Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01547:1700013G24Rik'

90360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700013G24Rik

Ensembl Gene

ENSMUSG00000041399

Gene Name

RIKEN cDNA 1700013G24 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL01547

Quality Score

Status

Chromosome

Chromosomal Location

137180607-137182772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137182573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 243 (G243R)

Ref Sequence

ENSEMBL: ENSMUSP00000043461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048893]

AlphaFold

Q9DAC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048893
AA Change: G243R

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043461
Gene: ENSMUSG00000041399
AA Change: G243R

Domain	Start	End	E-Value	Type
low complexity region	44	65	N/A	INTRINSIC
low complexity region	181	203	N/A	INTRINSIC
SCOP:d1i50b_	216	261	3e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	T	C	8: 124,228,090 (GRCm39)	V625A	probably benign	Het
Arhgap39	T	C	15: 76,622,015 (GRCm39)		probably benign	Het
Bag1	A	G	4: 40,936,661 (GRCm39)	C332R	probably damaging	Het
Bcas2	T	C	3: 103,079,315 (GRCm39)	Y49H	probably damaging	Het
Cacna1b	C	A	2: 24,522,047 (GRCm39)		probably benign	Het
Cdyl	A	G	13: 35,974,145 (GRCm39)	D53G	possibly damaging	Het
Csmd3	T	C	15: 47,747,013 (GRCm39)	I1322V	probably benign	Het
Evc2	C	A	5: 37,550,431 (GRCm39)	A815E	probably benign	Het
Gm6309	C	T	5: 146,105,221 (GRCm39)	D231N	probably benign	Het
Mtfr2	C	T	10: 20,233,345 (GRCm39)	P305S	probably damaging	Het
Or14c44	A	G	7: 86,062,079 (GRCm39)	N170D	possibly damaging	Het
Or51k1	A	T	7: 103,661,867 (GRCm39)	I14N	probably benign	Het
Or7d10	A	T	9: 19,832,197 (GRCm39)	I231F	probably benign	Het
Pcdhb1	A	G	18: 37,400,395 (GRCm39)	H782R	probably benign	Het
Polr2a	A	G	11: 69,635,768 (GRCm39)	S480P	probably damaging	Het
Scaf11	T	C	15: 96,316,310 (GRCm39)	T1085A	probably benign	Het
Sema6c	C	T	3: 95,079,709 (GRCm39)	R668C	probably damaging	Het
Tas2r123	C	T	6: 132,824,421 (GRCm39)	T106I	probably damaging	Het
Tgm5	A	G	2: 120,879,683 (GRCm39)		probably benign	Het
Vmn2r23	T	A	6: 123,681,383 (GRCm39)	I97N	possibly damaging	Het
Vmn2r6	T	A	3: 64,445,525 (GRCm39)	K644N	probably damaging	Het
Zfp608	A	G	18: 55,027,521 (GRCm39)		probably null	Het

Other mutations in 1700013G24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02646:1700013G24Rik	APN	4	137,182,101 (GRCm39)	nonsense	probably null
R0526:1700013G24Rik	UTSW	4	137,182,535 (GRCm39)	missense	possibly damaging	0.92
R1449:1700013G24Rik	UTSW	4	137,182,666 (GRCm39)	missense	possibly damaging	0.94
R3743:1700013G24Rik	UTSW	4	137,182,348 (GRCm39)	missense	probably damaging	0.96
R5357:1700013G24Rik	UTSW	4	137,182,463 (GRCm39)	missense	possibly damaging	0.90
R6265:1700013G24Rik	UTSW	4	137,181,986 (GRCm39)	missense	probably damaging	1.00
R6586:1700013G24Rik	UTSW	4	137,182,639 (GRCm39)	missense	possibly damaging	0.90
R6720:1700013G24Rik	UTSW	4	137,181,997 (GRCm39)	missense	possibly damaging	0.94
R6988:1700013G24Rik	UTSW	4	137,181,890 (GRCm39)	missense	probably damaging	1.00
R7640:1700013G24Rik	UTSW	4	137,181,905 (GRCm39)	missense	probably damaging	0.99
R7825:1700013G24Rik	UTSW	4	137,182,654 (GRCm39)	missense	probably damaging	1.00
R8905:1700013G24Rik	UTSW	4	137,182,553 (GRCm39)	missense	probably benign
R9536:1700013G24Rik	UTSW	4	137,182,623 (GRCm39)	missense	probably damaging	0.99
Z1176:1700013G24Rik	UTSW	4	137,182,303 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03