Mutagenetix > Incidental Mutation

Incidental Mutation 'R1820:Pank1'

204822

Institutional Source

Beutler Lab

Gene Symbol

Pank1

Ensembl Gene

ENSMUSG00000033610

Gene Name

pantothenate kinase 1

Synonyms

4632412I06Rik, 5430426F23Rik, Pank1b, Pank1a, Pank1

MMRRC Submission

039848-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1820 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34784340-34856855 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 34855084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036584] [ENSMUST00000112460]

AlphaFold

Q8K4K6

Predicted Effect

probably benign
Transcript: ENSMUST00000036584

SMART Domains

Protein: ENSMUSP00000043562
Gene: ENSMUSG00000033610

Domain	Start	End	E-Value	Type
low complexity region	16	29	N/A	INTRINSIC
low complexity region	42	53	N/A	INTRINSIC
low complexity region	135	147	N/A	INTRINSIC
Pfam:Fumble	188	540	1.6e-121	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112460

SMART Domains

Protein: ENSMUSP00000108079
Gene: ENSMUSG00000033610

Domain	Start	End	E-Value	Type
Pfam:Fumble	13	365	3.8e-122	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,197,018 (GRCm39)	V197A	possibly damaging	Het
9230109A22Rik	T	C	15: 25,139,176 (GRCm39)		noncoding transcript	Het
Acbd3	A	G	1: 180,572,703 (GRCm39)	N321S	probably benign	Het
Actr3b	T	C	5: 26,054,156 (GRCm39)		probably null	Het
Aldh5a1	T	C	13: 25,111,555 (GRCm39)	D124G	probably benign	Het
Arhgap35	G	A	7: 16,295,874 (GRCm39)	R1064W	possibly damaging	Het
Arhgef9	T	A	X: 94,125,142 (GRCm39)	I225F	probably damaging	Het
Arl16	T	C	11: 120,357,587 (GRCm39)	T43A	probably damaging	Het
Camsap3	T	C	8: 3,653,485 (GRCm39)	W409R	probably damaging	Het
Cfap43	T	A	19: 47,885,655 (GRCm39)	H320L	probably damaging	Het
Chac2	T	A	11: 30,927,496 (GRCm39)	N141I	probably damaging	Het
Chtf18	C	A	17: 25,944,913 (GRCm39)	G211C	probably damaging	Het
Cplane1	A	G	15: 8,299,129 (GRCm39)	K3106E	unknown	Het
Cwf19l1	T	A	19: 44,115,826 (GRCm39)	Y201F	probably benign	Het
Dcun1d1	A	T	3: 35,973,153 (GRCm39)	L114*	probably null	Het
Fdps	A	T	3: 89,002,350 (GRCm39)	H249Q	probably benign	Het
Fhip1a	T	A	3: 85,573,136 (GRCm39)	T938S	probably damaging	Het
Gabrg1	T	A	5: 70,931,756 (GRCm39)	Y329F	probably damaging	Het
Kctd8	T	A	5: 69,497,684 (GRCm39)	I321F	probably damaging	Het
Kdm5b	G	T	1: 134,525,408 (GRCm39)	R299L	possibly damaging	Het
Kif23	T	C	9: 61,833,720 (GRCm39)	T494A	possibly damaging	Het
Kmt2e	A	G	5: 23,678,545 (GRCm39)	H208R	probably damaging	Het
Lipo5	A	T	19: 33,441,995 (GRCm39)		probably null	Het
Lrrc28	G	T	7: 67,290,859 (GRCm39)	T54K	probably damaging	Het
Luc7l2	G	A	6: 38,575,754 (GRCm39)		probably null	Het
Man2a2	A	G	7: 80,008,681 (GRCm39)	F899L	probably benign	Het
Myo9b	T	C	8: 71,786,002 (GRCm39)	I633T	probably damaging	Het
Nynrin	A	T	14: 56,107,835 (GRCm39)	I981F	possibly damaging	Het
Or5an1c	A	T	19: 12,218,612 (GRCm39)	S138T	probably damaging	Het
Or8g28	A	G	9: 39,169,695 (GRCm39)	I91T	possibly damaging	Het
Phc2	C	T	4: 128,637,336 (GRCm39)	A47V	probably damaging	Het
Plekhs1	A	G	19: 56,466,954 (GRCm39)	R262G	possibly damaging	Het
Pnp2	C	A	14: 51,201,914 (GRCm39)	P300Q	possibly damaging	Het
Polq	T	A	16: 36,849,780 (GRCm39)	S345T	possibly damaging	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Psmd5	T	C	2: 34,760,758 (GRCm39)		probably null	Het
Rfx6	T	G	10: 51,599,221 (GRCm39)		probably null	Het
Rhbdd2	G	A	5: 135,664,903 (GRCm39)	C78Y	probably damaging	Het
Rnf157	G	T	11: 116,245,477 (GRCm39)	P313T	probably damaging	Het
Ryr2	A	G	13: 11,602,202 (GRCm39)	L4560P	probably damaging	Het
Scai	A	T	2: 38,996,990 (GRCm39)	M268K	possibly damaging	Het
Scd3	A	T	19: 44,230,245 (GRCm39)	T343S	probably benign	Het
Scimp	A	T	11: 70,682,423 (GRCm39)	S98T	probably benign	Het
Sfrp2	A	G	3: 83,680,461 (GRCm39)	N207S	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Sp1	T	A	15: 102,317,511 (GRCm39)	S343R	possibly damaging	Het
Spata31d1a	A	T	13: 59,849,069 (GRCm39)	C1020S	possibly damaging	Het
Spink5	A	G	18: 44,122,486 (GRCm39)	N317S	possibly damaging	Het
Sptbn2	A	G	19: 4,776,624 (GRCm39)	D224G	probably damaging	Het
St8sia3	T	C	18: 64,402,703 (GRCm39)	I114T	probably damaging	Het
Zscan5b	C	A	7: 6,242,162 (GRCm39)	H460Q	probably damaging	Het

Other mutations in Pank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01688:Pank1	APN	19	34,818,252 (GRCm39)	missense	probably damaging	1.00
IGL02266:Pank1	APN	19	34,791,086 (GRCm39)	splice site	probably benign
IGL02814:Pank1	APN	19	34,818,255 (GRCm39)	missense	probably damaging	1.00
IGL03029:Pank1	APN	19	34,798,535 (GRCm39)	missense	probably damaging	0.96
snowleopard	UTSW	19	34,789,786 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Pank1	UTSW	19	34,818,366 (GRCm39)	missense	probably damaging	1.00
R0388:Pank1	UTSW	19	34,799,106 (GRCm39)	splice site	probably benign
R1254:Pank1	UTSW	19	34,818,260 (GRCm39)	missense	probably benign	0.16
R1928:Pank1	UTSW	19	34,856,281 (GRCm39)	missense	probably benign
R2117:Pank1	UTSW	19	34,818,486 (GRCm39)	missense	probably damaging	1.00
R2141:Pank1	UTSW	19	34,856,380 (GRCm39)	missense	possibly damaging	0.91
R2147:Pank1	UTSW	19	34,804,754 (GRCm39)	missense	probably benign	0.12
R2226:Pank1	UTSW	19	34,804,763 (GRCm39)	missense	probably damaging	1.00
R4363:Pank1	UTSW	19	34,804,532 (GRCm39)	missense	probably damaging	1.00
R4376:Pank1	UTSW	19	34,855,104 (GRCm39)	missense	probably benign
R5081:Pank1	UTSW	19	34,856,316 (GRCm39)	missense	probably benign
R5172:Pank1	UTSW	19	34,818,202 (GRCm39)	nonsense	probably null
R6706:Pank1	UTSW	19	34,789,786 (GRCm39)	missense	probably damaging	1.00
R6811:Pank1	UTSW	19	34,818,422 (GRCm39)	missense	probably benign	0.37
R7637:Pank1	UTSW	19	34,799,388 (GRCm39)	splice site	probably null
R7957:Pank1	UTSW	19	34,791,096 (GRCm39)	missense	probably damaging	1.00
R8477:Pank1	UTSW	19	34,856,055 (GRCm39)	missense	probably benign
R8725:Pank1	UTSW	19	34,855,989 (GRCm39)	missense	possibly damaging	0.57
R8893:Pank1	UTSW	19	34,804,903 (GRCm39)	intron	probably benign
R9193:Pank1	UTSW	19	34,804,634 (GRCm39)	missense	possibly damaging	0.53
R9235:Pank1	UTSW	19	34,856,197 (GRCm39)	missense	probably benign	0.22
R9664:Pank1	UTSW	19	34,799,194 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

Posted On

2014-06-23