Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01138:4930486L24Rik'

52608

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930486L24Rik

Ensembl Gene

ENSMUSG00000050345

Gene Name

RIKEN cDNA 4930486L24 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL01138

Quality Score

Status

Chromosome

Chromosomal Location

60990426-61012230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61002673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 27 (V27A)

Ref Sequence

ENSEMBL: ENSMUSP00000089157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091569] [ENSMUST00000225690]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000091569
AA Change: V27A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000089157
Gene: ENSMUSG00000050345
AA Change: V27A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Inhibitor_I29	29	88	1e-19	SMART
Pept_C1	114	332	7.93e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225382

Predicted Effect

probably benign
Transcript: ENSMUST00000225690

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,972,275 (GRCm39)	R499S	possibly damaging	Het
Adamts13	T	C	2: 26,873,054 (GRCm39)	S341P	probably damaging	Het
Adgrg1	T	A	8: 95,730,085 (GRCm39)	C96S	probably damaging	Het
Arhgap44	A	G	11: 64,932,275 (GRCm39)	F215S	probably damaging	Het
Arhgef25	A	G	10: 127,020,039 (GRCm39)	F400L	probably damaging	Het
Baz1a	T	C	12: 54,977,110 (GRCm39)	E384G	probably damaging	Het
Col12a1	T	C	9: 79,585,335 (GRCm39)	D1314G	probably damaging	Het
Col6a3	T	A	1: 90,735,232 (GRCm39)	I806F	probably damaging	Het
Coro1c	G	A	5: 113,990,222 (GRCm39)		probably benign	Het
Dnmt3b	A	T	2: 153,503,361 (GRCm39)	D4V	probably benign	Het
Ermn	G	T	2: 57,942,707 (GRCm39)	L8M	possibly damaging	Het
F13b	T	A	1: 139,444,950 (GRCm39)	N533K	probably damaging	Het
Fam171a1	T	C	2: 3,203,657 (GRCm39)	V93A	possibly damaging	Het
Gpr107	T	A	2: 31,062,028 (GRCm39)	L152Q	probably benign	Het
Guca1a	C	A	17: 47,711,309 (GRCm39)	E12D	probably damaging	Het
Igtp	A	G	11: 58,096,970 (GRCm39)	N47S	possibly damaging	Het
Lratd2	T	A	15: 60,694,967 (GRCm39)	I260F	probably damaging	Het
Lrrc8e	A	G	8: 4,284,084 (GRCm39)	N103S	probably damaging	Het
Lsmem1	A	G	12: 40,230,698 (GRCm39)	L68P	probably damaging	Het
Maml3	A	G	3: 51,597,979 (GRCm39)	S902P	possibly damaging	Het
Mkln1	A	T	6: 31,409,925 (GRCm39)	N188Y	probably damaging	Het
Mlxip	C	T	5: 123,588,219 (GRCm39)	R771W	probably damaging	Het
Myf6	T	C	10: 107,330,259 (GRCm39)	R103G	probably damaging	Het
Ncam2	T	A	16: 81,314,467 (GRCm39)	I481K	probably damaging	Het
Nrap	T	A	19: 56,343,970 (GRCm39)	S645C	probably damaging	Het
Nup205	G	T	6: 35,185,019 (GRCm39)	E813*	probably null	Het
Or13c7c	A	G	4: 43,835,617 (GRCm39)	L291P	probably damaging	Het
Plekhg5	C	T	4: 152,191,435 (GRCm39)	R410W	probably damaging	Het
Pnma8b	C	A	7: 16,679,088 (GRCm39)	T24K	unknown	Het
Polq	A	T	16: 36,866,231 (GRCm39)	Y476F	possibly damaging	Het
Prkd2	T	C	7: 16,582,736 (GRCm39)	S200P	probably damaging	Het
Rif1	C	A	2: 52,001,534 (GRCm39)	L1663I	probably damaging	Het
Serpina5	A	G	12: 104,070,003 (GRCm39)	Y300C	possibly damaging	Het
Shroom4	T	C	X: 6,497,257 (GRCm39)	S806P	probably damaging	Het
Sirpa	T	C	2: 129,472,085 (GRCm39)	V290A	probably damaging	Het
Slc25a47	C	T	12: 108,821,948 (GRCm39)	R246C	probably damaging	Het
Slc9a6	A	G	X: 55,668,791 (GRCm39)	D199G	probably damaging	Het
Smarca5	T	A	8: 81,427,705 (GRCm39)	K1048M	possibly damaging	Het
Sos2	C	T	12: 69,663,623 (GRCm39)		probably benign	Het
Trpm5	T	A	7: 142,628,306 (GRCm39)	M990L	probably benign	Het
Vmn2r99	A	T	17: 19,602,885 (GRCm39)	T547S	probably damaging	Het
Vps13b	T	C	15: 35,446,916 (GRCm39)		probably benign	Het
Zfp994	G	A	17: 22,421,649 (GRCm39)		probably benign	Het

Other mutations in 4930486L24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:4930486L24Rik	APN	13	61,001,347 (GRCm39)	missense	probably damaging	1.00
IGL02290:4930486L24Rik	APN	13	61,001,344 (GRCm39)	missense	probably damaging	1.00
IGL02861:4930486L24Rik	APN	13	61,001,146 (GRCm39)	splice site	probably benign
PIT4514001:4930486L24Rik	UTSW	13	61,001,328 (GRCm39)	critical splice donor site	probably null
R0110:4930486L24Rik	UTSW	13	61,001,320 (GRCm39)	splice site	probably benign
R1396:4930486L24Rik	UTSW	13	61,001,057 (GRCm39)	missense	probably benign	0.00
R1471:4930486L24Rik	UTSW	13	61,001,336 (GRCm39)	missense	probably damaging	1.00
R1688:4930486L24Rik	UTSW	13	61,002,695 (GRCm39)	missense	probably benign	0.00
R1697:4930486L24Rik	UTSW	13	60,992,928 (GRCm39)	missense	probably damaging	1.00
R3838:4930486L24Rik	UTSW	13	60,993,041 (GRCm39)	missense	probably damaging	1.00
R4714:4930486L24Rik	UTSW	13	60,992,132 (GRCm39)	missense	probably damaging	1.00
R4976:4930486L24Rik	UTSW	13	61,001,387 (GRCm39)	nonsense	probably null
R5072:4930486L24Rik	UTSW	13	61,001,414 (GRCm39)	missense	probably benign	0.00
R5107:4930486L24Rik	UTSW	13	61,001,472 (GRCm39)	missense	possibly damaging	0.62
R5699:4930486L24Rik	UTSW	13	61,001,410 (GRCm39)	missense	possibly damaging	0.92
R6092:4930486L24Rik	UTSW	13	61,001,461 (GRCm39)	missense	probably benign	0.01
R6787:4930486L24Rik	UTSW	13	61,000,922 (GRCm39)	missense	probably benign
R6800:4930486L24Rik	UTSW	13	60,992,948 (GRCm39)	missense	probably damaging	1.00
R7349:4930486L24Rik	UTSW	13	60,990,717 (GRCm39)	missense	possibly damaging	0.52
R7390:4930486L24Rik	UTSW	13	60,992,152 (GRCm39)	missense	probably benign	0.00
R7580:4930486L24Rik	UTSW	13	60,993,040 (GRCm39)	missense	probably damaging	0.97
R7589:4930486L24Rik	UTSW	13	60,990,747 (GRCm39)	missense	probably damaging	1.00
R9304:4930486L24Rik	UTSW	13	61,001,352 (GRCm39)	missense	probably damaging	0.98
R9340:4930486L24Rik	UTSW	13	61,001,647 (GRCm39)	missense	probably benign	0.20
R9485:4930486L24Rik	UTSW	13	61,001,059 (GRCm39)	missense	possibly damaging	0.88
R9489:4930486L24Rik	UTSW	13	61,002,683 (GRCm39)	missense	probably damaging	1.00
R9798:4930486L24Rik	UTSW	13	61,000,934 (GRCm39)	missense	possibly damaging	0.69

Posted On

2013-06-21