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

62443606-62466230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62450858 bp (GRCm39)

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: 155,818,628 (GRCm39)		probably benign	Het
Acvr1	A	T	2: 58,348,997 (GRCm39)	D388E	probably benign	Het
Art3	T	C	5: 92,562,199 (GRCm39)	S354P	probably damaging	Het
Bpnt1	C	A	1: 185,077,591 (GRCm39)	S102*	probably null	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Cfap65	A	T	1: 74,950,237 (GRCm39)	S1171T	probably damaging	Het
Cracd	T	A	5: 77,005,478 (GRCm39)	M613K	unknown	Het
Csn2	T	C	5: 87,842,838 (GRCm39)	H47R	possibly damaging	Het
Gm14496	T	A	2: 181,637,458 (GRCm39)	D177E	probably benign	Het
Hmbs	A	G	9: 44,250,845 (GRCm39)	V126A	possibly damaging	Het
Ica1l	A	G	1: 60,054,916 (GRCm39)	M105T	probably damaging	Het
Morc2a	G	A	11: 3,600,428 (GRCm39)	E17K	probably benign	Het
Mroh8	T	C	2: 157,080,232 (GRCm39)		probably benign	Het
Mroh9	G	T	1: 162,883,172 (GRCm39)	L436I	probably damaging	Het
Nup54	T	C	5: 92,565,334 (GRCm39)	D461G	probably benign	Het
Or10ag2	A	T	2: 87,249,319 (GRCm39)	D309V	probably damaging	Het
Or2t45	A	G	11: 58,669,123 (GRCm39)	T57A	probably benign	Het
Pcid2	G	A	8: 13,135,319 (GRCm39)		probably benign	Het
Ppp1r3b	G	T	8: 35,851,872 (GRCm39)	R237L	probably benign	Het
Prdm11	A	G	2: 92,843,102 (GRCm39)	V119A	probably damaging	Het
S100a7l2	T	A	3: 90,995,612 (GRCm39)		probably benign	Het
Serpina5	T	A	12: 104,068,149 (GRCm39)	V70E	probably damaging	Het
Skap2	C	T	6: 51,884,894 (GRCm39)	D249N	probably benign	Het
Slc22a29	A	T	19: 8,184,542 (GRCm39)		probably benign	Het
Slc4a1ap	C	A	5: 31,685,571 (GRCm39)	T283K	possibly damaging	Het
Slc6a21	T	G	7: 44,937,220 (GRCm39)	I575S	probably damaging	Het
Smpd1	T	G	7: 105,203,982 (GRCm39)	W82G	probably benign	Het
Snx14	T	A	9: 88,263,553 (GRCm39)	M897L	probably damaging	Het
Tjp1	A	G	7: 64,972,406 (GRCm39)	V586A	probably damaging	Het
Tmc8	T	C	11: 117,682,910 (GRCm39)		probably benign	Het
Trim34a	A	G	7: 103,909,706 (GRCm39)	Y298C	probably damaging	Het
Ube3c	T	C	5: 29,872,960 (GRCm39)	V1000A	probably damaging	Het

Other mutations in 4933430I17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:4933430I17Rik	APN	4	62,450,903 (GRCm39)	splice site	probably benign
IGL00326:4933430I17Rik	APN	4	62,461,981 (GRCm39)	splice site	probably null
IGL02152:4933430I17Rik	APN	4	62,460,991 (GRCm39)	missense	possibly damaging	0.93
IGL03153:4933430I17Rik	APN	4	62,465,563 (GRCm39)	missense	possibly damaging	0.85
R0281:4933430I17Rik	UTSW	4	62,464,304 (GRCm39)	nonsense	probably null
R0436:4933430I17Rik	UTSW	4	62,461,682 (GRCm39)	splice site	probably benign
R1459:4933430I17Rik	UTSW	4	62,450,578 (GRCm39)	missense	probably damaging	0.99
R1807:4933430I17Rik	UTSW	4	62,460,993 (GRCm39)	nonsense	probably null
R1930:4933430I17Rik	UTSW	4	62,450,519 (GRCm39)	missense	possibly damaging	0.83
R1958:4933430I17Rik	UTSW	4	62,457,146 (GRCm39)	missense	probably benign	0.09
R2118:4933430I17Rik	UTSW	4	62,457,109 (GRCm39)	missense	possibly damaging	0.93
R2119:4933430I17Rik	UTSW	4	62,457,109 (GRCm39)	missense	possibly damaging	0.93
R2124:4933430I17Rik	UTSW	4	62,457,109 (GRCm39)	missense	possibly damaging	0.93
R4323:4933430I17Rik	UTSW	4	62,465,548 (GRCm39)	missense	probably damaging	0.98
R4592:4933430I17Rik	UTSW	4	62,457,164 (GRCm39)	missense	possibly damaging	0.93
R5708:4933430I17Rik	UTSW	4	62,444,106 (GRCm39)	missense	probably benign	0.01
R6576:4933430I17Rik	UTSW	4	62,450,842 (GRCm39)	missense	possibly damaging	0.71
R7506:4933430I17Rik	UTSW	4	62,450,498 (GRCm39)	missense	possibly damaging	0.51
R7953:4933430I17Rik	UTSW	4	62,450,896 (GRCm39)	missense	probably null	0.71
R8329:4933430I17Rik	UTSW	4	62,461,978 (GRCm39)	critical splice donor site	probably null
R8348:4933430I17Rik	UTSW	4	62,461,022 (GRCm39)	critical splice donor site	probably null
R8448:4933430I17Rik	UTSW	4	62,461,022 (GRCm39)	critical splice donor site	probably null
R8699:4933430I17Rik	UTSW	4	62,450,515 (GRCm39)	missense	probably damaging	0.98
R9516:4933430I17Rik	UTSW	4	62,460,916 (GRCm39)	missense	probably benign

Posted On

2013-12-03