Mutagenetix > Incidental Mutation

Incidental Mutation 'R6429:9130019O22Rik'

518431

Institutional Source

Beutler Lab

Gene Symbol

9130019O22Rik

Ensembl Gene

ENSMUSG00000030823

Gene Name

RIKEN cDNA 9130019O22 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127382260-127387166 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 127385042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126288 (fasta)

Gene Model

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

AlphaFold

G3X941

Predicted Effect

unknown
Transcript: ENSMUST00000049052
AA Change: D296G

SMART Domains

Protein: ENSMUSP00000038195
Gene: ENSMUSG00000030823
AA Change: D296G

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	A	5: 114,228,591	E1565K	probably damaging	Het
Amy1	T	C	3: 113,569,509	N63S	probably damaging	Het
Arhgef15	G	T	11: 68,947,796	N591K	probably damaging	Het
AW551984	A	G	9: 39,600,614	S34P	probably damaging	Het
C2cd3	A	G	7: 100,432,091	D127G	probably damaging	Het
Ccdc87	T	A	19: 4,841,235	V585E	probably benign	Het
Cul2	T	C	18: 3,421,345	I223T	probably damaging	Het
Dgkq	C	T	5: 108,653,708	V495M	probably damaging	Het
Dpp10	A	G	1: 123,367,601	I570T	possibly damaging	Het
Dstyk	C	T	1: 132,449,804	Q383*	probably null	Het
Emilin2	C	A	17: 71,310,956		probably benign	Het
Fnip1	A	G	11: 54,515,567	I1163M	probably damaging	Het
Fryl	C	T	5: 73,090,751	E1008K	possibly damaging	Het
Gm15448	A	T	7: 3,822,346	H432Q	possibly damaging	Het
Gm35315	A	T	5: 110,078,659	Y305N	possibly damaging	Het
Grhl3	T	A	4: 135,557,196	D195V	probably damaging	Het
Il33	T	C	19: 29,952,000	F41S	probably benign	Het
Il4	A	G	11: 53,613,909	S15P	possibly damaging	Het
Inf2	C	T	12: 112,604,256	P410S	probably benign	Het
Kalrn	T	A	16: 34,332,164	D349V	possibly damaging	Het
Krt4	A	G	15: 101,922,794	M224T	probably benign	Het
Lrp2	C	T	2: 69,461,287	S3516N	probably damaging	Het
Macf1	A	T	4: 123,401,594		probably null	Het
Msr1	G	A	8: 39,615,817	P213S	probably damaging	Het
Nptx1	G	T	11: 119,544,721	C256*	probably null	Het
Nr1d1	T	C	11: 98,772,014	Y51C	probably damaging	Het
Olfr1205	G	A	2: 88,831,525	R136Q	probably benign	Het
Panx3	T	C	9: 37,661,165	D363G	probably damaging	Het
Prkag1	A	G	15: 98,814,523	F143L	probably damaging	Het
Ptger4	T	C	15: 5,242,997	K72R	possibly damaging	Het
Pvrig	A	G	5: 138,342,050	T28A	probably benign	Het
Rhod	C	T	19: 4,426,105	C206Y	probably benign	Het
Rngtt	C	A	4: 33,320,606	S51*	probably null	Het
Rreb1	T	G	13: 37,932,129	S1155A	probably benign	Het
Scn9a	A	C	2: 66,526,963	I998S	possibly damaging	Het
Sfmbt1	T	A	14: 30,773,911	F50L	probably damaging	Het
Six4	A	T	12: 73,103,473	V766D	probably damaging	Het
Smpd1	T	C	7: 105,556,928	I421T	probably damaging	Het
Son	T	A	16: 91,658,166	M1267K	probably benign	Het
Styk1	T	A	6: 131,310,064	D156V	possibly damaging	Het
Supt3	A	G	17: 45,119,143	E361G	probably benign	Het
Tbx3	T	A	5: 119,674,191	Y185*	probably null	Het
Tmem2	T	C	19: 21,801,908	C361R	probably benign	Het
Trpm1	A	T	7: 64,268,504	T531S	probably benign	Het
Tspan32	T	A	7: 143,018,742	W172R	possibly damaging	Het
Ttc26	T	A	6: 38,398,313	S250T	possibly damaging	Het
Urb1	A	T	16: 90,762,430		probably null	Het
Vmn2r70	T	A	7: 85,559,068	I734F	probably damaging	Het
Vwa7	A	G	17: 35,024,199	T618A	probably benign	Het
Wac	T	A	18: 7,920,163	V339E	probably damaging	Het
Wrn	G	A	8: 33,342,996	T156M	probably damaging	Het
Zeb1	T	A	18: 5,770,498	C884S	probably damaging	Het
Zmpste24	A	G	4: 121,095,670	V10A	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
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'- GCAATCAGGGCAATTGAATGAC -3'
(R):5'- TTTACCCAGCGGTCCAAACTG -3'

Sequencing Primer
(F):5'- CAGGGCAATTGAATGACTTTTCGC -3'
(R):5'- GAAAAGCCGTTTCAGTGCC -3'

Posted On

2018-05-24