Mutagenetix > Incidental Mutation

Incidental Mutation 'R0100:Garre1'

64126

Institutional Source

Beutler Lab

Gene Symbol

Garre1

Ensembl Gene

ENSMUSG00000066571

Gene Name

granule associated Rac and RHOG effector 1

Synonyms

4931406P16Rik

MMRRC Submission

038386-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0100 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

33936132-34012976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33953436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 442 (I442T)

Ref Sequence

ENSEMBL: ENSMUSP00000103709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085592] [ENSMUST00000105172] [ENSMUST00000108074] [ENSMUST00000206399]

AlphaFold

Q8C5X1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085592
AA Change: I442T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: I442T

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Pfam:DUF4745	59	187	1.3e-57	PFAM
low complexity region	319	332	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC
low complexity region	677	696	N/A	INTRINSIC
low complexity region	699	729	N/A	INTRINSIC
low complexity region	771	786	N/A	INTRINSIC
low complexity region	856	868	N/A	INTRINSIC
low complexity region	890	913	N/A	INTRINSIC
low complexity region	940	951	N/A	INTRINSIC
low complexity region	1026	1049	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105172

SMART Domains

Protein: ENSMUSP00000100805
Gene: ENSMUSG00000078380

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L23eN	13	62	1.1e-20	PFAM
Pfam:Ribosomal_L23	70	142	6.2e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108074
AA Change: I442T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: I442T

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
low complexity region	319	332	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC
low complexity region	677	696	N/A	INTRINSIC
low complexity region	699	729	N/A	INTRINSIC
low complexity region	771	786	N/A	INTRINSIC
low complexity region	856	868	N/A	INTRINSIC
low complexity region	890	913	N/A	INTRINSIC
low complexity region	940	951	N/A	INTRINSIC
low complexity region	1026	1049	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205581

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206399
AA Change: I230T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207005

Meta Mutation Damage Score

0.5205

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,259,415 (GRCm39)	C814R	probably damaging	Het
Bbof1	T	A	12: 84,457,829 (GRCm39)	D31E	probably benign	Het
Ccdc51	C	T	9: 108,921,066 (GRCm39)	Q318*	probably null	Het
Cpxm2	T	A	7: 131,656,600 (GRCm39)	H554L	possibly damaging	Het
Dbr1	T	A	9: 99,465,722 (GRCm39)	D433E	probably benign	Het
Ddx55	C	T	5: 124,694,845 (GRCm39)	T91I	probably damaging	Het
Dhx57	T	C	17: 80,582,585 (GRCm39)	D340G	possibly damaging	Het
Dnah1	C	T	14: 30,984,109 (GRCm39)		probably null	Het
Dpp9	C	T	17: 56,512,854 (GRCm39)	G118D	possibly damaging	Het
Fam81a	C	T	9: 70,010,091 (GRCm39)		probably benign	Het
Fat4	A	C	3: 39,034,397 (GRCm39)	N2683T	probably damaging	Het
Fbxo47	C	T	11: 97,759,432 (GRCm39)	G165S	probably damaging	Het
Gpatch2	C	A	1: 186,958,014 (GRCm39)	A123E	probably damaging	Het
Greb1	T	A	12: 16,730,225 (GRCm39)	Q1734L	probably benign	Het
Gtf2ird2	T	C	5: 134,245,857 (GRCm39)	L705P	probably damaging	Het
H13	T	A	2: 152,531,783 (GRCm39)		probably null	Het
Hip1	T	C	5: 135,465,307 (GRCm39)	D367G	probably benign	Het
Ift140	C	T	17: 25,309,928 (GRCm39)	Q1112*	probably null	Het
Il17b	A	G	18: 61,823,342 (GRCm39)	M59V	probably benign	Het
Lpin3	T	C	2: 160,747,260 (GRCm39)	Y829H	probably damaging	Het
Mocs3	C	T	2: 168,073,110 (GRCm39)	R186C	probably damaging	Het
Or10al5	T	C	17: 38,063,594 (GRCm39)	F283S	probably benign	Het
Or2bd2	C	T	7: 6,443,399 (GRCm39)	R167C	probably damaging	Het
Or4c120	T	A	2: 89,001,431 (GRCm39)	I42F	probably benign	Het
Or5be3	T	C	2: 86,863,939 (GRCm39)	T209A	probably benign	Het
Osgepl1	A	G	1: 53,362,372 (GRCm39)	I405V	probably damaging	Het
Pdcd11	T	C	19: 47,091,105 (GRCm39)	S360P	probably benign	Het
Plekhs1	A	G	19: 56,466,934 (GRCm39)	E255G	probably damaging	Het
Tex22	T	A	12: 113,052,392 (GRCm39)	I150N	probably benign	Het
Tmem106a	T	C	11: 101,477,084 (GRCm39)	S98P	probably benign	Het
Tnfrsf18	A	G	4: 156,112,823 (GRCm39)	T170A	probably benign	Het
Trpc6	C	T	9: 8,653,035 (GRCm39)	P614S	probably damaging	Het
Usp28	C	A	9: 48,947,232 (GRCm39)	P566Q	probably damaging	Het
Washc5	A	G	15: 59,215,947 (GRCm39)	F811L	possibly damaging	Het

Other mutations in Garre1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Garre1	APN	7	33,945,412 (GRCm39)	splice site	probably benign
IGL00160:Garre1	APN	7	33,938,431 (GRCm39)	missense	possibly damaging	0.88
IGL00691:Garre1	APN	7	33,944,910 (GRCm39)	missense	probably damaging	1.00
IGL01312:Garre1	APN	7	33,955,933 (GRCm39)	missense	probably benign	0.19
IGL01954:Garre1	APN	7	33,944,460 (GRCm39)	missense	probably damaging	1.00
IGL02016:Garre1	APN	7	33,938,526 (GRCm39)	missense	possibly damaging	0.74
IGL02390:Garre1	APN	7	33,947,643 (GRCm39)	missense	probably damaging	1.00
IGL02407:Garre1	APN	7	33,955,909 (GRCm39)	missense	probably damaging	0.99
IGL02677:Garre1	APN	7	33,941,834 (GRCm39)	splice site	probably benign
IGL02929:Garre1	APN	7	33,944,507 (GRCm39)	missense	possibly damaging	0.46
IGL03285:Garre1	APN	7	33,984,416 (GRCm39)	missense	possibly damaging	0.81
I1329:Garre1	UTSW	7	33,944,619 (GRCm39)	missense	probably benign	0.00
R0004:Garre1	UTSW	7	33,955,853 (GRCm39)	missense	probably damaging	0.99
R0100:Garre1	UTSW	7	33,953,436 (GRCm39)	missense	possibly damaging	0.95
R0135:Garre1	UTSW	7	33,945,382 (GRCm39)	missense	probably damaging	1.00
R0137:Garre1	UTSW	7	33,938,644 (GRCm39)	missense	probably damaging	1.00
R0556:Garre1	UTSW	7	33,939,222 (GRCm39)	missense	probably damaging	0.99
R0687:Garre1	UTSW	7	33,944,843 (GRCm39)	missense	possibly damaging	0.95
R0928:Garre1	UTSW	7	33,947,671 (GRCm39)	splice site	probably null
R1719:Garre1	UTSW	7	33,947,631 (GRCm39)	missense	probably damaging	0.98
R1908:Garre1	UTSW	7	33,957,461 (GRCm39)	missense	probably benign	0.14
R1909:Garre1	UTSW	7	33,957,461 (GRCm39)	missense	probably benign	0.14
R1976:Garre1	UTSW	7	33,956,805 (GRCm39)	missense	probably damaging	0.99
R2496:Garre1	UTSW	7	33,955,916 (GRCm39)	missense	possibly damaging	0.93
R3005:Garre1	UTSW	7	33,984,209 (GRCm39)	missense	probably damaging	1.00
R4666:Garre1	UTSW	7	33,984,198 (GRCm39)	missense	probably damaging	0.98
R4832:Garre1	UTSW	7	33,938,333 (GRCm39)	utr 3 prime	probably benign
R4870:Garre1	UTSW	7	33,984,312 (GRCm39)	missense	possibly damaging	0.83
R4989:Garre1	UTSW	7	33,945,225 (GRCm39)	missense	probably damaging	1.00
R5033:Garre1	UTSW	7	33,945,237 (GRCm39)	missense	probably benign
R5308:Garre1	UTSW	7	33,945,180 (GRCm39)	nonsense	probably null
R5366:Garre1	UTSW	7	33,941,713 (GRCm39)	missense	possibly damaging	0.74
R5386:Garre1	UTSW	7	33,941,813 (GRCm39)	missense	probably damaging	0.99
R5688:Garre1	UTSW	7	33,953,416 (GRCm39)	missense	possibly damaging	0.74
R5688:Garre1	UTSW	7	33,984,134 (GRCm39)	missense	probably damaging	0.99
R5714:Garre1	UTSW	7	33,939,941 (GRCm39)	nonsense	probably null
R5733:Garre1	UTSW	7	33,944,505 (GRCm39)	missense	probably damaging	0.99
R5772:Garre1	UTSW	7	33,953,413 (GRCm39)	missense	probably damaging	0.97
R6059:Garre1	UTSW	7	33,944,888 (GRCm39)	missense	possibly damaging	0.90
R6211:Garre1	UTSW	7	33,938,429 (GRCm39)	missense	possibly damaging	0.95
R6276:Garre1	UTSW	7	33,941,802 (GRCm39)	nonsense	probably null
R6477:Garre1	UTSW	7	33,957,055 (GRCm39)	critical splice donor site	probably null
R6757:Garre1	UTSW	7	33,938,502 (GRCm39)	missense	possibly damaging	0.89
R6912:Garre1	UTSW	7	33,945,093 (GRCm39)	missense	probably benign
R7156:Garre1	UTSW	7	33,945,133 (GRCm39)	missense	possibly damaging	0.80
R7317:Garre1	UTSW	7	33,963,072 (GRCm39)	missense	probably benign
R7431:Garre1	UTSW	7	33,984,219 (GRCm39)	missense	possibly damaging	0.73
R7452:Garre1	UTSW	7	33,945,096 (GRCm39)	missense	probably benign
R7996:Garre1	UTSW	7	33,963,024 (GRCm39)	missense	possibly damaging	0.77
R8348:Garre1	UTSW	7	33,984,569 (GRCm39)	missense	probably damaging	1.00
R8448:Garre1	UTSW	7	33,984,569 (GRCm39)	missense	probably damaging	1.00
R8989:Garre1	UTSW	7	33,956,869 (GRCm39)	missense	probably damaging	0.99
R9010:Garre1	UTSW	7	33,938,491 (GRCm39)	missense	probably benign	0.01
R9095:Garre1	UTSW	7	33,956,770 (GRCm39)	critical splice donor site	probably null
R9505:Garre1	UTSW	7	33,984,371 (GRCm39)	missense	probably damaging	1.00
R9530:Garre1	UTSW	7	33,963,069 (GRCm39)	missense	probably benign	0.01
R9612:Garre1	UTSW	7	33,947,656 (GRCm39)	missense	probably damaging	1.00
RF019:Garre1	UTSW	7	33,939,974 (GRCm39)	missense	probably damaging	0.98
X0021:Garre1	UTSW	7	33,944,788 (GRCm39)	missense	possibly damaging	0.94
Z1177:Garre1	UTSW	7	33,984,180 (GRCm39)	missense	probably damaging	0.96
Z1186:Garre1	UTSW	7	33,945,185 (GRCm39)	missense	probably benign
Z1186:Garre1	UTSW	7	33,938,583 (GRCm39)	missense	probably benign	0.03
Z1186:Garre1	UTSW	7	33,938,533 (GRCm39)	missense	probably benign
Z1191:Garre1	UTSW	7	33,945,185 (GRCm39)	missense	probably benign
Z1191:Garre1	UTSW	7	33,938,583 (GRCm39)	missense	probably benign	0.03
Z1191:Garre1	UTSW	7	33,938,533 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTATGAGGTCATATCCCTGGCCTG -3'
(R):5'- GCCGGTTACTGAGTGACTAATACGC -3'

Sequencing Primer
(F):5'- AACCCTGTGGCTTCAGTAAG -3'
(R):5'- GTTACTGAGTGACTAATACGCTTATG -3'

Posted On

2013-08-06