Mutagenetix > Incidental Mutation

Incidental Mutation 'R4429:Rita1'

328316

Institutional Source

Beutler Lab

Gene Symbol

Rita1

Ensembl Gene

ENSMUSG00000029600

Gene Name

RBPJ interacting and tubulin associated 1

Synonyms

1110008J03Rik

MMRRC Submission

041699-MU

Accession Numbers

Essential gene?

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

Stock #

R4429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120747123-120750654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120747626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 224 (V224A)

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: V224A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031599
Gene: ENSMUSG00000029600
AA Change: V224A

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: V224A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136946
Gene: ENSMUSG00000029600
AA Change: V224A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202672

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

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Abca5	T	C	11: 110,202,236 (GRCm39)	T390A	probably benign	Het
Ahcyl2	T	G	6: 29,894,874 (GRCm39)	V452G	probably damaging	Het
Ano4	T	A	10: 88,828,804 (GRCm39)	N545I	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Catip	T	A	1: 74,407,891 (GRCm39)		probably benign	Het
Chrna4	A	G	2: 180,670,413 (GRCm39)	S448P	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Cnpy3	T	A	17: 47,058,070 (GRCm39)	Q111L	probably benign	Het
Dnah8	A	G	17: 30,971,120 (GRCm39)	N2725D	probably damaging	Het
Dock8	T	C	19: 25,042,754 (GRCm39)	V112A	probably benign	Het
Ephb3	G	A	16: 21,033,213 (GRCm39)	E66K	probably damaging	Het
Gm6594	T	A	17: 82,846,923 (GRCm39)	D79E	probably benign	Het
Gtf2e2	T	A	8: 34,242,521 (GRCm39)	Y74*	probably null	Het
Hacd4	A	T	4: 88,353,184 (GRCm39)	F103I	possibly damaging	Het
Hap1	T	C	11: 100,245,098 (GRCm39)	T38A	probably benign	Het
Havcr2	T	A	11: 46,347,387 (GRCm39)	D72E	probably damaging	Het
Iqcg	G	A	16: 32,839,860 (GRCm39)	T362I	probably benign	Het
Lect2	C	T	13: 56,693,538 (GRCm39)		probably null	Het
Lemd3	T	C	10: 120,813,893 (GRCm39)	T447A	probably benign	Het
Lrrc72	T	C	12: 36,258,623 (GRCm39)	N78S	probably damaging	Het
Map3k14	A	G	11: 103,118,410 (GRCm39)	L592P	probably damaging	Het
Meioc	T	C	11: 102,566,546 (GRCm39)	Y721H	probably damaging	Het
Mrps10	T	A	17: 47,689,124 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,201,283 (GRCm39)	Y1406C	probably damaging	Het
Myo7a	T	C	7: 97,702,395 (GRCm39)	Y2098C	probably damaging	Het
Nol9	C	T	4: 152,125,631 (GRCm39)	T194I	probably damaging	Het
Nox3	G	A	17: 3,733,233 (GRCm39)	T206I	probably benign	Het
Nsd2	T	G	5: 34,000,546 (GRCm39)	M21R	probably damaging	Het
Pcdh9	T	C	14: 94,124,820 (GRCm39)	N327S	probably damaging	Het
Pclo	T	G	5: 14,728,114 (GRCm39)		probably benign	Het
Pparg	T	A	6: 115,416,984 (GRCm39)	M59K	probably benign	Het
Prag1	A	G	8: 36,613,796 (GRCm39)	K1116R	probably damaging	Het
Rhbdf1	C	T	11: 32,163,369 (GRCm39)	E368K	probably benign	Het
Rsph6a	T	A	7: 18,807,988 (GRCm39)	W384R	probably damaging	Het
Scn1a	A	T	2: 66,181,329 (GRCm39)	Y65N	possibly damaging	Het
Serpina5	C	A	12: 104,069,665 (GRCm39)	F292L	probably benign	Het
Sf3b3	A	C	8: 111,552,750 (GRCm39)	L511V	probably benign	Het
Siglecg	C	T	7: 43,067,350 (GRCm39)	P639L	possibly damaging	Het
Slc12a3	A	T	8: 95,069,713 (GRCm39)	I541F	probably damaging	Het
Slco6d1	T	C	1: 98,424,091 (GRCm39)	V581A	possibly damaging	Het
Sptbn2	T	C	19: 4,788,383 (GRCm39)	Y1121H	probably damaging	Het
Sytl5	A	T	X: 9,826,262 (GRCm39)	N412Y	probably damaging	Het
Timm29	G	C	9: 21,504,775 (GRCm39)	A148P	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem67	T	A	4: 12,051,473 (GRCm39)	N785I	possibly damaging	Het
Trhde	A	T	10: 114,339,028 (GRCm39)	L594Q	probably damaging	Het
Uba6	C	T	5: 86,268,406 (GRCm39)	V941I	probably damaging	Het
Vmn1r174	T	C	7: 23,453,565 (GRCm39)	V77A	probably benign	Het
Zfp661	A	G	2: 127,420,628 (GRCm39)	V57A	probably damaging	Het
Zfp867	C	T	11: 59,355,863 (GRCm39)	D64N	possibly damaging	Het
Zp3r	T	C	1: 130,519,128 (GRCm39)	T294A	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
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
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'- AATATGGCCCATCCTCACCG -3'
(R):5'- AAAGCTCCGGACCCTTTTCTG -3'

Sequencing Primer
(F):5'- AGGCGTTTCCAGCATCTG -3'
(R):5'- TGCAGGCTCCCAGATGTCATC -3'

Posted On

2015-07-07