Mutagenetix > Incidental Mutation

Incidental Mutation 'R7990:C130050O18Rik'

651684

Institutional Source

Beutler Lab

Gene Symbol

C130050O18Rik

Ensembl Gene

ENSMUSG00000044092

Gene Name

RIKEN cDNA C130050O18 gene

Synonyms

MMRRC Submission

046031-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139391035-139401378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139400672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 242 (T242A)

Ref Sequence

ENSEMBL: ENSMUSP00000055600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052176] [ENSMUST00000066052] [ENSMUST00000163940] [ENSMUST00000164078] [ENSMUST00000198474]

AlphaFold

Q497Y9

Predicted Effect

probably benign
Transcript: ENSMUST00000052176
AA Change: T242A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000055600
Gene: ENSMUSG00000044092
AA Change: T242A

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
transmembrane domain	100	119	N/A	INTRINSIC
transmembrane domain	131	153	N/A	INTRINSIC
transmembrane domain	173	195	N/A	INTRINSIC
transmembrane domain	222	244	N/A	INTRINSIC
transmembrane domain	259	281	N/A	INTRINSIC
low complexity region	320	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066052

SMART Domains

Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553

Domain	Start	End	E-Value	Type
low complexity region	54	77	N/A	INTRINSIC
Pfam:DUF2373	103	165	3e-26	PFAM
low complexity region	184	194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163940
AA Change: T242A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000127769
Gene: ENSMUSG00000044092
AA Change: T242A

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
transmembrane domain	100	119	N/A	INTRINSIC
transmembrane domain	131	153	N/A	INTRINSIC
transmembrane domain	173	195	N/A	INTRINSIC
transmembrane domain	222	244	N/A	INTRINSIC
transmembrane domain	259	281	N/A	INTRINSIC
low complexity region	320	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164078

Predicted Effect

probably benign
Transcript: ENSMUST00000198474

SMART Domains

Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553

Domain	Start	End	E-Value	Type
low complexity region	54	77	N/A	INTRINSIC
Pfam:DUF2373	102	141	9e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 89,970,549 (GRCm39)	V28I	probably damaging	Het
Abcd4	G	T	12: 84,651,162 (GRCm39)		probably null	Het
Alg2	T	C	4: 47,472,308 (GRCm39)	T167A	probably damaging	Het
Asap1	T	C	15: 64,044,586 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,024,079 (GRCm39)	C1730*	probably null	Het
Atp8b1	T	C	18: 64,671,748 (GRCm39)	T1092A	possibly damaging	Het
Ccdc88c	A	G	12: 100,934,244 (GRCm39)	V211A	probably damaging	Het
Ccnl1	A	G	3: 65,854,314 (GRCm39)	S436P	possibly damaging	Het
Cgnl1	T	C	9: 71,632,547 (GRCm39)	E268G	probably damaging	Het
Clca4b	T	G	3: 144,634,103 (GRCm39)	D104A	probably damaging	Het
Col6a3	T	G	1: 90,709,577 (GRCm39)	K2480T	unknown	Het
Cryba1	T	C	11: 77,614,411 (GRCm39)	T21A	possibly damaging	Het
Csn1s1	C	T	5: 87,827,912 (GRCm39)	A259V	possibly damaging	Het
Dap3	A	C	3: 88,835,814 (GRCm39)	Y206*	probably null	Het
Etnppl	T	C	3: 130,424,308 (GRCm39)	I360T	possibly damaging	Het
Gal3st3	A	T	19: 5,352,617 (GRCm39)	M15L	probably benign	Het
Gdf5	A	G	2: 155,783,749 (GRCm39)	V401A	probably damaging	Het
Gm1110	A	G	9: 26,792,137 (GRCm39)	S628P	possibly damaging	Het
Gm9493	A	T	19: 23,597,397 (GRCm39)	I98F	possibly damaging	Het
Grin2a	T	C	16: 9,397,040 (GRCm39)	K1016E	possibly damaging	Het
Hdac9	T	C	12: 34,265,452 (GRCm39)	N850D	probably benign	Het
Itsn2	C	A	12: 4,685,629 (GRCm39)	L466I	unknown	Het
Jkampl	T	C	6: 73,446,528 (GRCm39)	Y7C	probably damaging	Het
Kcnj16	C	A	11: 110,915,886 (GRCm39)	R183S	probably damaging	Het
Kcnk2	A	C	1: 188,942,102 (GRCm39)	L389R	probably damaging	Het
Kdm4c	A	C	4: 74,309,685 (GRCm39)	K949N	probably damaging	Het
Kif3b	G	A	2: 153,159,383 (GRCm39)	E395K	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Map3k1	A	T	13: 111,892,696 (GRCm39)	M853K	probably benign	Het
Metap1	T	G	3: 138,186,526 (GRCm39)	T68P	probably benign	Het
Mfsd11	T	C	11: 116,750,323 (GRCm39)	V114A	possibly damaging	Het
Mroh1	G	A	15: 76,336,475 (GRCm39)	R1566H	probably damaging	Het
Msh4	A	T	3: 153,602,529 (GRCm39)	M233K	probably damaging	Het
Ncor1	T	G	11: 62,240,321 (GRCm39)		probably null	Het
Npl	A	T	1: 153,413,230 (GRCm39)	V29D	possibly damaging	Het
Or1e29	C	T	11: 73,667,497 (GRCm39)	V219I	probably benign	Het
Osmr	T	C	15: 6,881,948 (GRCm39)	I65M	possibly damaging	Het
Rabepk	C	T	2: 34,670,720 (GRCm39)	V247I	probably benign	Het
Rere	C	T	4: 150,699,327 (GRCm39)	P804S	unknown	Het
Rpgrip1	A	T	14: 52,366,975 (GRCm39)	Y265F	possibly damaging	Het
Slc10a1	T	C	12: 81,000,554 (GRCm39)	D315G	probably benign	Het
Smc5	A	T	19: 23,213,246 (GRCm39)	N555K	probably benign	Het
Spata17	T	A	1: 186,872,592 (GRCm39)	H26L	unknown	Het
Sphkap	C	T	1: 83,245,066 (GRCm39)	D1518N	probably damaging	Het
Sult2a6	A	T	7: 13,959,795 (GRCm39)	M246K	possibly damaging	Het
Tmx2	A	G	2: 84,506,480 (GRCm39)	F71L	probably damaging	Het
Ush2a	T	A	1: 188,274,996 (GRCm39)	L1823Q	probably benign	Het
Virma	T	A	4: 11,513,983 (GRCm39)	D612E	probably benign	Het
Wdfy4	A	T	14: 32,819,752 (GRCm39)	L1484Q		Het
Zan	A	G	5: 137,391,352 (GRCm39)	S4711P	unknown	Het
Zdhhc1	A	G	8: 106,203,001 (GRCm39)		probably null	Het
Zfp971	C	T	2: 177,675,361 (GRCm39)	T320I	probably damaging	Het

Other mutations in C130050O18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:C130050O18Rik	APN	5	139,400,601 (GRCm39)	missense	probably damaging	1.00
IGL00325:C130050O18Rik	APN	5	139,400,493 (GRCm39)	missense	probably damaging	1.00
IGL03108:C130050O18Rik	APN	5	139,400,820 (GRCm39)	missense	probably damaging	1.00
R0316:C130050O18Rik	UTSW	5	139,400,313 (GRCm39)	missense	probably damaging	1.00
R1635:C130050O18Rik	UTSW	5	139,400,248 (GRCm39)	missense	probably benign	0.02
R4912:C130050O18Rik	UTSW	5	139,400,144 (GRCm39)	missense	probably benign	0.17
R6299:C130050O18Rik	UTSW	5	139,400,126 (GRCm39)	missense	probably damaging	1.00
R7203:C130050O18Rik	UTSW	5	139,400,129 (GRCm39)	missense	probably benign	0.13
R7310:C130050O18Rik	UTSW	5	139,400,993 (GRCm39)	missense	probably benign	0.00
R9027:C130050O18Rik	UTSW	5	139,400,301 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTCTGCCGGAATCACCCTG -3'
(R):5'- AGGTTCATGAGCAGTTCATCC -3'

Sequencing Primer
(F):5'- AAGCCTAGCTGCCATTGG -3'
(R):5'- TTCATGAGCAGTTCATCCCAGGG -3'

Posted On

2020-09-15