Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02326:Rita1'

288500

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rita1

Ensembl Gene

ENSMUSG00000029600

Gene Name

RBPJ interacting and tubulin associated 1

Synonyms

1110008J03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

IGL02326

Quality Score

Status

Chromosome

Chromosomal Location

120747123-120750654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120747858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 147 (A147T)

Ref Sequence

ENSEMBL: ENSMUSP00000136946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031598] [ENSMUST00000031599] [ENSMUST00000069259] [ENSMUST00000094391] [ENSMUST00000111884] [ENSMUST00000140554] [ENSMUST00000177800] [ENSMUST00000156356]

AlphaFold

Q9D1H0

Predicted Effect

probably benign
Transcript: ENSMUST00000031598

SMART Domains

Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Blast:DEXDc	59	101	9e-19	BLAST
DEXDc	114	313	3.5e-58	SMART
HELICc	347	432	7.86e-20	SMART
low complexity region	628	646	N/A	INTRINSIC
DBP10CT	706	766	1.45e-25	SMART
low complexity region	778	801	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000031599
AA Change: A147T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031599
Gene: ENSMUSG00000029600
AA Change: A147T

Domain	Start	End	E-Value	Type
low complexity region	235	251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069259

SMART Domains

Protein: ENSMUSP00000069167
Gene: ENSMUSG00000029601

Domain	Start	End	E-Value	Type
coiled coil region	97	137	N/A	INTRINSIC
coiled coil region	209	257	N/A	INTRINSIC
coiled coil region	298	348	N/A	INTRINSIC
IQ	363	385	5.53e-4	SMART
low complexity region	387	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094391

SMART Domains

Protein: ENSMUSP00000091955
Gene: ENSMUSG00000029601

Domain	Start	End	E-Value	Type
coiled coil region	97	137	N/A	INTRINSIC
coiled coil region	209	257	N/A	INTRINSIC
coiled coil region	331	381	N/A	INTRINSIC
IQ	396	418	5.53e-4	SMART
low complexity region	420	458	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136070

Predicted Effect

probably benign
Transcript: ENSMUST00000140554

Predicted Effect

probably damaging
Transcript: ENSMUST00000177800
AA Change: A147T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136946
Gene: ENSMUSG00000029600
AA Change: A147T

Domain	Start	End	E-Value	Type
Pfam:RITA	1	253	2.5e-105	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147596

Predicted Effect

probably benign
Transcript: ENSMUST00000156356

SMART Domains

Protein: ENSMUSP00000122910
Gene: ENSMUSG00000029600

Domain	Start	End	E-Value	Type
low complexity region	81	91	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,465,051 (GRCm39)	V29A	unknown	Het
Abcc8	C	A	7: 45,772,281 (GRCm39)		probably null	Het
Ankar	A	T	1: 72,705,514 (GRCm39)	I614N	probably damaging	Het
Ash1l	G	A	3: 88,873,364 (GRCm39)	R49H	probably benign	Het
Atp8b1	T	C	18: 64,671,654 (GRCm39)	H1123R	probably damaging	Het
Casp12	T	C	9: 5,358,317 (GRCm39)	Y375H	possibly damaging	Het
Cbl	A	G	9: 44,062,770 (GRCm39)	I861T	possibly damaging	Het
Cdh20	T	C	1: 104,902,764 (GRCm39)	L485P	probably damaging	Het
Cobl	A	T	11: 12,336,712 (GRCm39)	N25K	possibly damaging	Het
Col14a1	T	C	15: 55,282,193 (GRCm39)	V818A	unknown	Het
Csmd3	G	A	15: 47,619,359 (GRCm39)		probably benign	Het
Dpp6	A	G	5: 27,869,755 (GRCm39)	Y509C	probably damaging	Het
Fabp2	C	T	3: 122,692,395 (GRCm39)	R96C	probably damaging	Het
Fam53a	T	C	5: 33,757,938 (GRCm39)	D395G	probably damaging	Het
Gabrb1	T	A	5: 71,858,190 (GRCm39)	I72K	probably damaging	Het
Hmcn2	G	A	2: 31,340,964 (GRCm39)	S4479N	probably damaging	Het
Hrnr	C	T	3: 93,231,052 (GRCm39)	T430I	unknown	Het
Ighv1-53	T	A	12: 115,122,235 (GRCm39)	T47S	probably benign	Het
Ilk	C	A	7: 105,390,840 (GRCm39)	P261Q	probably damaging	Het
Ints10	T	G	8: 69,257,485 (GRCm39)	D228E	probably damaging	Het
Kcnq5	A	T	1: 21,472,816 (GRCm39)	S782R	probably benign	Het
Map3k4	A	G	17: 12,467,897 (GRCm39)	S1046P	probably damaging	Het
Musk	C	T	4: 58,354,113 (GRCm39)	P374S	probably benign	Het
Or52e18	T	A	7: 104,609,853 (GRCm39)	I29F	probably benign	Het
Or5b108	C	A	19: 13,168,779 (GRCm39)	Y249*	probably null	Het
Or5j1	G	A	2: 86,879,355 (GRCm39)	S75L	possibly damaging	Het
Or5w19	T	A	2: 87,699,019 (GRCm39)	I228N	probably damaging	Het
Pkd2	T	C	5: 104,624,941 (GRCm39)	Y246H	probably benign	Het
Plekha5	G	T	6: 140,529,576 (GRCm39)	G340*	probably null	Het
Plxna4	T	A	6: 32,129,840 (GRCm39)	M1828L	probably damaging	Het
Prex1	A	G	2: 166,463,105 (GRCm39)	I252T	probably benign	Het
Pura	A	G	18: 36,420,831 (GRCm39)	D206G	probably damaging	Het
Rad54b	T	A	4: 11,612,713 (GRCm39)	F782I	probably damaging	Het
Rbp4	T	C	19: 38,112,563 (GRCm39)	D90G	probably damaging	Het
Scn7a	C	A	2: 66,530,392 (GRCm39)	R651L	probably benign	Het
Sh2d3c	A	T	2: 32,639,163 (GRCm39)		probably null	Het
Slc43a1	T	G	2: 84,680,115 (GRCm39)	L87R	probably damaging	Het
Sppl2c	A	G	11: 104,078,099 (GRCm39)	T300A	probably benign	Het
Srgap2	T	A	1: 131,284,645 (GRCm39)		probably null	Het
Tkt	G	A	14: 30,294,182 (GRCm39)	V531M	probably damaging	Het
Twsg1	T	C	17: 66,233,431 (GRCm39)	D173G	possibly damaging	Het
Ugt2b37	G	T	5: 87,388,861 (GRCm39)	H451N	probably benign	Het
Ugt2b38	C	T	5: 87,571,592 (GRCm39)	D147N	probably damaging	Het
Vmn1r15	T	C	6: 57,235,255 (GRCm39)	I41T	probably benign	Het
Vwa5a	A	T	9: 38,649,252 (GRCm39)	T667S	probably benign	Het
Xrn2	A	G	2: 146,889,633 (GRCm39)	E672G	probably benign	Het
Zfp235	T	A	7: 23,834,727 (GRCm39)	M1K	probably null	Het
Zmym1	T	C	4: 126,941,553 (GRCm39)	E847G	probably damaging	Het

Other mutations in Rita1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02269:Rita1	APN	5	120,747,858 (GRCm39)	missense	probably damaging	0.98
IGL02273:Rita1	APN	5	120,747,858 (GRCm39)	missense	probably damaging	0.98
IGL02274:Rita1	APN	5	120,747,858 (GRCm39)	missense	probably damaging	0.98
IGL02302:Rita1	APN	5	120,747,858 (GRCm39)	missense	probably damaging	0.98
IGL02313:Rita1	APN	5	120,747,858 (GRCm39)	missense	probably damaging	0.98
IGL02315:Rita1	APN	5	120,747,858 (GRCm39)	missense	probably damaging	0.98
IGL02329:Rita1	APN	5	120,747,858 (GRCm39)	missense	probably damaging	0.98
IGL02330:Rita1	APN	5	120,747,858 (GRCm39)	missense	probably damaging	0.98
IGL02331:Rita1	APN	5	120,747,858 (GRCm39)	missense	probably damaging	0.98
IGL02750:Rita1	APN	5	120,747,716 (GRCm39)	missense	possibly damaging	0.58
R0360:Rita1	UTSW	5	120,747,837 (GRCm39)	missense	probably benign	0.02
R0490:Rita1	UTSW	5	120,749,630 (GRCm39)	missense	probably damaging	1.00
R1822:Rita1	UTSW	5	120,747,645 (GRCm39)	missense	possibly damaging	0.50
R2440:Rita1	UTSW	5	120,748,004 (GRCm39)	missense	probably damaging	1.00
R4429:Rita1	UTSW	5	120,747,626 (GRCm39)	missense	probably damaging	0.97
R4870:Rita1	UTSW	5	120,749,448 (GRCm39)	missense	probably damaging	1.00
R5009:Rita1	UTSW	5	120,749,448 (GRCm39)	missense	probably damaging	1.00
R5941:Rita1	UTSW	5	120,747,626 (GRCm39)	missense	probably benign	0.35
R6475:Rita1	UTSW	5	120,749,635 (GRCm39)	missense	probably damaging	1.00
R7749:Rita1	UTSW	5	120,749,506 (GRCm39)	missense	probably benign	0.23
R8313:Rita1	UTSW	5	120,747,716 (GRCm39)	missense	possibly damaging	0.87

Posted On

2015-04-16