Mutagenetix > Incidental Mutation

Incidental Mutation 'R9407:Gar1'

711579

Institutional Source

Beutler Lab

Gene Symbol

Gar1

Ensembl Gene

ENSMUSG00000028010

Gene Name

GAR1 ribonucleoprotein

Synonyms

GAR1, Nola1, C430047J18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R9407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129618561-129625045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129620608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 160 (Y160H)

Ref Sequence

ENSEMBL: ENSMUSP00000029643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029643] [ENSMUST00000029648] [ENSMUST00000134174] [ENSMUST00000149071] [ENSMUST00000171313] [ENSMUST00000196902] [ENSMUST00000200079]

AlphaFold

Q9CY66

Predicted Effect

probably damaging
Transcript: ENSMUST00000029643
AA Change: Y160H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029643
Gene: ENSMUSG00000028010
AA Change: Y160H

Domain	Start	End	E-Value	Type
Pfam:Gar1	63	180	2.6e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029648

SMART Domains

Protein: ENSMUSP00000029648
Gene: ENSMUSG00000028012

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	36	309	3.5e-11	PFAM
Pfam:7tm_1	42	294	1.5e-48	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000134174
AA Change: Y36H

SMART Domains

Protein: ENSMUSP00000115191
Gene: ENSMUSG00000028010
AA Change: Y36H

Domain	Start	End	E-Value	Type
Pfam:Gar1	1	79	2.6e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000149071
AA Change: Y160H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118752
Gene: ENSMUSG00000028010
AA Change: Y160H

Domain	Start	End	E-Value	Type
Pfam:Gar1	57	198	1.6e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171313

SMART Domains

Protein: ENSMUSP00000132360
Gene: ENSMUSG00000028012

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	36	309	3.5e-11	PFAM
Pfam:7tm_1	42	294	4.6e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196902

SMART Domains

Protein: ENSMUSP00000143093
Gene: ENSMUSG00000028012

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	36	309	3.5e-11	PFAM
Pfam:7tm_1	42	294	1.5e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197535

Predicted Effect

probably benign
Transcript: ENSMUST00000200079

SMART Domains

Protein: ENSMUSP00000143054
Gene: ENSMUSG00000028012

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Pfam:7tm_1	30	197	3.1e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	C	14: 64,223,629 (GRCm39)	Y49C	probably damaging	Het
Abca6	A	T	11: 110,093,210 (GRCm39)	L1021*	probably null	Het
Abcc9	A	G	6: 142,574,229 (GRCm39)	S1003P	possibly damaging	Het
Aldh4a1	A	G	4: 139,372,345 (GRCm39)	I505V	probably benign	Het
Brwd1	T	C	16: 95,803,693 (GRCm39)	D2159G	possibly damaging	Het
C1s2	T	C	6: 124,602,454 (GRCm39)	I586V	probably benign	Het
Cd300e	C	A	11: 114,946,171 (GRCm39)	D97Y	probably damaging	Het
Celsr3	A	G	9: 108,723,596 (GRCm39)	D2877G	probably damaging	Het
Cep41	T	C	6: 30,655,841 (GRCm39)	N328D	probably benign	Het
Cldn15	G	A	5: 137,003,765 (GRCm39)	V227M	probably damaging	Het
Clec10a	T	G	11: 70,060,155 (GRCm39)	I98S	probably damaging	Het
Cpne4	A	G	9: 104,749,963 (GRCm39)	Q89R	probably damaging	Het
Cryba2	C	A	1: 74,932,037 (GRCm39)	A4S	probably benign	Het
Csmd2	G	A	4: 128,442,613 (GRCm39)	A3222T		Het
Dapk1	C	A	13: 60,898,991 (GRCm39)	Y820*	probably null	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Entrep3	C	A	3: 89,094,645 (GRCm39)	A416D	possibly damaging	Het
Gm21834	T	A	17: 58,048,863 (GRCm39)	I118L	probably benign	Het
Gtf2a1l	G	A	17: 89,001,531 (GRCm39)	G129D	probably damaging	Het
Gzmb	T	A	14: 56,497,712 (GRCm39)	Y176F	probably benign	Het
Helz2	T	G	2: 180,881,975 (GRCm39)	K273Q	probably benign	Het
Ifi207	T	A	1: 173,555,234 (GRCm39)	E816V	probably damaging	Het
Insr	A	C	8: 3,235,106 (GRCm39)	D694E	probably benign	Het
Insyn2b	G	A	11: 34,352,072 (GRCm39)	R38Q	probably damaging	Het
Ipcef1	A	T	10: 6,870,036 (GRCm39)	C172*	probably null	Het
Itgal	T	G	7: 126,921,796 (GRCm39)		probably null	Het
Laptm5	A	T	4: 130,655,990 (GRCm39)	M103L		Het
Lypd4	A	T	7: 24,566,160 (GRCm39)	C55S	probably null	Het
Mccc1	A	C	3: 36,030,865 (GRCm39)	H400Q	possibly damaging	Het
Myl4	C	T	11: 104,474,887 (GRCm39)	R79W	probably damaging	Het
Myo18a	A	G	11: 77,709,596 (GRCm39)	T569A	probably benign	Het
Or14a259	G	C	7: 86,013,194 (GRCm39)	S117*	probably null	Het
Or4c117	T	A	2: 88,955,629 (GRCm39)	T149S	probably benign	Het
Or5ak24	A	G	2: 85,261,060 (GRCm39)	S38P	probably damaging	Het
Otof	T	A	5: 30,538,265 (GRCm39)	D1153V	probably damaging	Het
Pcdha12	A	T	18: 37,153,614 (GRCm39)	D111V	probably damaging	Het
Pomt2	G	T	12: 87,157,146 (GRCm39)	F724L	probably damaging	Het
Ros1	T	A	10: 51,994,491 (GRCm39)	Y1284F	probably damaging	Het
Skint6	T	C	4: 113,034,224 (GRCm39)	K301R	possibly damaging	Het
Slc30a5	T	A	13: 100,951,214 (GRCm39)	R223*	probably null	Het
Slc35a1	A	T	4: 34,675,181 (GRCm39)	V119E	probably damaging	Het
Slc6a11	A	T	6: 114,220,914 (GRCm39)	I482F	probably damaging	Het
Tektl1	T	C	10: 78,583,128 (GRCm39)	T419A	probably damaging	Het
Tgm1	A	T	14: 55,942,991 (GRCm39)	C616*	probably null	Het
Tiam2	T	A	17: 3,553,298 (GRCm39)	I1125N	probably damaging	Het
Tln2	T	C	9: 67,136,732 (GRCm39)	D1251G	probably damaging	Het
Tnfaip2	C	G	12: 111,412,161 (GRCm39)	S187R	probably benign	Het
Ush2a	A	G	1: 188,644,045 (GRCm39)	Y4469C	probably damaging	Het
Vmn1r229	G	C	17: 21,035,259 (GRCm39)	C168S	probably damaging	Het
Vmn2r53	A	G	7: 12,335,124 (GRCm39)	S179P	probably damaging	Het
Zfp474	A	C	18: 52,771,502 (GRCm39)	I52L	probably benign	Het

Other mutations in Gar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4449:Gar1	UTSW	3	129,624,353 (GRCm39)	small deletion	probably benign
R0147:Gar1	UTSW	3	129,623,122 (GRCm39)	missense	probably damaging	1.00
R0148:Gar1	UTSW	3	129,623,122 (GRCm39)	missense	probably damaging	1.00
R1599:Gar1	UTSW	3	129,624,253 (GRCm39)	missense	probably benign	0.17
R4222:Gar1	UTSW	3	129,624,455 (GRCm39)	unclassified	probably benign
R6125:Gar1	UTSW	3	129,624,399 (GRCm39)	unclassified	probably benign
R6849:Gar1	UTSW	3	129,623,038 (GRCm39)	missense	probably damaging	1.00
R6850:Gar1	UTSW	3	129,623,038 (GRCm39)	missense	probably damaging	1.00
R9689:Gar1	UTSW	3	129,624,269 (GRCm39)	missense	probably damaging	0.99
R9720:Gar1	UTSW	3	129,620,497 (GRCm39)	missense	unknown
RF043:Gar1	UTSW	3	129,624,337 (GRCm39)	small deletion	probably benign
RF048:Gar1	UTSW	3	129,624,349 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CGTGCAAAATTAAACTGTGGC -3'
(R):5'- CTTGGCAGCTCTCTTAAGTGAAAATG -3'

Sequencing Primer
(F):5'- GTGGCTACAAAATCTCATTAAAACC -3'
(R):5'- AGTCCACAGCACTGTCTTATGTG -3'

Posted On

2022-05-16