Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01771:Gk5'

153841

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gk5

Ensembl Gene

ENSMUSG00000041440

Gene Name

glycerol kinase 5

Synonyms

G630067D24Rik, C330018K18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01771

Quality Score

Status

Chromosome

Chromosomal Location

96001415-96066661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96059488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 447 (C447R)

Ref Sequence

ENSEMBL: ENSMUSP00000112717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085217] [ENSMUST00000122383] [ENSMUST00000129774]

AlphaFold

Q8BX05

Predicted Effect

probably damaging
Transcript: ENSMUST00000085217
AA Change: C447R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440
AA Change: C447R

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:FGGY_N	25	287	9e-50	PFAM
Pfam:FGGY_C	296	485	7.7e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122383
AA Change: C447R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440
AA Change: C447R

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:FGGY_N	25	287	1.9e-49	PFAM
Pfam:FGGY_C	296	485	1.8e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129774

SMART Domains

Protein: ENSMUSP00000123594
Gene: ENSMUSG00000041440

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
SCOP:d1bu6o1	24	56	1e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189249

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout does not result in an obvious skin phenotype and does not lead to alopecia. [provided by MGI curators]

Allele List at MGI

All alleles(19) : Targeted(2) Gene trapped(17)

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Capn10	T	A	1: 92,868,087 (GRCm39)	W185R	probably damaging	Het
Frmd8	A	G	19: 5,919,603 (GRCm39)	L148P	probably damaging	Het
Hip1r	T	A	5: 124,137,606 (GRCm39)	V704D	possibly damaging	Het
Kcnj10	C	A	1: 172,197,150 (GRCm39)	H221Q	probably benign	Het
Klk1b8	A	T	7: 43,604,290 (GRCm39)	I253L	probably damaging	Het
Or10aa4-ps1	T	C	1: 173,878,887 (GRCm39)		probably benign	Het
Or1ad8	A	G	11: 50,898,593 (GRCm39)	T265A	probably benign	Het
Or1e29	A	T	11: 73,667,490 (GRCm39)	I221N	probably damaging	Het
Or5ac22	T	C	16: 59,134,891 (GRCm39)	N293S	probably damaging	Het
Or8k40	C	T	2: 86,584,626 (GRCm39)	C152Y	probably benign	Het
Pdp2	A	T	8: 105,320,754 (GRCm39)	Y201F	probably benign	Het
Ppfia1	A	T	7: 144,036,094 (GRCm39)	I1112K	probably benign	Het
Ppwd1	A	G	13: 104,353,624 (GRCm39)	I378T	probably damaging	Het
Rhbdd1	T	A	1: 82,355,313 (GRCm39)	D248E	probably benign	Het
Sec14l5	T	C	16: 4,996,494 (GRCm39)		probably null	Het
Sel1l3	T	G	5: 53,279,183 (GRCm39)	D960A	probably damaging	Het
Slc35f3	T	C	8: 127,115,951 (GRCm39)	Y293H	probably benign	Het
Wwc1	A	G	11: 35,744,185 (GRCm39)		probably null	Het
Zan	T	C	5: 137,391,330 (GRCm39)	N4718S	unknown	Het
Zfyve16	T	C	13: 92,658,680 (GRCm39)	I410M	probably benign	Het

Other mutations in Gk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Gk5	APN	9	96,019,842 (GRCm39)	missense	probably damaging	0.98
IGL01387:Gk5	APN	9	96,059,607 (GRCm39)	critical splice donor site	probably null
IGL02253:Gk5	APN	9	96,019,824 (GRCm39)	missense	probably damaging	1.00
IGL02380:Gk5	APN	9	96,032,533 (GRCm39)	missense	possibly damaging	0.92
IGL02566:Gk5	APN	9	96,011,099 (GRCm39)	missense	possibly damaging	0.56
IGL03137:Gk5	APN	9	96,058,345 (GRCm39)	splice site	probably benign
IGL03256:Gk5	APN	9	96,011,106 (GRCm39)	missense	probably damaging	1.00
IGL03326:Gk5	APN	9	96,019,892 (GRCm39)	critical splice donor site	probably null
barrener	UTSW	9	96,011,149 (GRCm39)	critical splice donor site	probably null
glimpse	UTSW	9	96,063,823 (GRCm39)	critical splice acceptor site	probably null
homer	UTSW	9	96,022,709 (GRCm39)	nonsense	probably null
sean	UTSW	9	96,058,290 (GRCm39)	nonsense	probably null
stripped	UTSW	9	96,011,106 (GRCm39)	missense	probably damaging	1.00
tangyuan	UTSW	9	96,032,850 (GRCm39)	critical splice donor site	probably null
toku	UTSW	9	96,022,682 (GRCm39)	frame shift	probably null
victoria	UTSW	9	96,032,839 (GRCm39)	missense	possibly damaging	0.65
G1patch:Gk5	UTSW	9	96,037,523 (GRCm39)	missense	probably benign	0.01
I1329:Gk5	UTSW	9	96,022,682 (GRCm39)	frame shift	probably null
R0279:Gk5	UTSW	9	96,056,857 (GRCm39)	splice site	probably benign
R0284:Gk5	UTSW	9	96,063,823 (GRCm39)	critical splice acceptor site	probably null
R1134:Gk5	UTSW	9	96,015,460 (GRCm39)	missense	probably benign	0.00
R1184:Gk5	UTSW	9	96,032,473 (GRCm39)	splice site	probably benign
R1772:Gk5	UTSW	9	96,032,850 (GRCm39)	critical splice donor site	probably null
R1781:Gk5	UTSW	9	96,015,508 (GRCm39)	missense	possibly damaging	0.79
R3691:Gk5	UTSW	9	96,011,149 (GRCm39)	critical splice donor site	probably null
R4213:Gk5	UTSW	9	96,011,106 (GRCm39)	missense	probably damaging	1.00
R5015:Gk5	UTSW	9	96,059,470 (GRCm39)	critical splice acceptor site	probably null
R5166:Gk5	UTSW	9	96,056,821 (GRCm39)	missense	probably damaging	0.99
R5643:Gk5	UTSW	9	96,022,709 (GRCm39)	nonsense	probably null
R5857:Gk5	UTSW	9	96,001,508 (GRCm39)	nonsense	probably null
R5924:Gk5	UTSW	9	96,032,563 (GRCm39)	critical splice donor site	probably null
R6109:Gk5	UTSW	9	96,022,663 (GRCm39)	missense	probably benign	0.00
R6138:Gk5	UTSW	9	96,058,290 (GRCm39)	nonsense	probably null
R6725:Gk5	UTSW	9	96,037,523 (GRCm39)	missense	probably benign	0.01
R6812:Gk5	UTSW	9	96,032,802 (GRCm39)	missense	probably damaging	0.99
R7065:Gk5	UTSW	9	96,061,109 (GRCm39)	missense	probably damaging	1.00
R7182:Gk5	UTSW	9	96,001,579 (GRCm39)	missense	possibly damaging	0.89
R7213:Gk5	UTSW	9	96,027,765 (GRCm39)	missense	probably damaging	1.00
R7260:Gk5	UTSW	9	96,001,663 (GRCm39)	missense	probably benign	0.10
R7607:Gk5	UTSW	9	96,035,263 (GRCm39)	splice site	probably null
R7666:Gk5	UTSW	9	96,035,160 (GRCm39)	missense	probably damaging	1.00
R8152:Gk5	UTSW	9	96,056,756 (GRCm39)	missense	probably damaging	1.00
R8355:Gk5	UTSW	9	96,032,839 (GRCm39)	missense	possibly damaging	0.65
R8954:Gk5	UTSW	9	96,059,562 (GRCm39)	missense	probably benign	0.07
R9077:Gk5	UTSW	9	96,001,634 (GRCm39)	missense	probably benign	0.00
R9186:Gk5	UTSW	9	96,015,469 (GRCm39)	missense	probably benign	0.44
U15987:Gk5	UTSW	9	96,058,290 (GRCm39)	nonsense	probably null

Posted On

2014-02-04