)	D192E	possibly damaging	Het
Rbks	T	C	5: 31,781,912 (GRCm39)	N296S	probably benign	Het
Sema3c	G	A	5: 17,899,770 (GRCm39)	V421I	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Tmem200c	A	G	17: 69,149,166 (GRCm39)	D583G	probably benign	Het
Trpm6	A	G	19: 18,809,841 (GRCm39)	Y1079C	probably damaging	Het
Ttn	T	C	2: 76,652,932 (GRCm39)		probably null	Het
Vcp	T	C	4: 42,988,813 (GRCm39)		probably benign	Het
Vmn2r78	T	C	7: 86,603,811 (GRCm39)	V663A	probably damaging	Het
Vmn2r9	T	G	5: 108,995,551 (GRCm39)	M366L	probably benign	Het
Wdr11	A	G	7: 129,230,729 (GRCm39)	E878G	probably damaging	Het
Zan	C	G	5: 137,382,096 (GRCm39)	M5150I	unknown	Het

Other mutations in 9930012K11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02673:9930012K11Rik	APN	14	70,395,056 (GRCm39)	missense	probably benign	0.21
IGL03226:9930012K11Rik	APN	14	70,395,058 (GRCm39)	missense	probably damaging	0.97
R0125:9930012K11Rik	UTSW	14	70,394,096 (GRCm39)	splice site	probably benign
R0544:9930012K11Rik	UTSW	14	70,394,763 (GRCm39)	missense	probably benign	0.00
R1630:9930012K11Rik	UTSW	14	70,394,629 (GRCm39)	missense	probably benign	0.17
R4822:9930012K11Rik	UTSW	14	70,393,907 (GRCm39)	missense	probably benign	0.12
R4846:9930012K11Rik	UTSW	14	70,393,392 (GRCm39)	missense	probably damaging	1.00
R5211:9930012K11Rik	UTSW	14	70,394,233 (GRCm39)	missense	probably benign	0.00
R6860:9930012K11Rik	UTSW	14	70,395,071 (GRCm39)	missense	possibly damaging	0.74
R7286:9930012K11Rik	UTSW	14	70,394,686 (GRCm39)	missense	possibly damaging	0.77
R7319:9930012K11Rik	UTSW	14	70,393,635 (GRCm39)	missense	probably benign
R7948:9930012K11Rik	UTSW	14	70,394,815 (GRCm39)	frame shift	probably null
R8024:9930012K11Rik	UTSW	14	70,394,116 (GRCm39)	missense	probably damaging	1.00
R8099:9930012K11Rik	UTSW	14	70,394,969 (GRCm39)	missense	probably benign	0.01
R9013:9930012K11Rik	UTSW	14	70,394,176 (GRCm39)	missense	probably damaging	0.99
R9159:9930012K11Rik	UTSW	14	70,394,238 (GRCm39)	missense	probably benign	0.03
R9308:9930012K11Rik	UTSW	14	70,393,863 (GRCm39)	critical splice donor site	probably null
R9794:9930012K11Rik	UTSW	14	70,395,038 (GRCm39)	missense	possibly damaging	0.88
X0064:9930012K11Rik	UTSW	14	70,394,221 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTGCACCTTCTGAAAGAGAACTAC -3'
(R):5'- CCTCTAGGGTGAGTGATGTACAG -3'

Sequencing Primer
(F):5'- GAGAACTACATCATCTGGGGCC -3'
(R):5'- ATGTACAGGTGCAGGTGGCC -3'

Posted On

2015-08-18