Mutagenetix > Incidental Mutations

Incidental Mutation 'R8034:C130026I21Rik'

618109

Institutional Source

Beutler Lab

Gene Symbol

C130026I21Rik

Ensembl Gene

ENSMUSG00000052477

Gene Name

RIKEN cDNA C130026I21 gene

Synonyms

OTTMUSG00000029174

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R8034 (G1)

Quality Score

195.009

Status

Not validated

Chromosome

Chromosomal Location

84992690-85270566 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85254160 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 180 (T180S)

Ref Sequence

ENSEMBL: ENSMUSP00000091224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064341] [ENSMUST00000093506] [ENSMUST00000159582] [ENSMUST00000161267] [ENSMUST00000162421]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064341
AA Change: T152S

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066587
Gene: ENSMUSG00000052477
AA Change: T152S

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	125	2.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093506
AA Change: T180S

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091224
Gene: ENSMUSG00000052477
AA Change: T180S

Domain	Start	End	E-Value	Type
Pfam:Sp100	24	122	1.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159582
AA Change: T152S

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125160
Gene: ENSMUSG00000052477
AA Change: T152S

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	125	6.1e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161267

SMART Domains

Protein: ENSMUSP00000124435
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	119	1.8e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162421

SMART Domains

Protein: ENSMUSP00000125215
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	40	135	2.2e-39	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Ccdc80	A	G	16: 45,122,875	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856	F41L	probably benign	Het
Eif3e	A	T	15: 43,272,307	M112K	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lcn6	T	A	2: 25,676,871	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551	L783F	probably damaging	Het
Mlf1	A	T	3: 67,384,588	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,735,089	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Tead3	A	C	17: 28,333,229	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	probably damaging	Het

Other mutations in C130026I21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01866:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01876:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01880:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01883:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01886:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01888:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01893:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01898:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01906:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01908:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01909:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01916:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01918:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01920:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01923:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01928:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01933:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01945:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01949:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01951:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01952:C130026I21Rik	APN	1	85254186	intron	probably benign
PIT4131001:C130026I21Rik	UTSW	1	85245674	intron	probably benign
PIT4142001:C130026I21Rik	UTSW	1	85245674	intron	probably benign
R0067:C130026I21Rik	UTSW	1	85270052	missense	probably benign	0.00
R0367:C130026I21Rik	UTSW	1	85270103	start gained	probably benign
R0389:C130026I21Rik	UTSW	1	85270052	missense	probably benign	0.00
R1284:C130026I21Rik	UTSW	1	85270055	missense	probably damaging	0.98
R1620:C130026I21Rik	UTSW	1	85254186	intron	probably benign
R1622:C130026I21Rik	UTSW	1	85254186	intron	probably benign
R1671:C130026I21Rik	UTSW	1	85257385	critical splice donor site	probably null
R3115:C130026I21Rik	UTSW	1	85257385	intron	probably benign
R4120:C130026I21Rik	UTSW	1	85259821	missense	possibly damaging	0.82
R4223:C130026I21Rik	UTSW	1	85112557	missense	probably damaging	0.98
R4947:C130026I21Rik	UTSW	1	85112482	missense	probably damaging	1.00
R4996:C130026I21Rik	UTSW	1	85247094	missense	probably benign	0.12
R5152:C130026I21Rik	UTSW	1	85261860	missense	probably benign	0.04
R6614:C130026I21Rik	UTSW	1	85202060	intron	probably null
R7675:C130026I21Rik	UTSW	1	85247015	missense	probably benign
R7784:C130026I21Rik	UTSW	1	85212474	intron	probably null
R7839:C130026I21Rik	UTSW	1	85247015	missense	probably benign
R8010:C130026I21Rik	UTSW	1	85246950	missense	possibly damaging	0.53
Z1176:C130026I21Rik	UTSW	1	85113523	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGACCGTCTCTTCATGGTG -3'
(R):5'- TCAGGCGAAGTCATAGAGGC -3'

Sequencing Primer
(F):5'- CTTCATGGTGATGTGCATACAGAGC -3'
(R):5'- TCAATCCTTTGGTGACAGAGAAG -3'

Posted On

2020-01-23