Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02331:Rita1'

288686

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: 0.178) question?

Stock #

IGL02331

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	G	11: 105,862,170 (GRCm39)	F241L	possibly damaging	Het
Alx1	A	G	10: 102,858,160 (GRCm39)	F180L	possibly damaging	Het
Apaf1	T	C	10: 90,895,481 (GRCm39)	D428G	probably damaging	Het
Arap2	G	T	5: 62,807,025 (GRCm39)		probably benign	Het
Arnt2	A	G	7: 83,914,832 (GRCm39)	Y511H	probably damaging	Het
Bmp7	A	T	2: 172,714,724 (GRCm39)	C362S	probably damaging	Het
Bpifb9a	A	G	2: 154,104,307 (GRCm39)	D250G	possibly damaging	Het
Ccnk	T	A	12: 108,155,343 (GRCm39)	L100H	probably damaging	Het
Cdh23	T	C	10: 60,301,322 (GRCm39)	I451V	probably damaging	Het
Cemip	A	G	7: 83,613,192 (GRCm39)		probably null	Het
Cep78	T	A	19: 15,951,779 (GRCm39)	Q342L	probably benign	Het
Clca3b	T	C	3: 144,547,167 (GRCm39)		probably benign	Het
Cpb2	A	G	14: 75,520,844 (GRCm39)	R420G	possibly damaging	Het
Cyp2c50	A	T	19: 40,079,387 (GRCm39)		probably null	Het
Dbnl	T	C	11: 5,749,997 (GRCm39)	*433R	probably null	Het
Elovl5	T	C	9: 77,887,181 (GRCm39)	S191P	possibly damaging	Het
Fbxo42	A	G	4: 140,895,157 (GRCm39)	E40G	probably benign	Het
Fpgt	T	C	3: 154,793,499 (GRCm39)	D176G	possibly damaging	Het
Gm1110	C	A	9: 26,824,583 (GRCm39)		probably null	Het
Grik4	A	T	9: 42,453,284 (GRCm39)	S700R	probably damaging	Het
Herc4	T	C	10: 63,099,939 (GRCm39)	S121P	probably benign	Het
Hps4	T	C	5: 112,517,402 (GRCm39)	V263A	probably benign	Het
Hsd11b1	A	C	1: 192,922,924 (GRCm39)	L81R	probably damaging	Het
Ift122	T	C	6: 115,864,285 (GRCm39)	M310T	probably damaging	Het
Isg20l2	G	T	3: 87,839,394 (GRCm39)	V202L	probably damaging	Het
Klf3	A	G	5: 64,986,415 (GRCm39)	K111E	probably damaging	Het
Kxd1	T	C	8: 70,968,090 (GRCm39)	T128A	probably benign	Het
Lgals7	A	G	7: 28,565,143 (GRCm39)	T94A	probably benign	Het
Lrp5	T	C	19: 3,641,816 (GRCm39)	H1382R	possibly damaging	Het
Muc6	T	C	7: 141,226,726 (GRCm39)	T1434A	possibly damaging	Het
Mybl2	C	T	2: 162,916,605 (GRCm39)	R419W	probably damaging	Het
Myo5b	A	T	18: 74,771,111 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,702,389 (GRCm39)	V2138A	possibly damaging	Het
Naip1	T	A	13: 100,563,304 (GRCm39)	K620N	probably benign	Het
Ntrk2	T	C	13: 58,994,670 (GRCm39)		probably null	Het
Or8g21	A	G	9: 38,906,402 (GRCm39)	S110P	probably damaging	Het
Osbpl5	A	G	7: 143,263,532 (GRCm39)	V105A	probably benign	Het
Pfkp	A	C	13: 6,647,996 (GRCm39)	F527V	probably benign	Het
Pilra	C	A	5: 137,833,917 (GRCm39)	G47*	probably null	Het
Pkdrej	C	A	15: 85,705,528 (GRCm39)	C136F	probably damaging	Het
Ppp1r16a	T	A	15: 76,575,200 (GRCm39)	M36K	probably benign	Het
Rnf40	T	C	7: 127,188,999 (GRCm39)	V124A	probably benign	Het
St7l	A	G	3: 104,833,904 (GRCm39)	T522A	probably damaging	Het
Stox2	G	A	8: 47,644,979 (GRCm39)	P891L	probably damaging	Het
Trbv12-1	T	C	6: 41,090,972 (GRCm39)	S115P	probably damaging	Het
Trpm1	A	G	7: 63,884,800 (GRCm39)	D827G	probably benign	Het
Ttll6	T	A	11: 96,026,573 (GRCm39)	M119K	probably damaging	Het
Ufl1	C	A	4: 25,251,971 (GRCm39)	C568F	probably damaging	Het
Usp29	A	T	7: 6,965,155 (GRCm39)	I333F	probably benign	Het
Vta1	G	A	10: 14,581,138 (GRCm39)	T23M	probably damaging	Het
Zswim8	A	G	14: 20,773,325 (GRCm39)	D1771G	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
IGL02326: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
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