Mutagenetix > Incidental Mutations

Incidental Mutation 'R2186:4931409K22Rik'

237755

Institutional Source

Beutler Lab

Gene Symbol

4931409K22Rik

Ensembl Gene

ENSMUSG00000038199

Gene Name

RIKEN cDNA 4931409K22 gene

Synonyms

MMRRC Submission

040188-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24543432-24556809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24554526 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 82 (G82E)

Ref Sequence

ENSEMBL: ENSMUSP00000142624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088302] [ENSMUST00000198887] [ENSMUST00000200634]

Predicted Effect

probably damaging
Transcript: ENSMUST00000088302
AA Change: G82E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000085642
Gene: ENSMUSG00000038199
AA Change: G82E

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

noncoding transcript
Transcript: ENSMUST00000198709

Predicted Effect

probably damaging
Transcript: ENSMUST00000198887
AA Change: G82E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142918
Gene: ENSMUSG00000038199
AA Change: G82E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199185

Predicted Effect

probably damaging
Transcript: ENSMUST00000200634
AA Change: G82E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142624
Gene: ENSMUSG00000038199
AA Change: G82E

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,514	N29S	probably damaging	Het
Ap1b1	T	C	11: 5,015,737	V92A	possibly damaging	Het
Asgr1	G	A	11: 70,056,249	R66Q	probably benign	Het
Atp8b4	T	A	2: 126,358,860	Q796L	probably damaging	Het
Camk4	A	C	18: 33,182,341	D307A	probably damaging	Het
Catsperb	T	A	12: 101,480,782	I223K	probably benign	Het
Ccdc80	A	G	16: 45,118,105	Y725C	probably damaging	Het
Cep164	T	A	9: 45,768,578	Q1119L	probably damaging	Het
Cep85l	G	A	10: 53,348,618	P292S	probably damaging	Het
Cfap53	A	G	18: 74,329,505		probably null	Het
Cts8	C	A	13: 61,251,731	C138F	probably damaging	Het
Dis3l	C	A	9: 64,339,612	E54*	probably null	Het
Dnaja1	T	A	4: 40,732,853	D367E	probably benign	Het
Duoxa2	T	C	2: 122,299,174	I45T	probably damaging	Het
EU599041	C	T	7: 43,225,909		noncoding transcript	Het
Exoc5	T	C	14: 49,015,479	M561V	probably benign	Het
Fam184a	T	C	10: 53,638,194	I296V	probably damaging	Het
Fbxl18	C	T	5: 142,878,761	V686M	probably damaging	Het
Fryl	A	G	5: 73,064,975	S2088P	probably damaging	Het
Fus	G	A	7: 127,985,534		probably benign	Het
Gm38394	A	G	1: 133,658,079	S507P	probably damaging	Het
Gpr183	T	A	14: 121,954,315	I265L	probably benign	Het
Herc1	T	G	9: 66,439,901	L2013V	probably benign	Het
Ick	C	T	9: 78,131,487	T6M	probably benign	Het
Iqca	T	C	1: 90,081,344	K430R	probably benign	Het
Itpripl2	A	G	7: 118,491,277	C20R	probably damaging	Het
Kmt2c	C	A	5: 25,287,112	C852F	probably damaging	Het
Lamb1	A	T	12: 31,318,467	K1199*	probably null	Het
Lrba	A	G	3: 86,304,336	Y421C	probably damaging	Het
Lrig2	A	G	3: 104,468,598	L96P	probably benign	Het
Mcc	A	G	18: 44,812,078	F29S	possibly damaging	Het
Mlh1	T	C	9: 111,258,566		probably benign	Het
Mpp5	T	C	12: 78,819,371		probably benign	Het
Rbm33	A	G	5: 28,394,230	T867A	unknown	Het
Sdk1	T	A	5: 142,046,292	S1041T	probably benign	Het
Serpinb2	A	G	1: 107,523,964		probably null	Het
Serpinb9d	A	G	13: 33,203,047	N366S	possibly damaging	Het
Sf3b1	A	G	1: 55,007,633	S251P	probably benign	Het
Slc45a1	T	C	4: 150,638,251	Y392C	probably benign	Het
Tlr4	T	A	4: 66,839,983	C338S	possibly damaging	Het
Trio	A	G	15: 27,823,975		probably null	Het
Vnn1	A	T	10: 23,897,401	I109L	probably benign	Het
Wnk1	A	G	6: 119,948,567	V1312A	probably benign	Het
Zfp28	A	G	7: 6,394,498	H644R	probably damaging	Het
Zfp286	A	G	11: 62,780,461	V262A	probably damaging	Het
Zfp292	A	T	4: 34,807,962	M1694K	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
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
R3910:4931409K22Rik	UTSW	5	24545442	splice site	probably benign
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'- AAAGCACCCCAGTTCCTGAG -3'
(R):5'- ATCTGTGCTCGAACCTGTGC -3'

Sequencing Primer
(F):5'- TCCTGAGAGTCTAAATTCCAAGTCC -3'
(R):5'- TCGAACCTGTGCCCAGC -3'

Posted On

2014-10-02