Mutagenetix > Incidental Mutation

Incidental Mutation 'R7213:Gk5'

561221

Institutional Source

Beutler Lab

Gene Symbol

Gk5

Ensembl Gene

ENSMUSG00000041440

Gene Name

glycerol kinase 5

Synonyms

G630067D24Rik, C330018K18Rik

MMRRC Submission

045341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96001415-96066661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96027765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 200 (T200M)

Ref Sequence

ENSEMBL: ENSMUSP00000082313 (fasta)

Gene Model

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

AlphaFold

Q8BX05

Predicted Effect

probably damaging
Transcript: ENSMUST00000085217
AA Change: T200M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440
AA Change: T200M

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: T200M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440
AA Change: T200M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	T	9: 124,056,530 (GRCm39)	Y131*	probably null	Het
2310009B15Rik	A	T	1: 138,781,367 (GRCm39)	V94D	probably damaging	Het
Actr1b	T	A	1: 36,741,221 (GRCm39)	N120I	probably damaging	Het
Adam17	A	T	12: 21,386,679 (GRCm39)	Y452*	probably null	Het
Adam19	A	T	11: 46,012,298 (GRCm39)	T265S	probably benign	Het
Adgrb1	A	G	15: 74,441,733 (GRCm39)	T945A	probably benign	Het
Bpifa5	G	A	2: 154,007,903 (GRCm39)	V182M	possibly damaging	Het
Celsr3	C	T	9: 108,726,239 (GRCm39)	T3156I	probably damaging	Het
Cntrl	A	G	2: 35,025,692 (GRCm39)	M674V	possibly damaging	Het
Cry2	C	T	2: 92,244,004 (GRCm39)	V390I	probably benign	Het
Cspg4b	T	A	13: 113,454,475 (GRCm39)	F174I		Het
Cwc25	G	T	11: 97,644,855 (GRCm39)	Q168K	probably benign	Het
Dcbld2	C	T	16: 58,271,126 (GRCm39)	A301V	probably benign	Het
Dclre1a	T	C	19: 56,518,067 (GRCm39)	Y1004C	probably damaging	Het
Ddhd1	A	C	14: 45,895,210 (GRCm39)	S87A	probably benign	Het
Ear1	A	G	14: 44,056,611 (GRCm39)	C86R	probably damaging	Het
Epha5	T	C	5: 84,381,782 (GRCm39)		probably null	Het
Fat2	A	T	11: 55,171,871 (GRCm39)	Y2947*	probably null	Het
Fat4	G	A	3: 39,053,236 (GRCm39)	V4077M	possibly damaging	Het
Fbxl12	A	T	9: 20,550,304 (GRCm39)	V140E	probably damaging	Het
Fbxo16	A	G	14: 65,536,868 (GRCm39)		probably null	Het
Fto	A	T	8: 92,118,135 (GRCm39)	Q29L	probably benign	Het
Gm5916	C	T	9: 36,039,946 (GRCm39)	G14E	possibly damaging	Het
Gm9972	A	T	11: 42,927,235 (GRCm39)		probably benign	Het
Gpr139	T	A	7: 118,744,322 (GRCm39)	M88L	probably benign	Het
Gpr26	T	C	7: 131,569,219 (GRCm39)	L188P	probably damaging	Het
H2ac4	G	T	13: 23,935,146 (GRCm39)	A11S	unknown	Het
Hbp1	A	T	12: 31,987,196 (GRCm39)	S219T	probably benign	Het
Hr	A	T	14: 70,795,790 (GRCm39)	E445V	probably damaging	Het
Il12rb1	A	G	8: 71,269,097 (GRCm39)	K426E	probably benign	Het
Itgbl1	G	A	14: 124,210,709 (GRCm39)	C469Y	probably damaging	Het
Kdm2b	A	T	5: 123,059,532 (GRCm39)	N523K	probably damaging	Het
Kptn	A	G	7: 15,854,704 (GRCm39)	N125S	possibly damaging	Het
Krt17	T	C	11: 100,149,356 (GRCm39)	N238S	probably benign	Het
Lemd3	G	A	10: 120,814,145 (GRCm39)	R363*	probably null	Het
Mmrn1	G	A	6: 60,921,527 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,537,524 (GRCm39)	D64G	probably damaging	Het
Muc16	A	G	9: 18,552,712 (GRCm39)	V4527A	probably benign	Het
Naip2	T	A	13: 100,323,991 (GRCm39)	D193V	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nf1	A	G	11: 79,360,645 (GRCm39)	H1462R	probably benign	Het
Or2n1b	T	C	17: 38,459,965 (GRCm39)	V162A	probably benign	Het
Or5ak20	A	T	2: 85,183,900 (GRCm39)	Y123*	probably null	Het
Pappa2	T	A	1: 158,764,456 (GRCm39)	T352S	possibly damaging	Het
Pcnt	A	G	10: 76,244,738 (GRCm39)	L1114P	probably damaging	Het
Pde6b	T	C	5: 108,551,956 (GRCm39)	Y212H	probably damaging	Het
Pik3c2g	A	T	6: 139,805,990 (GRCm39)	I604F		Het
Pld2	A	G	11: 70,444,198 (GRCm39)	D498G	probably benign	Het
Prag1	A	T	8: 36,613,769 (GRCm39)	Q1107L	probably damaging	Het
Pwp1	A	T	10: 85,712,173 (GRCm39)	I110F	probably benign	Het
Rims4	C	T	2: 163,705,981 (GRCm39)	V218I	probably benign	Het
Rnf10	C	T	5: 115,380,532 (GRCm39)	S754N	probably damaging	Het
Rnf10	T	C	5: 115,380,533 (GRCm39)	S754G	probably damaging	Het
Sel1l2	A	T	2: 140,086,055 (GRCm39)	V512E	probably damaging	Het
Shank2	T	A	7: 143,585,146 (GRCm39)	M49K	probably benign	Het
Sipa1	T	C	19: 5,710,551 (GRCm39)	D153G	probably damaging	Het
Slc46a2	C	T	4: 59,914,279 (GRCm39)	V215I	possibly damaging	Het
Slco6c1	G	A	1: 97,055,671 (GRCm39)	L77F	probably benign	Het
Smarca2	T	C	19: 26,624,531 (GRCm39)	L397P	possibly damaging	Het
Spg7	C	T	8: 123,816,971 (GRCm39)	A554V	probably damaging	Het
Stab1	T	A	14: 30,865,630 (GRCm39)	M1753L	probably benign	Het
Stk11	A	G	10: 79,952,452 (GRCm39)	M1V	probably null	Het
Supt6	C	A	11: 78,122,976 (GRCm39)	G136C	probably damaging	Het
Svil	G	T	18: 5,094,574 (GRCm39)	R1418L	probably damaging	Het
Tfg	A	G	16: 56,521,516 (GRCm39)	S167P	probably benign	Het
Timeless	T	C	10: 128,079,158 (GRCm39)	V335A	probably benign	Het
Tll2	C	A	19: 41,108,666 (GRCm39)	R328L	probably damaging	Het
Tomm7	T	C	5: 24,049,059 (GRCm39)	S5G	possibly damaging	Het
Ttc39c	G	A	18: 12,820,138 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,556,105 (GRCm39)	E30300G	probably benign	Het
Tuba4a	A	T	1: 75,192,341 (GRCm39)	D452E	possibly damaging	Het
Tubgcp2	T	C	7: 139,587,927 (GRCm39)	I233V	probably benign	Het
Tubgcp5	T	A	7: 55,455,860 (GRCm39)	V296E	probably damaging	Het
Vmn2r53	T	C	7: 12,334,983 (GRCm39)	S226G	probably benign	Het
Xrcc6	T	C	15: 81,901,027 (GRCm39)		probably benign	Het
Zfhx4	C	A	3: 5,461,704 (GRCm39)	D1192E	probably benign	Het
Zfp180	G	T	7: 23,803,938 (GRCm39)	W119L	possibly damaging	Het
Zfp3	A	G	11: 70,663,351 (GRCm39)	I437V	probably benign	Het
Zfp616	A	T	11: 73,976,689 (GRCm39)	Q986L	probably benign	Het
Zfp937	T	A	2: 150,081,385 (GRCm39)	C472S	probably 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
R7182:Gk5	UTSW	9	96,001,579 (GRCm39)	missense	possibly damaging	0.89
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'- AAGAACTCCTTCCTAAGTCCCATTC -3'
(R):5'- GACATGTAGTCTCACCGGTGTG -3'

Sequencing Primer
(F):5'- CCTTCCTAAGTCCCATTCACTAAG -3'
(R):5'- TAGTCTCACCGGTGTGGCAAAC -3'

Posted On

2019-06-26