Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:9130019O22Rik'

550213

Institutional Source

Beutler Lab

Gene Symbol

9130019O22Rik

Ensembl Gene

ENSMUSG00000030823

Gene Name

RIKEN cDNA 9130019O22 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127382260-127387166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127384362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 523 (A523S)

Ref Sequence

ENSEMBL: ENSMUSP00000038195 (fasta)

Gene Model

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

AlphaFold

G3X941

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049052
AA Change: A523S

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038195
Gene: ENSMUSG00000030823
AA Change: A523S

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

Coding Region Coverage

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

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	C	3: 40,916,738	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,940,806	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Ivl	T	C	3: 92,572,242	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	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
R5735:9130019O22Rik	UTSW	7	127385407	missense	possibly damaging	0.60
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
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'- AACGTCTGTGACTTCTGGAG -3'
(R):5'- CGCATCCATACAGGTGAAAAGC -3'

Sequencing Primer
(F):5'- CTGGAGGATGCTATAGGTCATTCTC -3'
(R):5'- GGTGAAAAGCCTTATTCATGCCCTG -3'

Posted On

2019-05-15