Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01738:4933405L10Rik'

105761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933405L10Rik

Ensembl Gene

ENSMUSG00000013158

Gene Name

RIKEN cDNA 4933405L10 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

105707655-105710246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105710036 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 288 (D288V)

Ref Sequence

ENSEMBL: ENSMUSP00000013302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013294] [ENSMUST00000013299] [ENSMUST00000013302] [ENSMUST00000211852] [ENSMUST00000212061]

Predicted Effect

probably benign
Transcript: ENSMUST00000013294

SMART Domains

Protein: ENSMUSP00000013294
Gene: ENSMUSG00000013150

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	6	119	3.7e-14	PFAM
low complexity region	169	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000013299

SMART Domains

Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

Domain	Start	End	E-Value	Type
low complexity region	220	236	N/A	INTRINSIC
Pfam:Enkurin	243	339	6.3e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000013302
AA Change: D288V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000013302
Gene: ENSMUSG00000013158
AA Change: D288V

Domain	Start	End	E-Value	Type
Pfam:DUF4691	1	162	3.3e-71	PFAM
low complexity region	200	216	N/A	INTRINSIC
low complexity region	252	275	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211852
AA Change: D279V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212716

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	G	A	13: 30,381,038	V29I	probably benign	Het
Akap6	G	T	12: 52,886,817	C364F	probably damaging	Het
Calcrl	T	G	2: 84,370,449	M84L	probably benign	Het
Cep128	C	A	12: 91,230,842	G402C	probably damaging	Het
Cfap43	A	G	19: 47,797,185	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,375,617		probably benign	Het
Col27a1	A	G	4: 63,263,779		probably benign	Het
Cyp3a44	A	G	5: 145,794,935	S134P	probably damaging	Het
Dync2h1	A	C	9: 7,114,922	L179R	possibly damaging	Het
Ell	T	A	8: 70,581,681		probably null	Het
Gfm1	A	G	3: 67,456,661	E490G	probably benign	Het
Glt1d1	T	G	5: 127,632,355		probably benign	Het
Gm10267	A	T	18: 44,159,275	I10K	possibly damaging	Het
Htra4	A	G	8: 25,025,711	V437A	probably damaging	Het
Ighv1-69	T	C	12: 115,623,441	Q24R	possibly damaging	Het
Igkv14-111	G	A	6: 68,256,459		probably benign	Het
Ipcef1	A	T	10: 6,890,575	I374N	probably damaging	Het
Iqgap1	T	C	7: 80,723,900	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,737,241	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,570,645	F126L	probably damaging	Het
Myo1e	A	G	9: 70,359,370	K631E	probably damaging	Het
Olfr902	A	C	9: 38,449,646	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,433,780		probably benign	Het
Serpina3b	T	G	12: 104,130,832	L124R	probably damaging	Het
Srgap2	T	C	1: 131,296,426	I95V	probably benign	Het
Sstr5	A	T	17: 25,491,610	I215N	probably damaging	Het
Top3b	G	A	16: 16,880,604	V104M	probably benign	Het
Tspan8	G	A	10: 115,817,665		probably null	Het
Vmn2r102	A	G	17: 19,677,758	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,429,498	G472S	probably damaging	Het
Zmpste24	A	T	4: 121,061,111	L438Q	probably damaging	Het

Other mutations in 4933405L10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:4933405L10Rik	APN	8	105708935	missense	probably benign
R0096:4933405L10Rik	UTSW	8	105708931	splice site	probably null
R0096:4933405L10Rik	UTSW	8	105708931	splice site	probably null
R0396:4933405L10Rik	UTSW	8	105709780	missense	probably benign	0.06
R0711:4933405L10Rik	UTSW	8	105708931	splice site	probably null
R1037:4933405L10Rik	UTSW	8	105709512	missense	probably benign	0.32
R1816:4933405L10Rik	UTSW	8	105709859	missense	possibly damaging	0.50
R1843:4933405L10Rik	UTSW	8	105708974	missense	probably damaging	0.98
R4332:4933405L10Rik	UTSW	8	105709724	missense	possibly damaging	0.92
R4868:4933405L10Rik	UTSW	8	105710097	makesense	probably null
R5072:4933405L10Rik	UTSW	8	105709569	missense	possibly damaging	0.71
R5285:4933405L10Rik	UTSW	8	105708465	missense	probably benign
R5656:4933405L10Rik	UTSW	8	105709512	missense	probably benign	0.32
R6196:4933405L10Rik	UTSW	8	105709922	missense	possibly damaging	0.92
R6524:4933405L10Rik	UTSW	8	105709009	missense	possibly damaging	0.71
R6657:4933405L10Rik	UTSW	8	105708818	missense	probably damaging	0.98
Z1088:4933405L10Rik	UTSW	8	105709763	missense	probably damaging	1.00
Z1177:4933405L10Rik	UTSW	8	105709973	missense	possibly damaging	0.91
Z1177:4933405L10Rik	UTSW	8	105709975	missense	possibly damaging	0.73

Posted On

2014-01-21