Mutagenetix > Incidental Mutation

Incidental Mutation 'R7749:Rita1'

597088

Institutional Source

Beutler Lab

Gene Symbol

Rita1

Ensembl Gene

ENSMUSG00000029600

Gene Name

RBPJ interacting and tubulin associated 1

Synonyms

1110008J03Rik

MMRRC Submission

045805-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R7749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120747123-120750654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120749506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 69 (C69Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031599 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000031599
AA Change: C69Y

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031599
Gene: ENSMUSG00000029600
AA Change: C69Y

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: C69Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000140554
AA Change: C69Y

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156356
AA Change: C66Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122910
Gene: ENSMUSG00000029600
AA Change: C66Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177800
AA Change: C69Y

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136946
Gene: ENSMUSG00000029600
AA Change: C69Y

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1a	A	T	19: 46,368,186 (GRCm39)	S254T	probably benign	Het
Adam12	G	A	7: 133,826,542 (GRCm39)	A22V	unknown	Het
Adarb2	A	G	13: 8,619,775 (GRCm39)	D87G	possibly damaging	Het
Aldh6a1	A	T	12: 84,488,855 (GRCm39)	I59N	probably benign	Het
Ankrd50	C	T	3: 38,536,870 (GRCm39)	C161Y	probably damaging	Het
Ankrd7	A	G	6: 18,879,515 (GRCm39)		probably null	Het
Anks1	T	A	17: 28,257,115 (GRCm39)	I707N	probably damaging	Het
Atoh1	A	T	6: 64,706,904 (GRCm39)	M200L	possibly damaging	Het
Bmp1	C	T	14: 70,730,284 (GRCm39)	R416H	probably damaging	Het
Caprin1	A	G	2: 103,602,099 (GRCm39)	S548P	probably benign	Het
Ccdc167	T	A	17: 29,924,247 (GRCm39)	Y63F	possibly damaging	Het
Cfap99	T	A	5: 34,465,284 (GRCm39)	D174E	probably benign	Het
Chil3	T	G	3: 106,056,161 (GRCm39)	N331T	probably benign	Het
Chmp5	T	A	4: 40,949,488 (GRCm39)	I35N	probably damaging	Het
Cpt1c	A	T	7: 44,611,689 (GRCm39)	S537T	probably benign	Het
Dctn1	A	T	6: 83,163,123 (GRCm39)		probably benign	Het
Dhx57	T	A	17: 80,546,287 (GRCm39)	M1366L	probably benign	Het
Dnah9	T	A	11: 65,802,656 (GRCm39)	Y3478F	probably damaging	Het
Efna3	A	G	3: 89,223,947 (GRCm39)	Y81H	probably damaging	Het
Eif4enif1	T	C	11: 3,192,608 (GRCm39)	V812A	probably damaging	Het
Erg	A	T	16: 95,178,216 (GRCm39)	I237N	probably benign	Het
Fem1c	G	T	18: 46,657,185 (GRCm39)	N176K	probably damaging	Het
Fgd4	T	C	16: 16,293,018 (GRCm39)	Y233C	probably benign	Het
Foxd2	G	A	4: 114,765,009 (GRCm39)	A337V	unknown	Het
Gsdma2	T	C	11: 98,548,547 (GRCm39)	L433P	unknown	Het
Hmcn2	C	A	2: 31,343,045 (GRCm39)		probably null	Het
Hnrnpul2	T	C	19: 8,797,788 (GRCm39)	V48A	probably benign	Het
Hsf1	T	A	15: 76,383,387 (GRCm39)	S396T	probably benign	Het
Htr5b	G	T	1: 121,455,487 (GRCm39)	N144K	probably damaging	Het
Igkv9-120	T	C	6: 68,027,172 (GRCm39)	S29P	probably damaging	Het
Igsf10	T	A	3: 59,236,549 (GRCm39)	N1211Y	possibly damaging	Het
Kcnh1	A	C	1: 191,959,447 (GRCm39)	I334L	probably benign	Het
Laptm4b	T	C	15: 34,276,346 (GRCm39)	I158T	probably benign	Het
Mgat4f	A	T	1: 134,318,250 (GRCm39)	M341L	probably benign	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nav3	T	C	10: 109,539,213 (GRCm39)	T2063A	probably damaging	Het
Nceh1	T	A	3: 27,261,531 (GRCm39)	D47E	probably benign	Het
Nckap5	A	G	1: 125,952,383 (GRCm39)	S1390P	probably damaging	Het
Npepps	T	G	11: 97,158,454 (GRCm39)	I104L	probably benign	Het
Numb	A	G	12: 83,848,051 (GRCm39)	S229P	not run	Het
Opn1sw	T	A	6: 29,380,168 (GRCm39)	I83F	probably benign	Het
Or13p4	T	C	4: 118,547,425 (GRCm39)	S75G	probably damaging	Het
Or5b95	A	T	19: 12,657,576 (GRCm39)	I35F	probably benign	Het
Or5l13	G	A	2: 87,779,822 (GRCm39)	H252Y	probably damaging	Het
Pigg	T	G	5: 108,484,162 (GRCm39)	C603G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1l1	C	A	15: 44,391,133 (GRCm39)	H1504N	probably benign	Het
Plcd4	A	G	1: 74,604,292 (GRCm39)	N757D	possibly damaging	Het
Ppia	A	G	11: 6,369,569 (GRCm39)	T152A	probably benign	Het
Psmd8	G	A	7: 28,878,346 (GRCm39)		probably null	Het
Pxn	T	A	5: 115,686,575 (GRCm39)	Y356N	probably benign	Het
Rhoa	G	C	9: 108,213,914 (GRCm39)	C159S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Satb1	A	G	17: 52,074,961 (GRCm39)	S512P	possibly damaging	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Slc22a6	A	G	19: 8,599,260 (GRCm39)	K297R	possibly damaging	Het
Snrnp48	T	C	13: 38,405,263 (GRCm39)	Y287H	probably benign	Het
Sntg2	A	T	12: 30,276,910 (GRCm39)	C381S	probably benign	Het
Syngap1	T	A	17: 27,178,938 (GRCm39)	M649K	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Thap2	T	C	10: 115,212,289 (GRCm39)	I79V	probably damaging	Het
Thap7	T	C	16: 17,346,467 (GRCm39)	N172S	probably benign	Het
Ticrr	A	G	7: 79,328,844 (GRCm39)	Y661C	possibly damaging	Het
Ttn	T	C	2: 76,606,659 (GRCm39)	N18084D	probably damaging	Het
Usp48	A	T	4: 137,377,728 (GRCm39)	K1020M	probably damaging	Het
Vmn2r12	T	C	5: 109,233,920 (GRCm39)	N764S	probably damaging	Het
Vmn2r91	A	G	17: 18,356,540 (GRCm39)	I736V	possibly damaging	Het
Wfdc6b	T	A	2: 164,459,339 (GRCm39)	C134S	probably damaging	Het
Zcchc2	A	T	1: 105,946,003 (GRCm39)	D481V	probably damaging	Het
Zfp949	G	A	9: 88,451,923 (GRCm39)	G498R	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
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
R8313:Rita1	UTSW	5	120,747,716 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GATACCCTGGGACTGAATAAAAGC -3'
(R):5'- GGAATGAAAGCCCTCCACCTTC -3'

Sequencing Primer
(F):5'- TGCTGAGCATGCAATGTGACC -3'
(R):5'- TTCAGCACCGCAGTCCC -3'

Posted On

2019-11-26