Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:9130019O22Rik'

585720

Institutional Source

Beutler Lab

Gene Symbol

9130019O22Rik

Ensembl Gene

ENSMUSG00000030823

Gene Name

RIKEN cDNA 9130019O22 gene

Synonyms

MMRRC Submission

045631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127382260-127387166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127385283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 216 (S216C)

Ref Sequence

ENSEMBL: ENSMUSP00000038195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049052] [ENSMUST00000164345] [ENSMUST00000165495]

AlphaFold

G3X941

Predicted Effect

probably benign
Transcript: ENSMUST00000049052
AA Change: S216C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000038195
Gene: ENSMUSG00000030823
AA Change: S216C

Domain	Start	End	E-Value	Type
KRAB	22	82	5.44e-25	SMART
low complexity region	102	115	N/A	INTRINSIC
ZnF_C2H2	152	174	6.88e-4	SMART
ZnF_C2H2	180	202	1.47e-3	SMART
ZnF_C2H2	208	230	5.29e-5	SMART
ZnF_C2H2	236	258	4.87e-4	SMART
ZnF_C2H2	264	286	3.69e-4	SMART
ZnF_C2H2	292	314	1.47e-3	SMART
ZnF_C2H2	320	342	5.21e-4	SMART
ZnF_C2H2	348	370	1.45e-2	SMART
ZnF_C2H2	376	398	2.12e-4	SMART
ZnF_C2H2	404	427	1.45e-2	SMART
ZnF_C2H2	433	455	3.69e-4	SMART
ZnF_C2H2	461	483	6.67e-2	SMART
ZnF_C2H2	489	511	1.67e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164345

SMART Domains

Protein: ENSMUSP00000131610
Gene: ENSMUSG00000030823

Domain	Start	End	E-Value	Type
KRAB	22	67	1.65e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165495

SMART Domains

Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580

Domain	Start	End	E-Value	Type
KRAB	22	82	4.09e-29	SMART
ZnF_C2H2	168	190	2.2e-2	SMART
ZnF_C2H2	196	218	4.79e-3	SMART
ZnF_C2H2	224	246	4.3e-5	SMART
ZnF_C2H2	252	274	7.9e-4	SMART
ZnF_C2H2	280	302	9.58e-3	SMART
ZnF_C2H2	308	331	2.36e-2	SMART
ZnF_C2H2	337	359	2.57e-3	SMART
ZnF_C2H2	365	387	1.69e-3	SMART
ZnF_C2H2	393	415	2.2e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,934,610 (GRCm38)	T613I	probably benign	Het
Ajuba	T	C	14: 54,576,402 (GRCm38)	E288G	probably damaging	Het
Ankrd12	C	T	17: 65,985,360 (GRCm38)	R1026K	probably benign	Het
Apol7b	T	C	15: 77,423,474 (GRCm38)	T274A	probably benign	Het
Arid4a	A	T	12: 71,063,142 (GRCm38)	R86*	probably null	Het
Asnsd1	C	T	1: 53,348,258 (GRCm38)	G70D	probably damaging	Het
Atg4c	T	A	4: 99,228,560 (GRCm38)	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,266,963 (GRCm38)	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,262,263 (GRCm38)	I209F	possibly damaging	Het
Bsn	T	C	9: 108,113,543 (GRCm38)	D1670G	probably damaging	Het
Cct8	T	A	16: 87,491,322 (GRCm38)	I121F	probably benign	Het
Cd209a	T	G	8: 3,744,151 (GRCm38)	D217A	probably damaging	Het
Cdk19	C	T	10: 40,477,958 (GRCm38)	S456L	possibly damaging	Het
Chd9	C	T	8: 90,994,580 (GRCm38)	H999Y	unknown	Het
Col5a1	G	A	2: 27,951,383 (GRCm38)	V339M	unknown	Het
Cr2	G	A	1: 195,169,340 (GRCm38)	R115*	probably null	Het
Cyb561	A	T	11: 105,937,644 (GRCm38)	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,404,743 (GRCm38)	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,859,898 (GRCm38)	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,424,569 (GRCm38)	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,119,373 (GRCm38)	S296P	probably benign	Het
Dmxl1	T	A	18: 49,893,957 (GRCm38)	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,346,952 (GRCm38)	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,149,430 (GRCm38)	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,388,644 (GRCm38)	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,676,699 (GRCm38)	Y594C	probably damaging	Het
Dph7	A	G	2: 24,965,630 (GRCm38)	D147G	probably damaging	Het
Drap1	T	C	19: 5,423,352 (GRCm38)	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,527,780 (GRCm38)	V392E	possibly damaging	Het
Dxo	A	G	17: 34,837,640 (GRCm38)	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,695,592 (GRCm38)	T11K	probably benign	Het
Esyt1	A	G	10: 128,518,932 (GRCm38)	V533A	possibly damaging	Het
Etv3	T	A	3: 87,536,031 (GRCm38)	C307*	probably null	Het
Fam114a1	T	A	5: 65,030,059 (GRCm38)		probably null	Het
Fam208b	A	G	13: 3,573,621 (GRCm38)	Y2110H	probably damaging	Het
Fam3c	T	A	6: 22,326,405 (GRCm38)		probably benign	Het
Fbn1	G	T	2: 125,397,852 (GRCm38)	T305K	probably benign	Het
Ggt1	A	T	10: 75,585,594 (GRCm38)	I484F	probably damaging	Het
Gm10639	A	T	9: 78,304,469 (GRCm38)	D171V	possibly damaging	Het
Gpatch1	T	C	7: 35,293,812 (GRCm38)	D536G	probably damaging	Het
Gpx4	T	C	10: 80,055,041 (GRCm38)	I189T	probably damaging	Het
Gsr	T	A	8: 33,669,165 (GRCm38)	C85S	probably damaging	Het
Havcr1	T	A	11: 46,770,542 (GRCm38)		probably null	Het
Heatr4	T	C	12: 83,979,644 (GRCm38)	T280A	probably benign	Het
Hmcn2	A	T	2: 31,423,911 (GRCm38)	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,075,099 (GRCm38)	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,468,738 (GRCm38)	V13A	probably benign	Het
Itgb2l	A	T	16: 96,426,239 (GRCm38)	F535I	probably benign	Het
Kdm5a	T	G	6: 120,427,842 (GRCm38)	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,923,775 (GRCm38)		probably null	Het
Ky	A	G	9: 102,542,329 (GRCm38)	I512V	probably benign	Het
Lamc1	A	T	1: 153,243,275 (GRCm38)	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,235,248 (GRCm38)		probably benign	Het
Magel2	A	G	7: 62,378,910 (GRCm38)	T521A	possibly damaging	Het
Mgam	A	T	6: 40,746,433 (GRCm38)	I491L	probably benign	Het
Mitd1	T	C	1: 37,890,192 (GRCm38)	E40G	probably damaging	Het
Mpzl3	A	G	9: 45,070,687 (GRCm38)	T218A	probably benign	Het
Mrpl42	A	G	10: 95,480,965 (GRCm38)	S77P	probably benign	Het
Mup5	C	T	4: 61,834,674 (GRCm38)	W37*	probably null	Het
Myh14	T	C	7: 44,632,426 (GRCm38)	I803V	probably benign	Het
Ncor2	T	A	5: 125,030,089 (GRCm38)	T744S		Het
Ndufv3	A	G	17: 31,527,622 (GRCm38)	D162G	probably damaging	Het
Nostrin	A	G	2: 69,175,806 (GRCm38)	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,162,379 (GRCm38)	E1288A	probably benign	Het
Olfr1205	A	G	2: 88,831,128 (GRCm38)	N4D	possibly damaging	Het
Olfr623	C	A	7: 103,660,881 (GRCm38)	R123L	probably damaging	Het
Olfr648	T	A	7: 104,179,748 (GRCm38)	Y220F	probably damaging	Het
Olfr972	A	T	9: 39,873,455 (GRCm38)	Y60F	possibly damaging	Het
Patj	T	A	4: 98,424,500 (GRCm38)		probably null	Het
Pcm1	T	G	8: 41,267,344 (GRCm38)	I314R	possibly damaging	Het
Pcsk6	A	G	7: 66,033,898 (GRCm38)	T754A	probably benign	Het
Pde2a	A	T	7: 101,502,834 (GRCm38)	N326I	probably benign	Het
Plekhg4	T	C	8: 105,378,684 (GRCm38)	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,937,906 (GRCm38)	D135G	probably damaging	Het
Plin4	A	T	17: 56,106,776 (GRCm38)	M283K	probably benign	Het
Ppfia3	T	C	7: 45,340,748 (GRCm38)		probably null	Het
Prdm9	T	C	17: 15,555,652 (GRCm38)	N179S	probably benign	Het
Prrt3	T	C	6: 113,494,488 (GRCm38)	S908G	probably damaging	Het
Psg22	C	A	7: 18,722,735 (GRCm38)	S181Y	possibly damaging	Het
Rcor3	C	A	1: 192,137,876 (GRCm38)	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,031,574 (GRCm38)	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529 (GRCm38)	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,139,089 (GRCm38)	M172L	probably benign	Het
Rtbdn	T	C	8: 84,952,927 (GRCm38)	L110P	probably damaging	Het
Ryr1	T	A	7: 29,078,585 (GRCm38)	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,320,473 (GRCm38)	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,531,395 (GRCm38)		probably null	Het
Serpina1a	A	T	12: 103,853,837 (GRCm38)	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 82,285,077 (GRCm38)	M262T	probably benign	Het
Sos2	G	A	12: 69,590,880 (GRCm38)	T1052M	probably damaging	Het
Spag16	G	A	1: 69,996,841 (GRCm38)	V343I	probably benign	Het
Spocd1	T	G	4: 129,930,164 (GRCm38)	D251E		Het
Stc2	G	T	11: 31,367,798 (GRCm38)	N74K	probably damaging	Het
Thbs3	C	T	3: 89,219,052 (GRCm38)	Q227*	probably null	Het
Tmem92	A	C	11: 94,778,990 (GRCm38)	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632 (GRCm38)	N20K	probably benign	Het
Tns1	T	C	1: 73,953,479 (GRCm38)	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,338 (GRCm38)	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,768,968 (GRCm38)	L392P	probably damaging	Het
Uggt1	T	A	1: 36,185,838 (GRCm38)	T572S	probably benign	Het
Usp17la	A	T	7: 104,860,397 (GRCm38)	T70S	probably damaging	Het
Usp31	C	T	7: 121,674,963 (GRCm38)	R370H	probably damaging	Het
Wdr83	C	T	8: 85,079,834 (GRCm38)	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,369,592 (GRCm38)		probably benign	Het
Zfp110	T	A	7: 12,849,340 (GRCm38)	N638K	possibly damaging	Het
Zfp820	T	C	17: 21,819,013 (GRCm38)	T445A	probably benign	Het

Other mutations in 9130019O22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:9130019O22Rik	APN	7	127,386,544 (GRCm38)	unclassified	probably benign
IGL03102:9130019O22Rik	APN	7	127,384,779 (GRCm38)	missense	probably benign	0.01
IGL03264:9130019O22Rik	APN	7	127,385,639 (GRCm38)	unclassified	probably benign
R1653:9130019O22Rik	UTSW	7	127,384,480 (GRCm38)	missense	possibly damaging	0.71
R1692:9130019O22Rik	UTSW	7	127,384,480 (GRCm38)	missense	possibly damaging	0.71
R2042:9130019O22Rik	UTSW	7	127,385,469 (GRCm38)	missense	possibly damaging	0.93
R2132:9130019O22Rik	UTSW	7	127,386,935 (GRCm38)	missense	probably benign
R3768:9130019O22Rik	UTSW	7	127,384,863 (GRCm38)	unclassified	probably benign
R3769:9130019O22Rik	UTSW	7	127,384,863 (GRCm38)	unclassified	probably benign
R3770:9130019O22Rik	UTSW	7	127,384,863 (GRCm38)	unclassified	probably benign
R4459:9130019O22Rik	UTSW	7	127,384,745 (GRCm38)	missense	probably damaging	0.98
R4461:9130019O22Rik	UTSW	7	127,384,745 (GRCm38)	missense	probably damaging	0.98
R4839:9130019O22Rik	UTSW	7	127,385,007 (GRCm38)	missense	probably benign	0.32
R4903:9130019O22Rik	UTSW	7	127,385,406 (GRCm38)	missense	probably benign	0.02
R5231:9130019O22Rik	UTSW	7	127,385,414 (GRCm38)	missense	probably damaging	0.98
R5324:9130019O22Rik	UTSW	7	127,384,907 (GRCm38)	unclassified	probably benign
R5735:9130019O22Rik	UTSW	7	127,385,407 (GRCm38)	missense	possibly damaging	0.60
R5808:9130019O22Rik	UTSW	7	127,384,913 (GRCm38)	unclassified	probably benign
R6429:9130019O22Rik	UTSW	7	127,385,042 (GRCm38)	unclassified	probably benign
R6571:9130019O22Rik	UTSW	7	127,385,138 (GRCm38)	unclassified	probably benign
R6655:9130019O22Rik	UTSW	7	127,384,340 (GRCm38)	missense	possibly damaging	0.96
R6806:9130019O22Rik	UTSW	7	127,386,594 (GRCm38)	unclassified	probably benign
R6962:9130019O22Rik	UTSW	7	127,384,315 (GRCm38)	missense	possibly damaging	0.70
R7091:9130019O22Rik	UTSW	7	127,384,362 (GRCm38)	missense	possibly damaging	0.70
R7204:9130019O22Rik	UTSW	7	127,384,346 (GRCm38)	missense	possibly damaging	0.92
R7218:9130019O22Rik	UTSW	7	127,384,680 (GRCm38)	missense	probably benign	0.32
R7604:9130019O22Rik	UTSW	7	127,386,535 (GRCm38)	missense	unknown
R7661:9130019O22Rik	UTSW	7	127,384,963 (GRCm38)	nonsense	probably null
R7893:9130019O22Rik	UTSW	7	127,386,544 (GRCm38)	unclassified	probably benign
R8323:9130019O22Rik	UTSW	7	127,384,449 (GRCm38)	missense	possibly damaging	0.71
R9172:9130019O22Rik	UTSW	7	127,385,454 (GRCm38)	missense	probably benign	0.38
R9204:9130019O22Rik	UTSW	7	127,385,160 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTACATGTGTGCCACCAAAGTG -3'
(R):5'- TCACGACTGCAATTTGTGTGG -3'

Sequencing Primer
(F):5'- CGCTGGGTAAAACTCTTCCCAC -3'
(R):5'- GGAAGAGTTTTGCCCGGC -3'

Posted On

2019-10-17