Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4498001:Ralyl'

556052

Institutional Source

Beutler Lab

Gene Symbol

Ralyl

Ensembl Gene

ENSMUSG00000039717

Gene Name

RALY RNA binding protein-like

Synonyms

0710005M24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

PIT4498001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13536715-14247347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14172299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 56 (D56V)

Ref Sequence

ENSEMBL: ENSMUSP00000104009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108372] [ENSMUST00000171075] [ENSMUST00000192209] [ENSMUST00000193117] [ENSMUST00000211860]

AlphaFold

Q8BTF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000108372
AA Change: D56V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104009
Gene: ENSMUSG00000039717
AA Change: D56V

Domain	Start	End	E-Value	Type
low complexity region	53	69	N/A	INTRINSIC
coiled coil region	119	182	N/A	INTRINSIC
low complexity region	201	214	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171075

SMART Domains

Protein: ENSMUSP00000125848
Gene: ENSMUSG00000039717

Domain	Start	End	E-Value	Type
low complexity region	53	69	N/A	INTRINSIC
coiled coil region	119	156	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000192209
AA Change: D56V

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

SMART Domains

Protein: ENSMUSP00000142094
Gene: ENSMUSG00000039717
AA Change: D56V

Domain	Start	End	E-Value	Type
low complexity region	53	69	N/A	INTRINSIC
coiled coil region	119	156	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000193117
AA Change: D129V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211860
AA Change: D143V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 93.2%
3x: 91.0%
10x: 86.1%
20x: 75.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	T	C	19: 40,562,800 (GRCm39)	N191S	probably benign	Het
Cacnb2	T	A	2: 14,879,630 (GRCm39)	L84*	probably null	Het
Cdhr2	C	T	13: 54,866,052 (GRCm39)	T284M	possibly damaging	Het
Defb45	T	C	2: 152,438,394 (GRCm39)		probably benign	Het
Dkk3	C	T	7: 111,718,679 (GRCm39)	V236M	probably benign	Het
Dscc1	A	T	15: 54,945,711 (GRCm39)	V328D	probably benign	Het
Epha3	T	C	16: 63,372,889 (GRCm39)	Y938C	probably damaging	Het
Erc1	A	T	6: 119,756,452 (GRCm39)	F435I	possibly damaging	Het
Fbxl5	T	C	5: 43,908,323 (GRCm39)	Y626C	possibly damaging	Het
Fmn2	A	G	1: 174,440,170 (GRCm39)	R1196G	probably damaging	Het
Gabrr1	C	T	4: 33,160,225 (GRCm39)	S303F	probably damaging	Het
Ggt1	T	C	10: 75,414,689 (GRCm39)	V169A	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm3182	T	A	14: 4,481,832 (GRCm38)	C9S	probably damaging	Het
Gpr88	A	C	3: 116,046,264 (GRCm39)	S16A	unknown	Het
Kalrn	A	T	16: 33,851,952 (GRCm39)	M2076K	possibly damaging	Het
Katnip	A	G	7: 125,412,768 (GRCm39)	T371A	probably benign	Het
Kcnd3	T	C	3: 105,566,025 (GRCm39)	I402T	probably damaging	Het
Mink1	A	G	11: 70,489,714 (GRCm39)	D57G	probably benign	Het
Ncl	T	C	1: 86,279,162 (GRCm39)	T584A	possibly damaging	Het
Nfx1	A	T	4: 40,977,244 (GRCm39)	Q306L	probably benign	Het
Ogdh	A	T	11: 6,290,504 (GRCm39)	D374V	probably benign	Het
Or5d39	T	A	2: 87,980,259 (GRCm39)	T35S	probably benign	Het
Pak5	T	A	2: 135,925,211 (GRCm39)	H697L	probably damaging	Het
Pappa	T	C	4: 65,234,469 (GRCm39)	C1425R	probably damaging	Het
Pramel26	T	C	4: 143,539,406 (GRCm39)	E29G	possibly damaging	Het
Rab3gap2	T	A	1: 185,013,882 (GRCm39)	I1196N	probably damaging	Het
Scin	C	T	12: 40,119,446 (GRCm39)		probably null	Het
Slc25a19	T	C	11: 115,514,781 (GRCm39)	I69V	possibly damaging	Het
Slc8a1	G	T	17: 81,956,269 (GRCm39)	Y256*	probably null	Het
Smyd1	T	C	6: 71,196,272 (GRCm39)	H372R	probably benign	Het
St8sia1	T	C	6: 142,859,848 (GRCm39)	T94A	probably damaging	Het
Stard9	T	A	2: 120,527,916 (GRCm39)	M1391K	possibly damaging	Het
Tlr9	G	A	9: 106,100,721 (GRCm39)	R4H	probably benign	Het
Trim50	A	G	5: 135,382,331 (GRCm39)	D61G	probably damaging	Het
Ttn	G	A	2: 76,597,295 (GRCm39)	P19873S	probably damaging	Het
Vmn1r228	G	T	17: 20,996,772 (GRCm39)	H249N	probably benign	Het
Vmn2r108	C	T	17: 20,683,279 (GRCm39)	G642S	probably damaging	Het
Wdr27	A	G	17: 15,154,831 (GRCm39)	S29P	probably benign	Het
Zan	A	G	5: 137,415,298 (GRCm39)		probably null	Het

Other mutations in Ralyl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02508:Ralyl	APN	3	14,172,332 (GRCm39)	splice site	probably benign
IGL02626:Ralyl	APN	3	13,842,094 (GRCm39)	missense	probably benign	0.00
IGL02950:Ralyl	APN	3	14,104,781 (GRCm39)	missense	probably damaging	1.00
R0853:Ralyl	UTSW	3	14,011,566 (GRCm39)	missense	probably damaging	1.00
R1061:Ralyl	UTSW	3	14,180,761 (GRCm39)	missense	probably damaging	1.00
R1068:Ralyl	UTSW	3	13,841,949 (GRCm39)	missense	probably damaging	1.00
R1655:Ralyl	UTSW	3	14,172,296 (GRCm39)	missense	probably damaging	1.00
R1796:Ralyl	UTSW	3	14,208,493 (GRCm39)	missense	possibly damaging	0.77
R1838:Ralyl	UTSW	3	14,208,472 (GRCm39)	missense	probably damaging	1.00
R4706:Ralyl	UTSW	3	14,104,850 (GRCm39)	critical splice donor site	probably null
R5505:Ralyl	UTSW	3	13,841,980 (GRCm39)	missense	probably damaging	1.00
R5510:Ralyl	UTSW	3	13,842,005 (GRCm39)	missense	probably damaging	1.00
R6844:Ralyl	UTSW	3	13,841,938 (GRCm39)	missense	probably damaging	1.00
R6919:Ralyl	UTSW	3	13,842,091 (GRCm39)	missense	probably damaging	1.00
R7876:Ralyl	UTSW	3	14,104,850 (GRCm39)	critical splice donor site	probably null
R8297:Ralyl	UTSW	3	14,104,836 (GRCm39)	missense	probably benign	0.33
R9292:Ralyl	UTSW	3	14,172,312 (GRCm39)	missense	probably benign	0.06
R9686:Ralyl	UTSW	3	13,841,887 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACAATTTTCATGATCTGTGTACTT -3'
(R):5'- ATCTATGTGACAACTGTAGAAACTTC -3'

Sequencing Primer
(F):5'- aaCACAATAAACTACAGCATTA -3'
(R):5'- CAAGAGAACATAATACAGAGTCC -3'

Posted On

2019-06-07