Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01359:Gk5'

75664

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gk5

Ensembl Gene

ENSMUSG00000041440

Gene Name

glycerol kinase 5 (putative)

Synonyms

C330018K18Rik, G630067D24Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01359

Quality Score

Status

Chromosome

Chromosomal Location

96119362-96184608 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96137789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 126 (L126P)

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: L126P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440
AA Change: L126P

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: L126P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440
AA Change: L126P

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: ENSMUST00000136496

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	G	A	17: 43,310,686	E605K	probably damaging	Het
Adgrl4	G	A	3: 151,543,286	C737Y	probably damaging	Het
Ankk1	A	T	9: 49,416,028	I617N	possibly damaging	Het
B3gat2	T	C	1: 23,763,220	F196L	probably damaging	Het
Bcl2l14	T	A	6: 134,423,865	I83N	probably damaging	Het
Bcr	T	C	10: 75,159,779		probably benign	Het
Ckmt2	A	T	13: 91,861,820	I127N	probably damaging	Het
Dhx33	G	A	11: 70,993,861	Q40*	probably null	Het
Dnah11	T	C	12: 117,982,999	T3117A	probably damaging	Het
Dnaic2	A	G	11: 114,751,788	Y405C	probably benign	Het
Emc2	A	G	15: 43,511,749	Y214C	probably damaging	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fkrp	C	T	7: 16,811,490	R149Q	probably benign	Het
Fsd1l	A	G	4: 53,659,601	R153G	possibly damaging	Het
Galnt4	T	C	10: 99,109,597	Y395H	probably damaging	Het
Gm973	A	G	1: 59,630,279	S830G	probably benign	Het
Gpc5	G	A	14: 115,369,750	G255S	possibly damaging	Het
Grk3	C	A	5: 112,937,760	S370I	probably damaging	Het
Herc1	A	G	9: 66,439,268	D1972G	probably benign	Het
Itih3	T	A	14: 30,917,772	D364V	probably damaging	Het
Lce1f	G	T	3: 92,719,184	C55*	probably null	Het
Ltn1	A	C	16: 87,405,693		probably benign	Het
Lyl1	C	T	8: 84,702,686	A8V	possibly damaging	Het
Mdn1	A	G	4: 32,743,686	E3974G	probably benign	Het
Msl3l2	T	C	10: 56,116,244	V355A	probably damaging	Het
Nadsyn1	T	C	7: 143,821,230	I30V	possibly damaging	Het
Nuggc	T	C	14: 65,623,207	V418A	probably damaging	Het
Olfr1308	A	T	2: 111,961,061	M4K	probably benign	Het
Olfr553	A	T	7: 102,614,172	H272Q	probably benign	Het
Olfr671	T	C	7: 104,975,986		probably null	Het
Ppp4r3a	T	C	12: 101,058,496	E248G	probably damaging	Het
Rab3gap2	T	A	1: 185,238,870	V234E	probably damaging	Het
Radil	G	A	5: 142,543,713	T105I	probably damaging	Het
Saa4	A	G	7: 46,731,636	W21R	possibly damaging	Het
Sec62	G	A	3: 30,814,306	S228N	unknown	Het
Setd4	C	T	16: 93,591,239	G120S	probably damaging	Het
Sgpl1	G	A	10: 61,100,908	T556I	probably benign	Het
Slc14a2	T	C	18: 78,154,108	D811G	probably benign	Het
Slc26a11	A	T	11: 119,363,431	M192L	probably benign	Het
Spon1	A	T	7: 114,034,290	Q656L	probably damaging	Het
Tex15	A	G	8: 33,581,898	D2491G	probably damaging	Het
Tox	T	C	4: 6,697,583	T407A	probably damaging	Het
Ubr5	A	T	15: 37,973,006	I2611N	probably damaging	Het
Usp25	G	A	16: 77,059,253	A245T	probably damaging	Het
Vwa8	C	A	14: 79,064,913	Y1007*	probably null	Het
Zfp423	T	C	8: 87,780,662	H893R	probably damaging	Het
Zfp507	A	G	7: 35,794,502	I372T	probably damaging	Het

Other mutations in Gk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Gk5	APN	9	96177554	critical splice donor site	probably null
IGL01771:Gk5	APN	9	96177435	missense	probably damaging	0.97
IGL02253:Gk5	APN	9	96137771	missense	probably damaging	1.00
IGL02380:Gk5	APN	9	96150480	missense	possibly damaging	0.92
IGL02566:Gk5	APN	9	96129046	missense	possibly damaging	0.56
IGL03137:Gk5	APN	9	96176292	splice site	probably benign
IGL03256:Gk5	APN	9	96129053	missense	probably damaging	1.00
IGL03326:Gk5	APN	9	96137839	critical splice donor site	probably null
barrener	UTSW	9	96129096	critical splice donor site	probably null
glimpse	UTSW	9	96181770	critical splice acceptor site	probably null
homer	UTSW	9	96140656	nonsense	probably null
sean	UTSW	9	96176237	nonsense	probably null
stripped	UTSW	9	96129053	missense	probably damaging	1.00
tangyuan	UTSW	9	96150797	critical splice donor site	probably null
toku	UTSW	9	96140629	frame shift	probably null
victoria	UTSW	9	96150786	missense	possibly damaging	0.65
G1patch:Gk5	UTSW	9	96155470	missense	probably benign	0.01
I1329:Gk5	UTSW	9	96140629	frame shift	probably null
R0279:Gk5	UTSW	9	96174804	splice site	probably benign
R0284:Gk5	UTSW	9	96181770	critical splice acceptor site	probably null
R1134:Gk5	UTSW	9	96133407	missense	probably benign	0.00
R1184:Gk5	UTSW	9	96150420	splice site	probably benign
R1772:Gk5	UTSW	9	96150797	critical splice donor site	probably null
R1781:Gk5	UTSW	9	96133455	missense	possibly damaging	0.79
R3691:Gk5	UTSW	9	96129096	critical splice donor site	probably null
R4213:Gk5	UTSW	9	96129053	missense	probably damaging	1.00
R5015:Gk5	UTSW	9	96177417	critical splice acceptor site	probably null
R5166:Gk5	UTSW	9	96174768	missense	probably damaging	0.99
R5643:Gk5	UTSW	9	96140656	nonsense	probably null
R5857:Gk5	UTSW	9	96119455	nonsense	probably null
R5924:Gk5	UTSW	9	96150510	critical splice donor site	probably null
R6109:Gk5	UTSW	9	96140610	missense	probably benign	0.00
R6138:Gk5	UTSW	9	96176237	nonsense	probably null
R6725:Gk5	UTSW	9	96155470	missense	probably benign	0.01
R6812:Gk5	UTSW	9	96150749	missense	probably damaging	0.99
R7065:Gk5	UTSW	9	96179056	missense	probably damaging	1.00
R7182:Gk5	UTSW	9	96119526	missense	possibly damaging	0.89
R7213:Gk5	UTSW	9	96145712	missense	probably damaging	1.00
R7260:Gk5	UTSW	9	96119610	missense	probably benign	0.10
R7607:Gk5	UTSW	9	96153210	splice site	probably null
R7666:Gk5	UTSW	9	96153107	missense	probably damaging	1.00
R8152:Gk5	UTSW	9	96174703	missense	probably damaging	1.00
R8355:Gk5	UTSW	9	96150786	missense	possibly damaging	0.65
R8954:Gk5	UTSW	9	96177509	missense	probably benign	0.07
R9077:Gk5	UTSW	9	96119581	missense	probably benign	0.00
R9186:Gk5	UTSW	9	96133416	missense	probably benign	0.44
U15987:Gk5	UTSW	9	96176237	nonsense	probably null

Posted On

2013-10-07