Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Gk5'

559052

Institutional Source

Beutler Lab

Gene Symbol

Gk5

Ensembl Gene

ENSMUSG00000041440

Gene Name

glycerol kinase 5

Synonyms

G630067D24Rik, C330018K18Rik

MMRRC Submission

045234-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7182 (G1)

Quality Score

179.009

Status

Validated

Chromosome

Chromosomal Location

96001415-96066661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96001579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 26 (V26L)

Ref Sequence

ENSEMBL: ENSMUSP00000082313 (fasta)

Gene Model

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

AlphaFold

Q8BX05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085217
AA Change: V26L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440
AA Change: V26L

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: V26L

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440
AA Change: V26L

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

possibly damaging
Transcript: ENSMUST00000129774
AA Change: V26L

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123594
Gene: ENSMUSG00000041440
AA Change: V26L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,578 (GRCm39)	V323A	unknown	Het
AC117241.1	A	G	17: 7,620,087 (GRCm39)	V158A	unknown	Het
Acadm	A	G	3: 153,647,518 (GRCm39)		probably null	Het
Adcy10	T	G	1: 165,371,039 (GRCm39)		probably null	Het
Aldh6a1	C	T	12: 84,488,605 (GRCm39)	A94T	probably benign	Het
Ano2	T	A	6: 125,767,256 (GRCm39)	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,596,629 (GRCm39)	R1828H	probably damaging	Het
Ccdc33	A	T	9: 57,941,456 (GRCm39)		probably null	Het
Cep112	A	C	11: 108,573,670 (GRCm39)	D6A	probably benign	Het
Chd9	T	C	8: 91,733,250 (GRCm39)	F1373S	unknown	Het
Cog5	T	C	12: 31,735,707 (GRCm39)	L158P	probably damaging	Het
Col6a3	G	A	1: 90,731,400 (GRCm39)	Q1618*	probably null	Het
Dlg5	A	G	14: 24,294,924 (GRCm39)	V3A		Het
Dnah7a	T	A	1: 53,659,620 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,268,880 (GRCm39)	H716Q	probably benign	Het
Epor	A	G	9: 21,874,625 (GRCm39)	F35L	probably benign	Het
Ergic1	A	T	17: 26,873,856 (GRCm39)	Y92F		Het
Fam98a	G	A	17: 75,846,013 (GRCm39)	Q273*	probably null	Het
Fhdc1	G	A	3: 84,356,157 (GRCm39)	T429I	probably damaging	Het
Fmnl2	T	A	2: 52,997,453 (GRCm39)	L468Q	unknown	Het
Fmnl3	C	T	15: 99,219,663 (GRCm39)	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,811,333 (GRCm39)	M271V	probably damaging	Het
Garin4	C	T	1: 190,895,548 (GRCm39)	R365H	probably damaging	Het
Gm14412	A	C	2: 177,007,408 (GRCm39)	N162K	probably benign	Het
Gm3604	T	C	13: 62,519,689 (GRCm39)	D22G	probably damaging	Het
Gm5565	G	T	5: 146,094,865 (GRCm39)	H294N	probably benign	Het
Hsf2	T	A	10: 57,381,272 (GRCm39)	D287E	possibly damaging	Het
Ift70b	A	T	2: 75,768,293 (GRCm39)	Y153*	probably null	Het
Impdh2	G	A	9: 108,440,407 (GRCm39)	R231H	possibly damaging	Het
Irak3	T	C	10: 120,002,416 (GRCm39)	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,648,765 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,814,149 (GRCm39)	D551E	probably benign	Het
Manba	A	T	3: 135,273,274 (GRCm39)	N736I	probably benign	Het
Map2	A	G	1: 66,451,812 (GRCm39)	D234G	possibly damaging	Het
Mdk	C	A	2: 91,761,197 (GRCm39)	K121N	unknown	Het
Mfn1	T	A	3: 32,618,369 (GRCm39)	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,916,157 (GRCm39)		probably null	Het
Mnat1	G	T	12: 73,277,452 (GRCm39)	E233*	probably null	Het
Mtmr4	T	C	11: 87,495,431 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,660,904 (GRCm39)	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,396,382 (GRCm39)	R165C	unknown	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Nod2	A	G	8: 89,390,460 (GRCm39)	T256A	probably benign	Het
Notch4	T	A	17: 34,802,473 (GRCm39)	V1298E	probably damaging	Het
Nudc	G	T	4: 133,261,776 (GRCm39)	D169E	possibly damaging	Het
Obscn	A	T	11: 58,925,927 (GRCm39)	I5602N	probably damaging	Het
Or5b114-ps1	G	A	19: 13,353,208 (GRCm39)	G294E	unknown	Het
Osbpl10	G	A	9: 114,896,319 (GRCm39)	D18N	probably damaging	Het
Pigk	G	A	3: 152,428,188 (GRCm39)	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,621,153 (GRCm39)	E26K	probably damaging	Het
Prpf8	A	G	11: 75,381,553 (GRCm39)	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,132,070 (GRCm39)	D159G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,774,643 (GRCm39)	H1171R	probably benign	Het
Scn4a	T	A	11: 106,221,134 (GRCm39)	I842F	probably benign	Het
Scnm1	A	T	3: 95,041,165 (GRCm39)	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,400,457 (GRCm39)	I137N	probably benign	Het
Slc30a3	T	C	5: 31,244,169 (GRCm39)	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,247,014 (GRCm39)	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,857,565 (GRCm39)	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,602,656 (GRCm39)	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,648,271 (GRCm39)	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991 (GRCm39)	S3552T	probably benign	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Trim61	A	T	8: 65,466,266 (GRCm39)	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520 (GRCm39)	T227P	probably benign	Het
Trpc3	T	C	3: 36,709,258 (GRCm39)	Q406R	probably benign	Het
Ush2a	A	T	1: 188,485,740 (GRCm39)	Y2950F	probably benign	Het
Usp32	C	T	11: 84,930,996 (GRCm39)	G478D	probably benign	Het
Wdfy3	A	G	5: 102,091,758 (GRCm39)	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,543,426 (GRCm39)	V163A	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAATTCCCACGAGCTGCTC -3'
(R):5'- TTCCACCCAGGTAAAGCTAGAG -3'

Sequencing Primer
(F):5'- TAGCAAGGCTTCCCGAAGG -3'
(R):5'- TAGAGCGCTGAGTCCCG -3'

Posted On

2019-06-26