Mutagenetix > Incidental Mutations

Incidental Mutation 'R3910:4931409K22Rik'

309333

Institutional Source

Beutler Lab

Gene Symbol

4931409K22Rik

Ensembl Gene

ENSMUSG00000038199

Gene Name

RIKEN cDNA 4931409K22 gene

Synonyms

MMRRC Submission

040815-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R3910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24543432-24556809 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 24545442 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048302] [ENSMUST00000088302] [ENSMUST00000117900] [ENSMUST00000119657] [ENSMUST00000200634]

Predicted Effect

probably benign
Transcript: ENSMUST00000048302

SMART Domains

Protein: ENSMUSP00000041539
Gene: ENSMUSG00000038204

Domain	Start	End	E-Value	Type
ANK	115	144	2.62e-4	SMART
ANK	147	176	3.51e-5	SMART
ANK	180	209	7.99e2	SMART
ANK	214	243	1.44e-1	SMART
ANK	247	289	2.39e2	SMART
ANK	293	322	3.01e-4	SMART
ANK	326	362	1.46e2	SMART
SOCS_box	422	461	6.77e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088302

SMART Domains

Protein: ENSMUSP00000085642
Gene: ENSMUSG00000038199

Domain	Start	End	E-Value	Type
low complexity region	46	54	N/A	INTRINSIC
low complexity region	70	77	N/A	INTRINSIC
low complexity region	184	198	N/A	INTRINSIC
IQ	205	227	7.58e-2	SMART
coiled coil region	335	382	N/A	INTRINSIC
coiled coil region	429	450	N/A	INTRINSIC
low complexity region	467	484	N/A	INTRINSIC
Pfam:AAA	568	700	1.6e-14	PFAM
low complexity region	819	825	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117900

SMART Domains

Protein: ENSMUSP00000112743
Gene: ENSMUSG00000038204

Domain	Start	End	E-Value	Type
ANK	100	129	2.62e-4	SMART
ANK	132	161	3.51e-5	SMART
ANK	165	194	7.99e2	SMART
ANK	199	228	1.44e-1	SMART
ANK	232	274	2.39e2	SMART
ANK	278	307	3.01e-4	SMART
ANK	311	347	1.46e2	SMART
SOCS_box	407	446	6.77e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119657

SMART Domains

Protein: ENSMUSP00000113328
Gene: ENSMUSG00000038204

Domain	Start	End	E-Value	Type
ANK	115	144	2.62e-4	SMART
ANK	147	176	3.51e-5	SMART
ANK	180	209	7.99e2	SMART
ANK	214	243	1.44e-1	SMART
ANK	247	289	2.39e2	SMART
ANK	293	322	3.01e-4	SMART
ANK	326	362	1.46e2	SMART
SOCS_box	384	423	6.77e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199185

Predicted Effect

probably benign
Transcript: ENSMUST00000200634

SMART Domains

Protein: ENSMUSP00000142624
Gene: ENSMUSG00000038199

Domain	Start	End	E-Value	Type
low complexity region	46	54	N/A	INTRINSIC
low complexity region	70	77	N/A	INTRINSIC
low complexity region	184	198	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
9030624J02Rik	A	G	7: 118,746,390	T49A	possibly damaging	Het
Bod1l	T	C	5: 41,817,098	E2291G	probably damaging	Het
Cchcr1	T	C	17: 35,525,336	V341A	probably damaging	Het
Dsg1c	T	C	18: 20,266,196	V119A	possibly damaging	Het
Fap	A	G	2: 62,556,104	S58P	probably damaging	Het
Flnc	A	T	6: 29,459,427	T2509S	probably damaging	Het
Fnip2	A	T	3: 79,479,505	D971E	possibly damaging	Het
Gab2	A	G	7: 97,299,073	Y290C	probably damaging	Het
Gm7104	C	T	12: 88,284,594		noncoding transcript	Het
Ints10	T	A	8: 68,813,620	S478T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt90	G	A	15: 101,562,783	R15W	probably damaging	Het
Lgr5	A	G	10: 115,587,463	S11P	possibly damaging	Het
Mycn	T	A	12: 12,937,280	N372I	probably damaging	Het
Olfr459	A	G	6: 41,772,149	V50A	probably benign	Het
Olfr700	A	T	7: 106,805,865	V199D	probably damaging	Het
Paxbp1	T	A	16: 91,042,681	E117V	probably damaging	Het
Phc2	T	C	4: 128,743,558		probably null	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Rev3l	A	G	10: 39,820,556	I521M	probably damaging	Het
Robo3	A	T	9: 37,419,295	Y1002N	probably damaging	Het
Svep1	A	T	4: 58,145,156		probably null	Het
Thsd7a	A	G	6: 12,331,549	V1342A	probably damaging	Het
Tmtc3	A	C	10: 100,449,026	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,256,182		probably benign	Het
Trim30a	A	G	7: 104,411,141	V476A	probably damaging	Het
Ugt1a8	A	G	1: 88,088,048	E61G	possibly damaging	Het
Vmn1r75	A	T	7: 11,880,830	N163I	possibly damaging	Het
Zfp119a	G	A	17: 55,866,520	L108F	probably benign	Het

Other mutations in 4931409K22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01383:4931409K22Rik	APN	5	24548294	missense	probably benign	0.03
IGL02110:4931409K22Rik	APN	5	24548084	splice site	probably benign
R0329:4931409K22Rik	UTSW	5	24545785	splice site	probably null
R0492:4931409K22Rik	UTSW	5	24554628	missense	probably damaging	1.00
R0585:4931409K22Rik	UTSW	5	24550723	missense	probably benign
R0656:4931409K22Rik	UTSW	5	24549762	missense	possibly damaging	0.67
R0894:4931409K22Rik	UTSW	5	24550733	splice site	probably null
R1546:4931409K22Rik	UTSW	5	24555428	splice site	probably null
R1642:4931409K22Rik	UTSW	5	24552688	missense	probably damaging	1.00
R1998:4931409K22Rik	UTSW	5	24545006	missense	probably benign	0.01
R2090:4931409K22Rik	UTSW	5	24550676	missense	probably benign	0.15
R2186:4931409K22Rik	UTSW	5	24554526	missense	probably damaging	1.00
R2237:4931409K22Rik	UTSW	5	24548294	missense	probably benign	0.03
R2256:4931409K22Rik	UTSW	5	24552040	utr 3 prime	probably benign
R2257:4931409K22Rik	UTSW	5	24552040	utr 3 prime	probably benign
R3078:4931409K22Rik	UTSW	5	24546666	missense	probably benign
R3522:4931409K22Rik	UTSW	5	24549626	critical splice donor site	probably null
R3911:4931409K22Rik	UTSW	5	24545442	splice site	probably benign
R4333:4931409K22Rik	UTSW	5	24544370	missense	probably damaging	1.00
R4335:4931409K22Rik	UTSW	5	24544370	missense	probably damaging	1.00
R4500:4931409K22Rik	UTSW	5	24548277	missense	possibly damaging	0.85
R4761:4931409K22Rik	UTSW	5	24551983	missense	probably benign
R4773:4931409K22Rik	UTSW	5	24550598	critical splice donor site	probably null
R4880:4931409K22Rik	UTSW	5	24549752	missense	probably benign
R5614:4931409K22Rik	UTSW	5	24550142	missense	probably benign	0.03
R5839:4931409K22Rik	UTSW	5	24552026	missense	probably damaging	0.98
R5847:4931409K22Rik	UTSW	5	24544166	missense	probably benign	0.16
R7061:4931409K22Rik	UTSW	5	24545065	missense	probably benign	0.00
R7131:4931409K22Rik	UTSW	5	24548956	missense	possibly damaging	0.81
R7156:4931409K22Rik	UTSW	5	24552650	missense	probably benign	0.05
R7248:4931409K22Rik	UTSW	5	24544271	missense	probably benign	0.00
R7480:4931409K22Rik	UTSW	5	24546906	missense	probably damaging	1.00
R7693:4931409K22Rik	UTSW	5	24546628	missense	probably benign	0.01
R7782:4931409K22Rik	UTSW	5	24544226	missense	probably damaging	0.98
R7814:4931409K22Rik	UTSW	5	24545422	missense	possibly damaging	0.95
R7898:4931409K22Rik	UTSW	5	24553645	missense	probably damaging	1.00
R8024:4931409K22Rik	UTSW	5	24550636	missense	possibly damaging	0.70
R8172:4931409K22Rik	UTSW	5	24543610	missense	probably benign
R8281:4931409K22Rik	UTSW	5	24549010	missense	probably benign	0.02
R8511:4931409K22Rik	UTSW	5	24545908	missense	possibly damaging	0.95
X0063:4931409K22Rik	UTSW	5	24549765	splice site	probably null
Z1177:4931409K22Rik	UTSW	5	24550795	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTGAATGACTTGAGCAAGACTTCC -3'
(R):5'- ACAGCAGGGTGGGATTTCTG -3'

Sequencing Primer
(F):5'- TTGAGCAAGACTTCCAGCCTG -3'
(R):5'- GAATCTTTCCAGTAACTCCTGTGGG -3'

Posted On

2015-04-17