Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03226:9930012K11Rik'

414839

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9930012K11Rik

Ensembl Gene

ENSMUSG00000044551

Gene Name

RIKEN cDNA 9930012K11 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03226

Quality Score

Status

Chromosome

Chromosomal Location

70391854-70396951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70395058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 32 (V32A)

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: V32A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061834
Gene: ENSMUSG00000044551
AA Change: V32A

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 damaging
Transcript: ENSMUST00000153871
AA Change: V32A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122309
Gene: ENSMUSG00000044551
AA Change: V32A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	T	C	1: 59,225,679 (GRCm39)	T944A	probably benign	Het
Bcat2	T	A	7: 45,237,778 (GRCm39)	V348E	probably damaging	Het
Bnip2	A	G	9: 69,903,456 (GRCm39)	D36G	probably benign	Het
C2cd5	T	A	6: 143,018,292 (GRCm39)	D310V	possibly damaging	Het
Cltc	G	A	11: 86,611,113 (GRCm39)	T582M	probably damaging	Het
Cplx3	A	T	9: 57,517,290 (GRCm39)	Y365N	probably benign	Het
Dync2h1	T	C	9: 7,125,918 (GRCm39)	H1896R	probably benign	Het
Efcab5	T	C	11: 77,028,501 (GRCm39)	R413G	possibly damaging	Het
Fam131b	C	T	6: 42,295,888 (GRCm39)	M169I	possibly damaging	Het
Fam241b	A	G	10: 61,945,671 (GRCm39)	S52P	probably benign	Het
Gpd2	G	A	2: 57,194,498 (GRCm39)		probably null	Het
Gucy1a1	T	A	3: 82,026,331 (GRCm39)	Q41L	probably benign	Het
Ifna16	T	C	4: 88,594,741 (GRCm39)	D118G	probably benign	Het
Kcnn1	T	C	8: 71,299,135 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Lyst	A	T	13: 13,884,144 (GRCm39)	H2984L	probably benign	Het
Myh7b	C	T	2: 155,462,403 (GRCm39)	Q369*	probably null	Het
Nalcn	A	C	14: 123,518,527 (GRCm39)	W1671G	probably benign	Het
Ndrg2	G	A	14: 52,144,026 (GRCm39)		probably benign	Het
Nfia	C	A	4: 97,951,286 (GRCm39)	P371Q	probably damaging	Het
Or10d5	A	C	9: 39,861,719 (GRCm39)		probably null	Het
Pcdhb22	A	G	18: 37,652,009 (GRCm39)	D159G	probably damaging	Het
Plekhm3	A	T	1: 64,960,959 (GRCm39)	D432E	possibly damaging	Het
Pramel17	T	A	4: 101,692,594 (GRCm39)	T469S	probably benign	Het
Rab2a	A	G	4: 8,606,448 (GRCm39)	N195S	probably benign	Het
Sbf1	A	G	15: 89,173,308 (GRCm39)	Y1764H	possibly damaging	Het
Scap	A	G	9: 110,213,335 (GRCm39)	T1127A	possibly damaging	Het
Shld2	T	C	14: 33,990,328 (GRCm39)	T193A	probably benign	Het
Slc45a2	A	G	15: 11,022,278 (GRCm39)	D340G	probably damaging	Het
Tbc1d23	A	T	16: 57,034,625 (GRCm39)	L58Q	probably damaging	Het
Tmcc1	T	C	6: 116,110,937 (GRCm39)	T119A	probably damaging	Het
Tnfsf10	C	A	3: 27,389,597 (GRCm39)	Y219*	probably null	Het
Traip	G	A	9: 107,848,192 (GRCm39)	R437Q	probably damaging	Het
Tyw3	T	C	3: 154,293,187 (GRCm39)	T163A	possibly damaging	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
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
R4546:9930012K11Rik	UTSW	14	70,393,927 (GRCm39)	missense	probably benign	0.22
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

Posted On

2016-08-02