Mutagenetix > Incidental Mutation

Incidental Mutation 'R0490:Rita1'

43435

Institutional Source

Beutler Lab

Gene Symbol

Rita1

Ensembl Gene

ENSMUSG00000029600

Gene Name

RBPJ interacting and tubulin associated 1

Synonyms

1110008J03Rik

MMRRC Submission

038688-MU

Accession Numbers

Essential gene?

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

Stock #

R0490 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120747123-120750654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120749630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 28 (F28I)

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: F28I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031599
Gene: ENSMUSG00000029600
AA Change: F28I

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

possibly damaging
Transcript: ENSMUST00000111884
AA Change: F28I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136070

Predicted Effect

probably damaging
Transcript: ENSMUST00000140554
AA Change: F28I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000177800
AA Change: F28I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136946
Gene: ENSMUSG00000029600
AA Change: F28I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156356
AA Change: F25I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122910
Gene: ENSMUSG00000029600
AA Change: F25I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202672

Meta Mutation Damage Score

0.1968

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,103,338 (GRCm39)	Y640N	probably damaging	Het
Adamts9	T	A	6: 92,849,847 (GRCm39)	Q402L	probably benign	Het
Als2cl	A	G	9: 110,724,414 (GRCm39)	T750A	probably benign	Het
Ank1	C	A	8: 23,597,890 (GRCm39)		probably benign	Het
Ap4e1	T	A	2: 126,888,106 (GRCm39)	N404K	probably damaging	Het
Atf7ip	G	T	6: 136,586,190 (GRCm39)		probably benign	Het
Bean1	A	T	8: 104,941,660 (GRCm39)	T169S	possibly damaging	Het
Bod1l	G	T	5: 41,979,235 (GRCm39)	T693N	probably damaging	Het
Ccdc81	A	T	7: 89,536,970 (GRCm39)	V226D	probably benign	Het
Cd48	A	G	1: 171,532,445 (GRCm39)	*241W	probably null	Het
Cdon	C	A	9: 35,363,978 (GRCm39)	S32Y	probably damaging	Het
Cers3	A	G	7: 66,423,438 (GRCm39)	S128G	possibly damaging	Het
Cntn6	T	C	6: 104,810,879 (GRCm39)	V641A	possibly damaging	Het
Col6a4	G	A	9: 105,890,969 (GRCm39)	T1775I	probably damaging	Het
Dnah8	T	C	17: 30,919,393 (GRCm39)	V1122A	probably benign	Het
Dst	G	T	1: 34,346,449 (GRCm39)	G5102*	probably null	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Epha5	G	T	5: 84,255,833 (GRCm39)		probably benign	Het
Fscb	G	A	12: 64,519,661 (GRCm39)	P602S	unknown	Het
Fxn	A	G	19: 24,254,543 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,808,291 (GRCm39)	L254P	possibly damaging	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Gng8	A	G	7: 16,628,908 (GRCm39)	T14A	probably benign	Het
Gsdmc3	C	T	15: 63,732,099 (GRCm39)	G309D	possibly damaging	Het
Gsr	T	A	8: 34,161,540 (GRCm39)		probably benign	Het
Gtdc1	A	T	2: 44,525,052 (GRCm39)	D152E	probably benign	Het
Herc1	A	G	9: 66,392,281 (GRCm39)	D4063G	probably damaging	Het
Hsdl2	C	T	4: 59,612,814 (GRCm39)		probably benign	Het
Iqgap3	T	C	3: 88,021,363 (GRCm39)		probably benign	Het
Kcnj10	A	G	1: 172,197,019 (GRCm39)	T178A	probably damaging	Het
Lama5	T	A	2: 179,821,962 (GRCm39)	I2958F	possibly damaging	Het
Lnx1	T	A	5: 74,781,008 (GRCm39)		probably null	Het
Lpl	A	G	8: 69,349,343 (GRCm39)	R290G	probably damaging	Het
Mamdc4	C	T	2: 25,453,593 (GRCm39)	R1196K	probably benign	Het
Mogat2	T	C	7: 98,872,351 (GRCm39)	S167G	probably benign	Het
Nek8	T	A	11: 78,058,555 (GRCm39)	I582F	probably benign	Het
Notch4	T	A	17: 34,801,864 (GRCm39)	D1237E	probably damaging	Het
Or2y8	A	G	11: 52,035,493 (GRCm39)	I288T	probably damaging	Het
Or5b104	A	G	19: 13,072,176 (GRCm39)	Y279H	probably damaging	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Or9i14	A	G	19: 13,792,219 (GRCm39)	L245P	probably damaging	Het
Pcdhb8	T	C	18: 37,489,833 (GRCm39)	S504P	probably damaging	Het
Pigs	T	C	11: 78,226,451 (GRCm39)	S223P	probably damaging	Het
Prkch	A	G	12: 73,806,450 (GRCm39)	I566V	probably damaging	Het
Ptpn22	T	C	3: 103,793,495 (GRCm39)	S549P	probably damaging	Het
Rpgrip1l	A	T	8: 92,026,473 (GRCm39)		probably benign	Het
Slc1a1	A	G	19: 28,874,931 (GRCm39)	K170E	probably benign	Het
Spag17	C	T	3: 99,889,727 (GRCm39)	R199W	probably damaging	Het
Tas2r116	T	C	6: 132,832,984 (GRCm39)	V195A	probably benign	Het
Trav7d-3	C	A	14: 52,982,007 (GRCm39)		probably benign	Het
Trim15	T	C	17: 37,177,247 (GRCm39)	K138E	probably benign	Het
Ttn	T	A	2: 76,539,174 (GRCm39)	H34604L	probably benign	Het
Ttn	C	T	2: 76,577,876 (GRCm39)	R16012K	probably damaging	Het
Zfp948	T	C	17: 21,808,296 (GRCm39)	V496A	probably benign	Het
Zfy2	A	T	Y: 2,106,620 (GRCm39)	S671R	possibly damaging	Het
Zswim1	T	A	2: 164,667,203 (GRCm39)	Y152N	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCATACCTACGATAGACCTTCCC -3'
(R):5'- AGCTGATTGCTCATTCCGACCC -3'

Sequencing Primer
(F):5'- accaaccatctccacccc -3'
(R):5'- TCCGACCCCTATTACAGGGAG -3'

Posted On

2013-05-23