Mutagenetix > Incidental Mutation

Incidental Mutation 'R3934:5730507C01Rik'

306949

Institutional Source

Beutler Lab

Gene Symbol

5730507C01Rik

Ensembl Gene

ENSMUSG00000073197

Gene Name

RIKEN cDNA 5730507C01 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R3934 (G1)

Quality Score

183

Status

Not validated

Chromosome

Chromosomal Location

18564511-18585255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18584082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 381 (Y381N)

Ref Sequence

ENSEMBL: ENSMUSP00000137525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063216] [ENSMUST00000177778]

AlphaFold

J3QPX0

Predicted Effect

probably benign
Transcript: ENSMUST00000063216
AA Change: Y357N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099112
Gene: ENSMUSG00000073197
AA Change: Y357N

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
KRAB	45	107	1.74e-14	SMART
ZnF_C2H2	144	166	5.54e1	SMART
ZnF_C2H2	172	194	8.75e0	SMART
ZnF_C2H2	200	222	2.43e-4	SMART
ZnF_C2H2	228	250	2.02e-1	SMART
ZnF_C2H2	256	278	1.4e-4	SMART
ZnF_C2H2	284	306	1.84e-4	SMART
ZnF_C2H2	312	334	6.88e-4	SMART
ZnF_C2H2	340	362	9.58e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177778
AA Change: Y381N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137525
Gene: ENSMUSG00000073197
AA Change: Y381N

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
KRAB	69	131	1.74e-14	SMART
ZnF_C2H2	168	190	5.54e1	SMART
ZnF_C2H2	196	218	8.75e0	SMART
ZnF_C2H2	224	246	2.43e-4	SMART
ZnF_C2H2	252	274	2.02e-1	SMART
ZnF_C2H2	280	302	1.4e-4	SMART
ZnF_C2H2	308	330	1.84e-4	SMART
ZnF_C2H2	336	358	6.88e-4	SMART
ZnF_C2H2	364	386	9.58e-3	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,405,432 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,623,166 (GRCm39)	F3819S	probably benign	Het
Aig1	T	C	10: 13,677,656 (GRCm39)	D112G	probably damaging	Het
Akap6	C	T	12: 53,187,227 (GRCm39)	T1547M	possibly damaging	Het
Alk	T	A	17: 72,512,949 (GRCm39)	I337F	probably damaging	Het
C2cd5	C	T	6: 142,987,106 (GRCm39)	V499I	possibly damaging	Het
Capn11	A	T	17: 45,945,213 (GRCm39)		probably benign	Het
Clstn3	G	A	6: 124,434,901 (GRCm39)	T338I	probably damaging	Het
Cmbl	A	G	15: 31,589,933 (GRCm39)	D221G	possibly damaging	Het
Enpp2	A	G	15: 54,709,317 (GRCm39)	V766A	probably benign	Het
Fastk	G	T	5: 24,647,257 (GRCm39)	S317*	probably null	Het
Fgfr1op2	T	A	6: 146,496,669 (GRCm39)		probably benign	Het
Gpr85	A	G	6: 13,836,044 (GRCm39)	F287L	probably benign	Het
Hectd4	G	A	5: 121,458,164 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,270,496 (GRCm39)		probably null	Het
Hspbp1	A	T	7: 4,667,594 (GRCm39)	M271K	probably benign	Het
Itgb6	G	A	2: 60,441,755 (GRCm39)	T685M	possibly damaging	Het
Itih5	G	A	2: 10,250,355 (GRCm39)	V685I	probably damaging	Het
Kalrn	T	C	16: 34,130,901 (GRCm39)	S421G	probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mitf	C	T	6: 97,970,214 (GRCm39)	P54S	probably damaging	Het
Perm1	A	G	4: 156,303,627 (GRCm39)	T724A	probably benign	Het
Pex5l	T	C	3: 33,061,321 (GRCm39)	E176G	probably damaging	Het
Polk	A	T	13: 96,638,143 (GRCm39)	M192K	possibly damaging	Het
Polr3a	T	C	14: 24,526,169 (GRCm39)	I401V	probably benign	Het
Prpf38b	T	C	3: 108,811,741 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,886,938 (GRCm39)	S330P	probably damaging	Het
Slc16a7	C	A	10: 125,066,712 (GRCm39)	R309L	probably damaging	Het
Slc35f1	C	T	10: 52,984,314 (GRCm39)	T358I	probably damaging	Het
Slc39a12	T	A	2: 14,439,174 (GRCm39)		probably benign	Het
Sod3	T	C	5: 52,525,987 (GRCm39)	S229P	probably benign	Het
Sorcs3	T	A	19: 48,701,943 (GRCm39)	V608D	probably damaging	Het
Spink5	G	T	18: 44,149,494 (GRCm39)	K958N	probably damaging	Het
Ttc7	A	C	17: 87,678,166 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 187,995,708 (GRCm39)		probably null	Het
Vmn2r19	T	A	6: 123,292,628 (GRCm39)	D223E	probably damaging	Het
Vwf	T	A	6: 125,532,462 (GRCm39)	S87T	probably damaging	Het
Wdr35	G	T	12: 9,058,014 (GRCm39)	G513C	probably damaging	Het

Other mutations in 5730507C01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:5730507C01Rik	APN	12	18,583,375 (GRCm39)	missense	possibly damaging	0.91
R0419:5730507C01Rik	UTSW	12	18,583,424 (GRCm39)	missense	possibly damaging	0.53
R1662:5730507C01Rik	UTSW	12	18,581,967 (GRCm39)	missense	possibly damaging	0.53
R1851:5730507C01Rik	UTSW	12	18,583,687 (GRCm39)	missense	possibly damaging	0.95
R1902:5730507C01Rik	UTSW	12	18,584,004 (GRCm39)	nonsense	probably null
R2876:5730507C01Rik	UTSW	12	18,583,644 (GRCm39)	missense	possibly damaging	0.60
R3861:5730507C01Rik	UTSW	12	18,583,411 (GRCm39)	missense	probably benign	0.33
R5774:5730507C01Rik	UTSW	12	18,581,668 (GRCm39)	missense	probably damaging	1.00
R6259:5730507C01Rik	UTSW	12	18,584,120 (GRCm39)	missense	probably benign	0.44
R7647:5730507C01Rik	UTSW	12	18,564,803 (GRCm39)	missense	possibly damaging	0.86
R8053:5730507C01Rik	UTSW	12	18,583,728 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTGCAGAACTCAGTAATCTCCAAC -3'
(R):5'- CGTGACATCAAATGCTTTACAACAC -3'

Sequencing Primer
(F):5'- CGTCATAAAAGAACACATACTGGAG -3'
(R):5'- ACATTCATGAGGTTTCTTTCCAGTG -3'

Posted On

2015-04-17