Mutagenetix > Incidental Mutations

Incidental Mutation 'R5012:1810055G02Rik'

390598

Institutional Source

Beutler Lab

Gene Symbol

1810055G02Rik

Ensembl Gene

ENSMUSG00000035372

Gene Name

RIKEN cDNA 1810055G02 gene

Synonyms

MMRRC Submission

042603-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3708333-3717881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3717217 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 268 (T268K)

Ref Sequence

ENSEMBL: ENSMUSP00000047063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039048]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039048
AA Change: T268K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: T268K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	86	97	N/A	INTRINSIC
low complexity region	265	288	N/A	INTRINSIC
low complexity region	292	310	N/A	INTRINSIC
transmembrane domain	343	365	N/A	INTRINSIC

Meta Mutation Damage Score

0.0884

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 90.9%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Acsl1	A	G	8: 46,521,431	S314G	probably benign	Het
Aftph	G	A	11: 20,698,264		probably benign	Het
Ankrd34c	T	G	9: 89,729,656	I211L	probably benign	Het
Anks1b	A	G	10: 90,359,137	T560A	probably benign	Het
Carmil1	G	T	13: 24,024,420	S1247R	possibly damaging	Het
Elf1	T	A	14: 79,570,734	Y172N	probably damaging	Het
Emx1	C	T	6: 85,203,973	P224L	probably benign	Het
Fastkd2	A	T	1: 63,749,896		probably benign	Het
Fbxw27	C	A	9: 109,773,203	C234F	probably benign	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Igkv6-23	C	A	6: 70,260,545	A71S	probably damaging	Het
Igsf10	A	G	3: 59,318,722	L2510P	probably damaging	Het
Itgal	T	C	7: 127,299,630		probably null	Het
Kmt2c	C	A	5: 25,299,712	G122*	probably null	Het
Lamtor2	C	T	3: 88,552,856	R3H	possibly damaging	Het
Magi2	A	T	5: 20,465,620	T321S	probably damaging	Het
Mau2	A	G	8: 70,031,457		probably null	Het
Mcm7	A	T	5: 138,169,347		probably null	Het
Mitd1	A	T	1: 37,885,293	C59S	probably benign	Het
Muc6	A	G	7: 141,636,657	L2636P	possibly damaging	Het
Paip1	A	G	13: 119,447,802	M233V	probably benign	Het
Pcdhb11	C	A	18: 37,422,976	T453N	possibly damaging	Het
Plcb1	A	G	2: 135,333,400	N545S	probably null	Het
Prl8a9	A	T	13: 27,562,611		probably null	Het
Psmc2	A	G	5: 21,802,565	T308A	probably benign	Het
Rassf2	C	A	2: 132,009,690	R44L	probably damaging	Het
Scn11a	A	T	9: 119,780,878	M968K	probably benign	Het
Sept4	T	A	11: 87,584,404	S146T	possibly damaging	Het
Slc41a2	A	G	10: 83,301,263	I260T	probably benign	Het
Steap2	G	C	5: 5,677,784	L184V	possibly damaging	Het
Ttll5	G	A	12: 85,926,844	E776K	possibly damaging	Het
Vipr1	A	T	9: 121,658,045		probably null	Het
Yars2	T	C	16: 16,303,584	S201P	probably damaging	Het
Zfp386	T	A	12: 116,059,244	I194K	probably benign	Het
Zfp988	A	G	4: 147,331,603	I165V	probably benign	Het

Other mutations in 1810055G02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:1810055G02Rik	APN	19	3717040	missense	probably benign	0.02
IGL02883:1810055G02Rik	APN	19	3716972	missense	possibly damaging	0.83
R0909:1810055G02Rik	UTSW	19	3715788	missense	probably benign	0.00
R1482:1810055G02Rik	UTSW	19	3717192	missense	probably benign	0.01
R2158:1810055G02Rik	UTSW	19	3716608	missense	possibly damaging	0.46
R4833:1810055G02Rik	UTSW	19	3716872	missense	possibly damaging	0.87
R5557:1810055G02Rik	UTSW	19	3717501	missense	possibly damaging	0.66
R7411:1810055G02Rik	UTSW	19	3717241	missense	possibly damaging	0.92
R7573:1810055G02Rik	UTSW	19	3715728	start codon destroyed	probably null	0.04
R8164:1810055G02Rik	UTSW	19	3717454	missense	probably benign
R8265:1810055G02Rik	UTSW	19	3716568	missense	probably benign	0.00
X0026:1810055G02Rik	UTSW	19	3716826	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCAGGTGCCCAAATACAAGG -3'
(R):5'- CAATGGTGACTAGGTACTGGC -3'

Sequencing Primer
(F):5'- AAGGTACCACCGTCCAGCTG -3'
(R):5'- ACTAGGTACTGGCCTTGGG -3'

Posted On

2016-06-06