Mutagenetix > Incidental Mutation

Incidental Mutation 'R5735:9130019O22Rik'

451652

Institutional Source

Beutler Lab

Gene Symbol

9130019O22Rik

Ensembl Gene

ENSMUSG00000030823

Gene Name

RIKEN cDNA 9130019O22 gene

Synonyms

MMRRC Submission

043349-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127382260-127387166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127385407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 174 (H174Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038195 (fasta)

Gene Model

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

AlphaFold

G3X941

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049052
AA Change: H174Q

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038195
Gene: ENSMUSG00000030823
AA Change: H174Q

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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	A	G	19: 7,422,796	E209G	probably benign	Het
4930430A15Rik	A	T	2: 111,225,492	L183*	probably null	Het
Adamts16	C	A	13: 70,836,218	D109Y	possibly damaging	Het
Armc8	T	A	9: 99,497,394		probably null	Het
Atg4b	G	T	1: 93,773,797	G71V	probably damaging	Het
Atp10b	A	T	11: 43,151,774	M54L	probably benign	Het
Baiap2l1	A	G	5: 144,286,302	L75P	probably damaging	Het
Bnc2	A	C	4: 84,292,671	L487R	probably damaging	Het
C330027C09Rik	T	A	16: 49,017,493		probably null	Het
Cacng7	T	C	7: 3,339,023	S141P	probably benign	Het
Carmil2	G	A	8: 105,698,031	G1361D	probably damaging	Het
Cenpf	T	C	1: 189,654,363	I1907V	probably benign	Het
Cep192	T	C	18: 67,880,795	V2422A	probably benign	Het
Cfap73	T	A	5: 120,632,606	Q33L	probably benign	Het
Cmtm2a	A	T	8: 104,292,786	I57N	probably damaging	Het
Col6a2	T	A	10: 76,599,893	D836V	probably benign	Het
Dnah2	A	G	11: 69,430,817	V3839A	possibly damaging	Het
Enpp1	A	T	10: 24,654,919	F546L	possibly damaging	Het
Eps8l2	A	G	7: 141,360,377	T507A	probably damaging	Het
Erg28	C	T	12: 85,816,152	E129K	probably benign	Het
Erlec1	A	T	11: 30,950,591	N153K	probably benign	Het
Fam234a	T	C	17: 26,213,705	E490G	probably damaging	Het
Fat4	C	T	3: 38,949,576	R1815C	probably damaging	Het
Galnt1	T	G	18: 24,264,520	I226S	possibly damaging	Het
Gm13088	A	T	4: 143,654,635	C273S	probably damaging	Het
Ifnl2	T	A	7: 28,510,189	I58F	possibly damaging	Het
Itih5	A	G	2: 10,240,761	N554D	probably benign	Het
Kcna10	A	G	3: 107,195,078	I342V	probably benign	Het
Kif6	G	A	17: 49,832,182	E561K	probably damaging	Het
Kl	A	G	5: 150,991,538	N910S	possibly damaging	Het
Lpar2	G	T	8: 69,823,735	R58L	probably damaging	Het
Macrod2	A	G	2: 140,418,889	T27A	possibly damaging	Het
Mfsd2a	A	T	4: 122,949,327	V387D	probably damaging	Het
Npas3	A	T	12: 54,003,479	T231S	probably benign	Het
Olfr1100	A	G	2: 86,978,700	V32A	probably benign	Het
Olfr1107	A	T	2: 87,071,412	C241S	probably damaging	Het
Olfr1242	A	T	2: 89,493,468	N281K	probably damaging	Het
Olfr669	A	T	7: 104,938,759	T78S	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pde10a	A	T	17: 8,941,192	I432F	probably damaging	Het
Phka2	ACC	AC	X: 160,559,866		probably null	Het
Pomt1	G	A	2: 32,243,505	G218R	probably damaging	Het
Prdm5	C	T	6: 65,927,990	T157I	possibly damaging	Het
Psen2	T	A	1: 180,240,926	E54V	probably benign	Het
Ptpn13	C	A	5: 103,554,820	H1217Q	probably benign	Het
Ptprt	A	G	2: 161,534,564	S1306P	probably damaging	Het
Ptpru	G	T	4: 131,838,090	P23T	probably benign	Het
Rtn3	T	C	19: 7,456,692	E626G	probably damaging	Het
Scn3a	A	T	2: 65,482,278	M1191K	probably damaging	Het
Scn3a	T	A	2: 65,484,459	N1086I	probably benign	Het
Sgms2	A	T	3: 131,336,217	M174K	probably damaging	Het
Skor1	T	A	9: 63,146,064	I180F	probably damaging	Het
Slit2	T	G	5: 48,259,616	C1003W	probably damaging	Het
Tbc1d2b	T	A	9: 90,222,409	Q560L	possibly damaging	Het
Tcrg-V5	T	G	13: 19,192,525	H47Q	probably benign	Het
Themis	A	G	10: 28,722,534	I51V	probably benign	Het
Tmem203	T	C	2: 25,256,073	V135A	probably benign	Het
Tns1	T	C	1: 73,927,979	T1212A	probably benign	Het
Trim2	G	A	3: 84,167,722	A697V	probably damaging	Het
Ubxn4	T	C	1: 128,258,940	S37P	possibly damaging	Het
Vmn2r17	A	G	5: 109,452,850	I671M	possibly damaging	Het
Vmn2r94	G	T	17: 18,243,804	S741R	probably damaging	Het
Vwce	C	A	19: 10,647,067	D414E	probably benign	Het
Zfp397	T	C	18: 23,960,192	S245P	possibly damaging	Het
Zfp809	T	A	9: 22,238,931	Y241*	probably null	Het
Zfp995	C	T	17: 21,882,029	C29Y	probably benign	Het
Zfyve26	T	C	12: 79,273,373	D1066G	probably damaging	Het

Other mutations in 9130019O22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:9130019O22Rik	APN	7	127386544	unclassified	probably benign
IGL03102:9130019O22Rik	APN	7	127384779	missense	probably benign	0.01
IGL03264:9130019O22Rik	APN	7	127385639	unclassified	probably benign
R1653:9130019O22Rik	UTSW	7	127384480	missense	possibly damaging	0.71
R1692:9130019O22Rik	UTSW	7	127384480	missense	possibly damaging	0.71
R2042:9130019O22Rik	UTSW	7	127385469	missense	possibly damaging	0.93
R2132:9130019O22Rik	UTSW	7	127386935	missense	probably benign
R3768:9130019O22Rik	UTSW	7	127384863	unclassified	probably benign
R3769:9130019O22Rik	UTSW	7	127384863	unclassified	probably benign
R3770:9130019O22Rik	UTSW	7	127384863	unclassified	probably benign
R4459:9130019O22Rik	UTSW	7	127384745	missense	probably damaging	0.98
R4461:9130019O22Rik	UTSW	7	127384745	missense	probably damaging	0.98
R4839:9130019O22Rik	UTSW	7	127385007	missense	probably benign	0.32
R4903:9130019O22Rik	UTSW	7	127385406	missense	probably benign	0.02
R5231:9130019O22Rik	UTSW	7	127385414	missense	probably damaging	0.98
R5324:9130019O22Rik	UTSW	7	127384907	unclassified	probably benign
R5808:9130019O22Rik	UTSW	7	127384913	unclassified	probably benign
R6429:9130019O22Rik	UTSW	7	127385042	unclassified	probably benign
R6571:9130019O22Rik	UTSW	7	127385138	unclassified	probably benign
R6655:9130019O22Rik	UTSW	7	127384340	missense	possibly damaging	0.96
R6806:9130019O22Rik	UTSW	7	127386594	unclassified	probably benign
R6962:9130019O22Rik	UTSW	7	127384315	missense	possibly damaging	0.70
R7091:9130019O22Rik	UTSW	7	127384362	missense	possibly damaging	0.70
R7204:9130019O22Rik	UTSW	7	127384346	missense	possibly damaging	0.92
R7218:9130019O22Rik	UTSW	7	127384680	missense	probably benign	0.32
R7570:9130019O22Rik	UTSW	7	127385283	missense	probably benign	0.00
R7604:9130019O22Rik	UTSW	7	127386535	missense	unknown
R7661:9130019O22Rik	UTSW	7	127384963	nonsense	probably null
R7893:9130019O22Rik	UTSW	7	127386544	unclassified	probably benign
R8323:9130019O22Rik	UTSW	7	127384449	missense	possibly damaging	0.71
R9172:9130019O22Rik	UTSW	7	127385454	missense	probably benign	0.38
R9204:9130019O22Rik	UTSW	7	127385160	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGTGTACATGTGTGCCACC -3'
(R):5'- CATGGTCTCCCAGCAGATTG -3'

Sequencing Primer
(F):5'- CATGTGTGCCACCAGTTTGGAC -3'
(R):5'- CTGAAGCAATGCAGAAGACATTTTC -3'

Posted On

2017-01-03