Mutagenetix > Incidental Mutation

Incidental Mutation 'R0849:1300017J02Rik'

77081

Institutional Source

Beutler Lab

Gene Symbol

1300017J02Rik

Ensembl Gene

ENSMUSG00000033688

Gene Name

RIKEN cDNA 1300017J02 gene

Synonyms

mICA

MMRRC Submission

039028-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R0849 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103250521-103305082 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103263057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 488 (Y488D)

Ref Sequence

ENSEMBL: ENSMUSP00000035163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035163] [ENSMUST00000123530]

AlphaFold

Q9DBD0

PDB Structure

Crystal Structure of the Murine Inhibitor of Carbonic Anhydrase [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035163
AA Change: Y488D

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: Y488D

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
TR_FER	25	352	5.48e-163	SMART
TR_FER	355	697	3.26e-179	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123530
AA Change: Y410D

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: Y410D

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
TR_FER	25	351	3.67e-164	SMART
TR_FER	352	619	5.89e-104	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000154357
AA Change: Y51D

SMART Domains

Protein: ENSMUSP00000123519
Gene: ENSMUSG00000033688
AA Change: Y51D

Domain	Start	End	E-Value	Type
TR_FER	1	242	5.88e-81	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.5%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	T	C	12: 52,519,623	F1126L	probably benign	Het
Arhgef11	G	T	3: 87,735,896	A1472S	probably benign	Het
Armc9	G	A	1: 86,257,270	R681K	probably benign	Het
Atxn2	T	A	5: 121,747,421		probably null	Het
B3gnt6	C	A	7: 98,194,743	L3F	probably benign	Het
Cand2	A	G	6: 115,792,391	T721A	probably damaging	Het
Cntn2	A	T	1: 132,522,386	M590K	probably benign	Het
Cntn4	A	T	6: 106,667,457	D622V	probably damaging	Het
Des	T	G	1: 75,360,628	S71A	probably benign	Het
Dnah5	C	A	15: 28,263,599	R827S	probably damaging	Het
Dstn	G	A	2: 143,938,535	G52S	probably benign	Het
Eln	T	A	5: 134,707,981	R704*	probably null	Het
Fezf2	T	A	14: 12,342,607	K419N	probably damaging	Het
Gm2381	G	A	7: 42,819,948	Q251*	probably null	Het
Gm9268	A	G	7: 43,024,718	Y400C	probably damaging	Het
Grin3a	G	A	4: 49,665,501	R1045*	probably null	Het
Herc2	T	A	7: 56,206,578	H3921Q	probably damaging	Het
Hs3st2	A	G	7: 121,501,032	E367G	possibly damaging	Het
Hydin	G	A	8: 110,598,984	R4675H	probably damaging	Het
Irf2bp1	T	C	7: 19,004,734	S100P	possibly damaging	Het
Itga10	A	G	3: 96,652,530	I500M	possibly damaging	Het
Kcnt2	T	C	1: 140,507,762	V496A	probably damaging	Het
Mansc1	T	C	6: 134,610,707	D169G	probably benign	Het
Mdn1	T	A	4: 32,741,835	S3869T	probably damaging	Het
Mrgprb4	G	A	7: 48,199,120	T20I	probably benign	Het
Nek4	A	G	14: 30,957,296	E198G	probably damaging	Het
Olfr1120	G	T	2: 87,358,265	V274L	probably benign	Het
Olfr1131	C	A	2: 87,629,282	T273K	possibly damaging	Het
Olfr1380	G	A	11: 49,564,302	C127Y	probably damaging	Het
Ppfia4	A	T	1: 134,319,372	F537I	probably benign	Het
Rarb	A	G	14: 16,434,293	V295A	probably damaging	Het
Ryr1	A	G	7: 29,040,679	S3941P	probably damaging	Het
Scnn1b	A	G	7: 121,912,475	N370S	probably damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Sv2c	C	T	13: 95,989,811	G311D	probably damaging	Het
Tas2r109	T	C	6: 132,980,893	I25V	probably benign	Het
Tbcel	A	C	9: 42,437,157	I305S	probably damaging	Het
Tmem35b	A	G	4: 127,126,197		probably null	Het
Tmem38b	T	C	4: 53,840,765	L60S	probably damaging	Het
Tmtc4	A	G	14: 122,945,554	I244T	possibly damaging	Het
Usp9y	C	A	Y: 1,394,002	C576F	probably damaging	Het
Vcan	A	T	13: 89,704,953	N629K	possibly damaging	Het
Vmn2r22	T	C	6: 123,637,404	Y409C	probably damaging	Het

Other mutations in 1300017J02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:1300017J02Rik	APN	9	103254776	missense	possibly damaging	0.48
IGL02370:1300017J02Rik	APN	9	103263074	missense	probably benign	0.27
IGL02899:1300017J02Rik	APN	9	103277574	missense	probably damaging	1.00
R0206:1300017J02Rik	UTSW	9	103282662	missense	probably damaging	1.00
R0206:1300017J02Rik	UTSW	9	103282662	missense	probably damaging	1.00
R0831:1300017J02Rik	UTSW	9	103269779	missense	possibly damaging	0.50
R1225:1300017J02Rik	UTSW	9	103254839	splice site	probably benign
R2061:1300017J02Rik	UTSW	9	103268314	missense	probably benign	0.01
R2176:1300017J02Rik	UTSW	9	103259367	splice site	probably benign
R4915:1300017J02Rik	UTSW	9	103251855	nonsense	probably null
R4917:1300017J02Rik	UTSW	9	103251855	nonsense	probably null
R5020:1300017J02Rik	UTSW	9	103282502	missense	probably benign	0.02
R5033:1300017J02Rik	UTSW	9	103279414	missense	probably benign	0.36
R5087:1300017J02Rik	UTSW	9	103266221	missense	probably damaging	0.98
R5174:1300017J02Rik	UTSW	9	103282556	splice site	probably null
R6283:1300017J02Rik	UTSW	9	103282635	nonsense	probably null
R7092:1300017J02Rik	UTSW	9	103281043	missense	possibly damaging	0.55
R7175:1300017J02Rik	UTSW	9	103251789	critical splice donor site	probably null
R7347:1300017J02Rik	UTSW	9	103282646	missense	possibly damaging	0.67
R7380:1300017J02Rik	UTSW	9	103279481	nonsense	probably null
R7400:1300017J02Rik	UTSW	9	103250662	missense	probably benign	0.25
R7460:1300017J02Rik	UTSW	9	103254648	missense	probably benign	0.00
R7993:1300017J02Rik	UTSW	9	103263133	missense	probably benign
R8056:1300017J02Rik	UTSW	9	103266224	missense	probably damaging	1.00
R8686:1300017J02Rik	UTSW	9	103259428	missense	probably benign	0.00
R8869:1300017J02Rik	UTSW	9	103272632	missense	probably damaging	1.00
R9371:1300017J02Rik	UTSW	9	103281053	missense	probably benign	0.01
R9448:1300017J02Rik	UTSW	9	103272582	missense	probably benign
R9719:1300017J02Rik	UTSW	9	103254815	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- TGGAGTTCACTTTCTGTCAAGCCC -3'
(R):5'- CTCCCATTGTCACAGATCCTGAACC -3'

Sequencing Primer
(F):5'- TTCTGTCAAGCCCATGACC -3'
(R):5'- TATGTAGTTTCAGCACACCAGC -3'

Posted On

2013-10-16