Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01526:4933430I17Rik'

89556

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933430I17Rik

Ensembl Gene

ENSMUSG00000058046

Gene Name

RIKEN cDNA 4933430I17 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01526

Quality Score

Status

Chromosome

Chromosomal Location

62525369-62547993 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62532621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 107 (R107L)

Ref Sequence

ENSEMBL: ENSMUSP00000050465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062145]

AlphaFold

Q8BHW4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062145
AA Change: R107L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046
AA Change: R107L

Domain	Start	End	E-Value	Type
Pfam:DUF4647	22	481	7.3e-182	PFAM

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
1500002C15Rik	G	T	4: 155,734,171		probably benign	Het
9130204L05Rik	T	A	3: 91,088,305		probably benign	Het
Acvr1	A	T	2: 58,458,985	D388E	probably benign	Het
Art3	T	C	5: 92,414,340	S354P	probably damaging	Het
Bpnt1	C	A	1: 185,345,394	S102*	probably null	Het
C530008M17Rik	T	A	5: 76,857,631	M613K	unknown	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Cfap65	A	T	1: 74,911,078	S1171T	probably damaging	Het
Csn2	T	C	5: 87,694,979	H47R	possibly damaging	Het
Gm14496	T	A	2: 181,995,665	D177E	probably benign	Het
Hmbs	A	G	9: 44,339,548	V126A	possibly damaging	Het
Ica1l	A	G	1: 60,015,757	M105T	probably damaging	Het
Morc2a	G	A	11: 3,650,428	E17K	probably benign	Het
Mroh8	T	C	2: 157,238,312		probably benign	Het
Mroh9	G	T	1: 163,055,603	L436I	probably damaging	Het
Nup54	T	C	5: 92,417,475	D461G	probably benign	Het
Olfr1123	A	T	2: 87,418,975	D309V	probably damaging	Het
Olfr315	A	G	11: 58,778,297	T57A	probably benign	Het
Pcid2	G	A	8: 13,085,319		probably benign	Het
Ppp1r3b	G	T	8: 35,384,718	R237L	probably benign	Het
Prdm11	A	G	2: 93,012,757	V119A	probably damaging	Het
Serpina5	T	A	12: 104,101,890	V70E	probably damaging	Het
Skap2	C	T	6: 51,907,914	D249N	probably benign	Het
Slc22a29	A	T	19: 8,207,178		probably benign	Het
Slc4a1ap	C	A	5: 31,528,227	T283K	possibly damaging	Het
Slc6a21	T	G	7: 45,287,796	I575S	probably damaging	Het
Smpd1	T	G	7: 105,554,775	W82G	probably benign	Het
Snx14	T	A	9: 88,381,500	M897L	probably damaging	Het
Tjp1	A	G	7: 65,322,658	V586A	probably damaging	Het
Tmc8	T	C	11: 117,792,084		probably benign	Het
Trim34a	A	G	7: 104,260,499	Y298C	probably damaging	Het
Ube3c	T	C	5: 29,667,962	V1000A	probably damaging	Het

Other mutations in 4933430I17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:4933430I17Rik	APN	4	62532666	splice site	probably benign
IGL00326:4933430I17Rik	APN	4	62543744	splice site	probably null
IGL02152:4933430I17Rik	APN	4	62542754	missense	possibly damaging	0.93
IGL03153:4933430I17Rik	APN	4	62547326	missense	possibly damaging	0.85
R0281:4933430I17Rik	UTSW	4	62546067	nonsense	probably null
R0436:4933430I17Rik	UTSW	4	62543445	splice site	probably benign
R1459:4933430I17Rik	UTSW	4	62532341	missense	probably damaging	0.99
R1807:4933430I17Rik	UTSW	4	62542756	nonsense	probably null
R1930:4933430I17Rik	UTSW	4	62532282	missense	possibly damaging	0.83
R1958:4933430I17Rik	UTSW	4	62538909	missense	probably benign	0.09
R2118:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R2119:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R2124:4933430I17Rik	UTSW	4	62538872	missense	possibly damaging	0.93
R4323:4933430I17Rik	UTSW	4	62547311	missense	probably damaging	0.98
R4592:4933430I17Rik	UTSW	4	62538927	missense	possibly damaging	0.93
R5708:4933430I17Rik	UTSW	4	62525869	missense	probably benign	0.01
R6576:4933430I17Rik	UTSW	4	62532605	missense	possibly damaging	0.71
R7506:4933430I17Rik	UTSW	4	62532261	missense	possibly damaging	0.51
R7953:4933430I17Rik	UTSW	4	62532659	missense	probably null	0.71
R8329:4933430I17Rik	UTSW	4	62543741	critical splice donor site	probably null
R8348:4933430I17Rik	UTSW	4	62542785	critical splice donor site	probably null
R8448:4933430I17Rik	UTSW	4	62542785	critical splice donor site	probably null
R8699:4933430I17Rik	UTSW	4	62532278	missense	probably damaging	0.98
R9516:4933430I17Rik	UTSW	4	62542679	missense	probably benign

Posted On

2013-12-03