Mutagenetix > Incidental Mutation

Incidental Mutation 'R0419:5730507C01Rik'

36940

Institutional Source

Beutler Lab

Gene Symbol

5730507C01Rik

Ensembl Gene

ENSMUSG00000073197

Gene Name

RIKEN cDNA 5730507C01 gene

Synonyms

MMRRC Submission

038621-MU

Accession Numbers

Essential gene?

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

Stock #

R0419 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

18564511-18585255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18583424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 161 (R161S)

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: R137S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099112
Gene: ENSMUSG00000073197
AA Change: R137S

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: R161S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137525
Gene: ENSMUSG00000073197
AA Change: R161S

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: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,601,842 (GRCm39)		probably benign	Het
Adamts5	T	C	16: 85,663,530 (GRCm39)	I735V	probably benign	Het
Arid1a	G	T	4: 133,408,435 (GRCm39)	P2024Q	unknown	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
B3galt4	T	C	17: 34,169,764 (GRCm39)	Y158C	probably damaging	Het
BC049715	A	G	6: 136,817,143 (GRCm39)	T128A	possibly damaging	Het
Btaf1	T	A	19: 36,922,629 (GRCm39)	I11N	probably damaging	Het
Cfb	T	C	17: 35,077,485 (GRCm39)	I496V	probably damaging	Het
Chd8	A	T	14: 52,441,517 (GRCm39)	H858Q	probably benign	Het
Chrne	T	C	11: 70,506,549 (GRCm39)	I324V	probably benign	Het
Clec14a	T	C	12: 58,314,451 (GRCm39)	I390M	probably damaging	Het
Cpsf3	A	G	12: 21,347,800 (GRCm39)	Y207C	probably damaging	Het
Cubn	A	C	2: 13,474,574 (GRCm39)	I410S	possibly damaging	Het
Cubn	T	A	2: 13,474,575 (GRCm39)	I410F	possibly damaging	Het
Dlc1	T	C	8: 37,050,740 (GRCm39)	E997G	possibly damaging	Het
Emilin1	G	T	5: 31,072,366 (GRCm39)	V71F	probably damaging	Het
Esrp2	T	C	8: 106,861,307 (GRCm39)	E164G	probably damaging	Het
Fars2	A	G	13: 36,721,285 (GRCm39)	T410A	probably benign	Het
Fat3	A	G	9: 15,903,552 (GRCm39)	V2981A	probably damaging	Het
Fkbp15	G	A	4: 62,244,373 (GRCm39)	T472I	probably benign	Het
Gm6871	A	G	7: 41,222,869 (GRCm39)	V73A	probably benign	Het
Gnl2	T	G	4: 124,947,320 (GRCm39)	S647R	probably benign	Het
Grb10	T	C	11: 11,884,207 (GRCm39)	I500V	possibly damaging	Het
Herc1	T	C	9: 66,353,356 (GRCm39)		probably benign	Het
Iqgap2	A	C	13: 95,826,207 (GRCm39)		probably null	Het
Kcnu1	A	T	8: 26,427,646 (GRCm39)	N321I	probably benign	Het
Kif23	G	A	9: 61,833,687 (GRCm39)	R519*	probably null	Het
Klhl1	C	T	14: 96,619,225 (GRCm39)	R224Q	probably benign	Het
Lama1	T	C	17: 68,098,605 (GRCm39)		probably null	Het
Lamp3	T	C	16: 19,492,302 (GRCm39)	Y314C	probably damaging	Het
Lamtor5	C	A	3: 107,189,227 (GRCm39)	R88S	probably damaging	Het
Nbea	G	T	3: 55,726,715 (GRCm39)	A2088E	probably benign	Het
Neo1	A	G	9: 58,897,463 (GRCm39)		probably benign	Het
Ntn4	A	T	10: 93,518,291 (GRCm39)	R199S	probably benign	Het
Or5ap2	A	T	2: 85,680,311 (GRCm39)	R172*	probably null	Het
Plekho2	A	G	9: 65,464,334 (GRCm39)	S172P	possibly damaging	Het
Pmp2	T	C	3: 10,245,823 (GRCm39)	Y129C	probably damaging	Het
Prss3b	T	C	6: 41,011,281 (GRCm39)	N34D	probably benign	Het
Ralgapa2	A	T	2: 146,270,592 (GRCm39)	M578K	possibly damaging	Het
Ranbp3	C	T	17: 57,015,219 (GRCm39)	T307M	possibly damaging	Het
Serpinb11	G	A	1: 107,304,590 (GRCm39)	W185*	probably null	Het
Setdb2	A	T	14: 59,644,193 (GRCm39)		probably null	Het
Sirpb1b	A	T	3: 15,613,656 (GRCm39)	V75E	probably damaging	Het
Slc13a1	A	T	6: 24,100,292 (GRCm39)	L397Q	probably damaging	Het
Slc19a1	T	A	10: 76,878,742 (GRCm39)	I355N	probably damaging	Het
Slc51a	T	A	16: 32,295,254 (GRCm39)	I275F	possibly damaging	Het
Spink14	T	C	18: 44,164,934 (GRCm39)	S84P	probably damaging	Het
Stx2	A	G	5: 129,070,641 (GRCm39)		probably benign	Het
Tgfbi	G	T	13: 56,780,006 (GRCm39)		probably benign	Het
Tshr	T	A	12: 91,504,643 (GRCm39)	M527K	probably damaging	Het
Upb1	T	C	10: 75,248,717 (GRCm39)	V79A	probably damaging	Het
Zdhhc5	A	T	2: 84,521,587 (GRCm39)		probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp280d	T	C	9: 72,219,519 (GRCm39)	V32A	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
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
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

Posted On

2013-05-09