Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02566:Gk5'

298821

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 #

IGL02566

Quality Score

Status

Chromosome

Chromosomal Location

96001415-96066661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96011099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 70 (D70N)

Ref Sequence

ENSEMBL: ENSMUSP00000112717 (fasta)

Gene Model

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

AlphaFold

Q8BX05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085217
AA Change: D70N

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440
AA Change: D70N

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

possibly damaging
Transcript: ENSMUST00000122383
AA Change: D70N

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440
AA Change: D70N

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl4d	A	G	11: 101,557,980 (GRCm39)	S169G	probably damaging	Het
Bbx	A	T	16: 50,043,603 (GRCm39)		probably benign	Het
Blm	A	T	7: 80,123,944 (GRCm39)	M959K	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cyb5d1	T	C	11: 69,284,594 (GRCm39)	N186S	probably benign	Het
Elk3	A	G	10: 93,101,325 (GRCm39)	L142P	probably damaging	Het
Gpr84	T	C	15: 103,217,150 (GRCm39)	D309G	probably benign	Het
Greb1l	T	C	18: 10,503,299 (GRCm39)	V450A	probably damaging	Het
Gucy1b1	A	G	3: 81,965,636 (GRCm39)	F70S	probably damaging	Het
Jmjd4	T	A	11: 59,345,880 (GRCm39)	M320K	probably damaging	Het
Map10	A	G	8: 126,398,494 (GRCm39)	N629S	probably benign	Het
Nmd3	G	T	3: 69,647,247 (GRCm39)		probably benign	Het
Obscn	G	T	11: 58,958,973 (GRCm39)	T3359K	probably damaging	Het
Or2t1	C	A	14: 14,328,138 (GRCm38)	T9K	probably benign	Het
Pkhd1l1	A	G	15: 44,389,450 (GRCm39)		probably null	Het
Plcb1	T	C	2: 135,314,183 (GRCm39)	F1212L	probably benign	Het
Rabep1	A	G	11: 70,808,540 (GRCm39)	S459G	probably damaging	Het
Septin4	T	G	11: 87,458,468 (GRCm39)	S281A	probably benign	Het
Slc26a1	A	G	5: 108,821,665 (GRCm39)	S75P	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Sult1d1	A	T	5: 87,712,670 (GRCm39)	L58Q	probably damaging	Het
Tnrc18	A	T	5: 142,758,068 (GRCm39)		probably benign	Het
Vps35l	C	T	7: 118,352,055 (GRCm39)	A154V	probably benign	Het
Zfp442	T	C	2: 150,251,711 (GRCm39)		probably null	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
IGL01771:Gk5	APN	9	96,059,488 (GRCm39)	missense	probably damaging	0.97
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
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

2015-04-16