Mutagenetix > Incidental Mutation

Incidental Mutation 'R3861:5730507C01Rik'

276365

Institutional Source

Beutler Lab

Gene Symbol

5730507C01Rik

Ensembl Gene

ENSMUSG00000073197

Gene Name

RIKEN cDNA 5730507C01 gene

Synonyms

MMRRC Submission

040788-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R3861 (G1)

Quality Score

100

Status

Not validated

Chromosome

Chromosomal Location

18564511-18585255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18583411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 157 (S157N)

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: S133N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099112
Gene: ENSMUSG00000073197
AA Change: S133N

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

probably benign
Transcript: ENSMUST00000177778
AA Change: S157N

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137525
Gene: ENSMUSG00000073197
AA Change: S157N

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	C	1: 11,658,778 (GRCm39)		probably benign	Het
Akip1	C	T	7: 109,306,613 (GRCm39)		probably benign	Het
Anxa5	T	C	3: 36,504,807 (GRCm39)	T252A	probably benign	Het
Arhgef10l	A	G	4: 140,242,798 (GRCm39)	F1072L	possibly damaging	Het
Armc1	C	T	3: 19,189,196 (GRCm39)	R186Q	probably damaging	Het
Atxn2l	A	T	7: 126,101,123 (GRCm39)		probably null	Het
Cadps2	A	G	6: 23,355,860 (GRCm39)	I849T	probably damaging	Het
Ccdc28a	T	A	10: 18,100,743 (GRCm39)	Q28L	probably damaging	Het
Cdh4	T	A	2: 179,515,890 (GRCm39)	V356D	probably damaging	Het
Chd8	T	A	14: 52,474,578 (GRCm39)	Q151L	probably benign	Het
Chgb	T	A	2: 132,635,064 (GRCm39)	H335Q	probably damaging	Het
Col19a1	G	A	1: 24,365,098 (GRCm39)	P506S	probably damaging	Het
Col5a2	T	C	1: 45,419,397 (GRCm39)	T1228A	probably damaging	Het
Cpxm2	A	G	7: 131,656,648 (GRCm39)	V538A	probably benign	Het
Cramp1	A	T	17: 25,216,588 (GRCm39)		probably benign	Het
Cttnbp2	T	C	6: 18,423,832 (GRCm39)	R831G	probably benign	Het
Cyp4f17	A	G	17: 32,747,078 (GRCm39)	D436G	probably damaging	Het
Dcaf6	A	T	1: 165,256,838 (GRCm39)	N48K	probably damaging	Het
Ddx50	C	A	10: 62,478,725 (GRCm39)	V154L	possibly damaging	Het
Dnah9	T	C	11: 65,943,820 (GRCm39)		probably benign	Het
Dnm3	T	A	1: 162,138,974 (GRCm39)	I395L	possibly damaging	Het
Elp2	C	T	18: 24,739,977 (GRCm39)	R68C	probably benign	Het
Frg1	A	T	8: 41,860,820 (GRCm39)		probably null	Het
Fsip2	G	T	2: 82,815,120 (GRCm39)	D3618Y	probably damaging	Het
Gabra2	T	C	5: 71,130,886 (GRCm39)	D314G	probably damaging	Het
Gramd1a	A	C	7: 30,835,365 (GRCm39)	D407E	possibly damaging	Het
Grm5	T	A	7: 87,779,202 (GRCm39)	S881T	possibly damaging	Het
Ikbkb	T	A	8: 23,168,852 (GRCm39)	I216F	possibly damaging	Het
Kif3a	T	C	11: 53,488,805 (GRCm39)	V634A	probably benign	Het
Ltbp1	A	T	17: 75,666,333 (GRCm39)	Y1342F	possibly damaging	Het
Mia2	G	T	12: 59,155,807 (GRCm39)	V508L	probably benign	Het
Mtus2	C	T	5: 148,250,223 (GRCm39)	T155M	probably damaging	Het
Napepld	A	T	5: 21,888,287 (GRCm39)	V54E	probably benign	Het
Nlrc4	T	C	17: 74,752,616 (GRCm39)	E589G	probably benign	Het
Nphp3	G	T	9: 103,916,525 (GRCm39)		probably benign	Het
Nr2f1	T	A	13: 78,343,794 (GRCm39)	R10*	probably null	Het
Nsfl1c	C	A	2: 151,352,824 (GRCm39)		probably null	Het
Or14a258	A	G	7: 86,035,331 (GRCm39)	V179A	possibly damaging	Het
Pcdhgc3	A	G	18: 37,941,581 (GRCm39)	T661A	probably damaging	Het
Pdzrn3	A	G	6: 101,149,332 (GRCm39)	V332A	possibly damaging	Het
Pip4p2	A	G	4: 14,902,506 (GRCm39)	N169S	probably damaging	Het
Pkhd1	C	T	1: 20,271,151 (GRCm39)	C3134Y	probably damaging	Het
Ptprz1	T	C	6: 23,036,894 (GRCm39)	V1131A	probably damaging	Het
Rccd1	T	C	7: 79,970,116 (GRCm39)	E167G	probably benign	Het
Ror1	T	C	4: 100,265,120 (GRCm39)	I198T	possibly damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scly	C	T	1: 91,230,573 (GRCm39)		probably benign	Het
Scn4a	T	C	11: 106,216,950 (GRCm39)		probably benign	Het
Sh3rf2	T	C	18: 42,286,384 (GRCm39)	S594P	probably damaging	Het
Slc19a1	G	A	10: 76,877,809 (GRCm39)	V115M	possibly damaging	Het
Slc26a6	A	T	9: 108,731,395 (GRCm39)		probably benign	Het
Smg7	C	T	1: 152,728,349 (GRCm39)	R439K	probably null	Het
Spata31e3	T	C	13: 50,400,887 (GRCm39)	K480E	probably benign	Het
Syne2	A	G	12: 76,013,253 (GRCm39)	R2815G	probably damaging	Het
Trim75	G	A	8: 65,435,479 (GRCm39)	R324C	probably damaging	Het
Ucp3	T	C	7: 100,129,458 (GRCm39)	S98P	probably benign	Het
Zscan29	G	C	2: 120,991,212 (GRCm39)	R859G	probably benign	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
R3934:5730507C01Rik	UTSW	12	18,584,082 (GRCm39)	missense	possibly damaging	0.95
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'- AAAAGGATGTTATGAACGTCAGCCA -3'
(R):5'- TCATAGGGTTTCTCTCCAGTATGT -3'

Sequencing Primer
(F):5'- GTTATGAACGTCAGCCAGGTAATAAC -3'
(R):5'- ACTTCCCAGTTGTGCAAAGG -3'

Posted On

2015-04-06