Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02377:Rabggta'

291168

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rabggta

Ensembl Gene

ENSMUSG00000040472

Gene Name

Rab geranylgeranyl transferase, a subunit

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL02377

Quality Score

Status

Chromosome

Chromosomal Location

55953321-55959720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55955952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 165 (V165A)

Ref Sequence

ENSEMBL: ENSMUSP00000061498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062861] [ENSMUST00000163889] [ENSMUST00000169237] [ENSMUST00000227061] [ENSMUST00000227958]

AlphaFold

Q9JHK4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062861
AA Change: V165A

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472
AA Change: V165A

Domain	Start	End	E-Value	Type
Pfam:PPTA	47	77	2.9e-8	PFAM
Pfam:PPTA	91	121	2e-12	PFAM
Pfam:PPTA	127	156	7.6e-11	PFAM
Pfam:PPTA	162	192	3.8e-12	PFAM
Pfam:PPTA	210	240	7.8e-12	PFAM
Pfam:RabGGT_insert	243	346	5.3e-47	PFAM
LRR	462	485	1.62e0	SMART
LRR	507	531	1.03e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163889
AA Change: V435A

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: V435A

Domain	Start	End	E-Value	Type
Pfam:PPTA	47	77	2.9e-8	PFAM
Pfam:PPTA	91	121	2e-12	PFAM
Pfam:PPTA	127	156	7.6e-11	PFAM
Pfam:PPTA	162	192	3.8e-12	PFAM
Pfam:PPTA	210	240	7.8e-12	PFAM
Pfam:RabGGT_insert	243	346	5.3e-47	PFAM
LRR	462	485	1.62e0	SMART
LRR	507	531	1.03e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169237
AA Change: V435A

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: V435A

Domain	Start	End	E-Value	Type
Pfam:PPTA	92	119	3.6e-12	PFAM
Pfam:PPTA	128	154	1.2e-10	PFAM
Pfam:PPTA	163	190	2e-11	PFAM
Pfam:PPTA	211	238	9e-12	PFAM
Pfam:RabGGT_insert	244	346	1.9e-46	PFAM
LRR	462	485	1.62e0	SMART
LRR	507	531	1.03e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226209

Predicted Effect

probably benign
Transcript: ENSMUST00000227061
AA Change: V435A

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228604

Predicted Effect

probably benign
Transcript: ENSMUST00000227958

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,937,689 (GRCm39)		probably benign	Het
Abca15	T	C	7: 119,965,133 (GRCm39)		probably benign	Het
App	T	C	16: 84,879,719 (GRCm39)	Q138R	probably benign	Het
Asah2	T	A	19: 31,986,814 (GRCm39)	I529F	probably benign	Het
Atp8b3	A	G	10: 80,356,128 (GRCm39)	S1195P	probably benign	Het
Brca1	A	G	11: 101,415,149 (GRCm39)	M134T	probably benign	Het
Cacna1s	T	C	1: 135,996,732 (GRCm39)	L111P	probably damaging	Het
Capns2	A	T	8: 93,628,215 (GRCm39)	N35Y	probably benign	Het
Ccne1	A	G	7: 37,798,415 (GRCm39)		probably null	Het
Cfap91	G	T	16: 38,153,181 (GRCm39)		probably benign	Het
Csf1r	G	T	18: 61,257,540 (GRCm39)		probably benign	Het
Dipk2b	T	A	X: 18,313,930 (GRCm39)	I131F	possibly damaging	Het
Dlg3	A	T	X: 99,817,007 (GRCm39)	Y326F	possibly damaging	Het
Dnah8	T	C	17: 31,013,770 (GRCm39)	V3837A	probably damaging	Het
Dock10	A	G	1: 80,562,711 (GRCm39)		probably null	Het
Emg1	A	G	6: 124,681,620 (GRCm39)	V208A	probably benign	Het
Eml6	T	A	11: 29,727,282 (GRCm39)	D1280V	probably damaging	Het
Ep400	T	C	5: 110,868,691 (GRCm39)	D911G	unknown	Het
Fam171a1	T	C	2: 3,224,623 (GRCm39)		probably null	Het
Fcgbp	T	C	7: 27,806,395 (GRCm39)	V2121A	possibly damaging	Het
Fggy	G	A	4: 95,511,714 (GRCm39)		probably benign	Het
Fignl1	G	T	11: 11,752,845 (GRCm39)	T70K	possibly damaging	Het
Fndc3b	T	C	3: 27,674,801 (GRCm39)	E47G	probably damaging	Het
Frmd4a	A	G	2: 4,539,385 (GRCm39)	K189E	possibly damaging	Het
Hpse	T	A	5: 100,839,199 (GRCm39)	Y383F	probably damaging	Het
Ip6k2	T	C	9: 108,681,798 (GRCm39)	L197P	probably damaging	Het
Klf1	A	C	8: 85,631,561 (GRCm39)	H375P	probably damaging	Het
Krtap6-5	T	A	16: 88,844,734 (GRCm39)		probably benign	Het
Lacc1	A	T	14: 77,267,055 (GRCm39)	S403T	probably damaging	Het
Lama3	A	G	18: 12,689,807 (GRCm39)	I2850V	possibly damaging	Het
Lats2	C	T	14: 57,929,052 (GRCm39)	R941Q	probably damaging	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrig3	A	T	10: 125,850,743 (GRCm39)	H1103L	probably benign	Het
Lrrc40	G	A	3: 157,742,365 (GRCm39)	M1I	probably null	Het
Magee2	A	T	X: 103,900,399 (GRCm39)	V84D	possibly damaging	Het
Msantd2	G	A	9: 37,434,602 (GRCm39)	V281I	possibly damaging	Het
Mycbpap	A	G	11: 94,394,076 (GRCm39)	V340A	probably damaging	Het
Myh6	A	T	14: 55,181,775 (GRCm39)	M1842K	probably benign	Het
Mylk4	T	C	13: 32,906,130 (GRCm39)	D145G	possibly damaging	Het
Nfkbid	C	T	7: 30,124,689 (GRCm39)	Q160*	probably null	Het
Or11h6	T	A	14: 50,879,975 (GRCm39)		probably null	Het
Or2y1d	A	T	11: 49,321,859 (GRCm39)	K185N	probably damaging	Het
Or5w1b	T	A	2: 87,475,630 (GRCm39)	Y279F	probably damaging	Het
Or7e168	C	T	9: 19,720,343 (GRCm39)	S243F	probably damaging	Het
Or8c11	A	T	9: 38,289,542 (GRCm39)	T122S	probably damaging	Het
Or9q2	T	G	19: 13,772,693 (GRCm39)	Q94P	possibly damaging	Het
Pdgfrb	A	C	18: 61,213,404 (GRCm39)	Q916P	probably damaging	Het
Pex14	T	C	4: 149,050,743 (GRCm39)	Q174R	probably benign	Het
Pogz	T	C	3: 94,786,321 (GRCm39)	S970P	probably damaging	Het
Potegl	T	C	2: 23,102,667 (GRCm39)		probably benign	Het
Rdh10	G	A	1: 16,176,438 (GRCm39)	W66*	probably null	Het
Ripor2	T	A	13: 24,879,549 (GRCm39)		probably benign	Het
Slc35g1	T	A	19: 38,391,678 (GRCm39)	M320K	possibly damaging	Het
Slc9a7	A	G	X: 20,068,963 (GRCm39)	Y197H	probably damaging	Het
Smn1	T	C	13: 100,272,192 (GRCm39)		probably benign	Het
Spam1	G	A	6: 24,796,696 (GRCm39)	G216S	probably damaging	Het
Spata31	A	T	13: 65,068,194 (GRCm39)	N114I	probably damaging	Het
Sptbn1	A	T	11: 30,069,491 (GRCm39)	V1615D	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Thoc2	T	A	X: 40,914,355 (GRCm39)	Q1005H	possibly damaging	Het
Thra	G	A	11: 98,652,742 (GRCm39)	R189Q	probably damaging	Het
Trappc11	A	T	8: 47,983,685 (GRCm39)		probably null	Het
Vps13d	G	T	4: 144,882,934 (GRCm39)	H886Q	probably damaging	Het
Zfp157	G	A	5: 138,445,859 (GRCm39)	W71*	probably null	Het

Other mutations in Rabggta

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:Rabggta	APN	14	55,956,128 (GRCm39)	missense	probably damaging	0.98
IGL02263:Rabggta	APN	14	55,956,418 (GRCm39)	splice site	probably benign
IGL02293:Rabggta	APN	14	55,959,153 (GRCm39)	missense	probably benign	0.27
IGL02901:Rabggta	APN	14	55,959,138 (GRCm39)	missense	probably benign	0.41
IGL03004:Rabggta	APN	14	55,956,687 (GRCm39)	splice site	probably benign
R0334:Rabggta	UTSW	14	55,958,268 (GRCm39)	missense	probably damaging	1.00
R1914:Rabggta	UTSW	14	55,958,646 (GRCm39)	missense	possibly damaging	0.73
R2926:Rabggta	UTSW	14	55,956,747 (GRCm39)	missense	probably benign	0.00
R4469:Rabggta	UTSW	14	55,953,944 (GRCm39)	missense	probably benign	0.00
R5584:Rabggta	UTSW	14	55,958,289 (GRCm39)	missense	probably benign
R6721:Rabggta	UTSW	14	55,954,660 (GRCm39)	missense	probably damaging	1.00
R6960:Rabggta	UTSW	14	55,959,299 (GRCm39)	critical splice donor site	probably null
R7169:Rabggta	UTSW	14	55,958,358 (GRCm39)	missense	probably damaging	0.99
R7447:Rabggta	UTSW	14	55,956,773 (GRCm39)	missense	probably null	0.11
R7805:Rabggta	UTSW	14	55,956,969 (GRCm39)	missense	probably benign	0.00
R8038:Rabggta	UTSW	14	55,956,387 (GRCm39)	missense	probably benign	0.07
R8422:Rabggta	UTSW	14	55,955,915 (GRCm39)	missense	probably benign	0.21
R9008:Rabggta	UTSW	14	55,955,913 (GRCm39)	missense	probably damaging	1.00
R9018:Rabggta	UTSW	14	55,957,880 (GRCm39)	missense	probably damaging	1.00
R9050:Rabggta	UTSW	14	55,959,056 (GRCm39)	missense	probably benign	0.18
R9232:Rabggta	UTSW	14	55,956,745 (GRCm39)	missense	probably benign	0.01
R9301:Rabggta	UTSW	14	55,957,083 (GRCm39)	missense	probably benign
R9664:Rabggta	UTSW	14	55,956,375 (GRCm39)	nonsense	probably null
R9782:Rabggta	UTSW	14	55,955,944 (GRCm39)	missense	possibly damaging	0.84

Posted On

2015-04-16