Mutagenetix > Incidental Mutation

Incidental Mutation 'R8034:C130026I21Rik'

618109

Institutional Source

Beutler Lab

Gene Symbol

C130026I21Rik

Ensembl Gene

ENSMUSG00000052477

Gene Name

RIKEN cDNA C130026I21 gene

Synonyms

OTTMUSG00000029174

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.423) 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 (GRCm38)

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]

AlphaFold

Q8C898

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	splice site	probably null
R7675:C130026I21Rik	UTSW	1	85247015	missense	probably benign
R7784:C130026I21Rik	UTSW	1	85212474	splice site	probably null
R7839:C130026I21Rik	UTSW	1	85247015	missense	probably benign
R8010:C130026I21Rik	UTSW	1	85246950	missense	possibly damaging	0.53
R8382:C130026I21Rik	UTSW	1	85246950	missense	possibly damaging	0.53
R8431:C130026I21Rik	UTSW	1	85257449	missense	probably benign	0.00
R8690:C130026I21Rik	UTSW	1	85257449	missense	probably benign	0.00
R8951:C130026I21Rik	UTSW	1	85246950	missense	possibly damaging	0.53
R9150:C130026I21Rik	UTSW	1	85113638	missense	probably damaging	0.96
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