Mutagenetix > Incidental Mutation

Incidental Mutation 'R9235:Pank1'

700453

Institutional Source

Beutler Lab

Gene Symbol

Pank1

Ensembl Gene

ENSMUSG00000033610

Gene Name

pantothenate kinase 1

Synonyms

4632412I06Rik, 5430426F23Rik, Pank1b, Pank1a, Pank1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9235 (G1)

Quality Score

167.009

Status

Validated

Chromosome

Chromosomal Location

34784340-34856855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34856197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 94 (A94S)

Ref Sequence

ENSEMBL: ENSMUSP00000043562 (fasta)

Gene Model

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

AlphaFold

Q8K4K6

Predicted Effect

probably benign
Transcript: ENSMUST00000036584
AA Change: A94S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043562
Gene: ENSMUSG00000033610
AA Change: A94S

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 benign
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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,623,518 (GRCm39)	I76N	possibly damaging	Het
4930558K02Rik	T	C	1: 161,780,172 (GRCm39)	H114R	possibly damaging	Het
C2	T	C	17: 35,083,845 (GRCm39)	D414G	probably damaging	Het
Catsper4	C	T	4: 133,954,606 (GRCm39)	D15N	probably benign	Het
Ccnb2	A	G	9: 70,318,163 (GRCm39)	V203A	probably damaging	Het
Cd2	A	G	3: 101,195,159 (GRCm39)	F13L	probably benign	Het
Cwf19l1	G	A	19: 44,113,275 (GRCm39)	A227V	probably damaging	Het
Dis3l2	G	A	1: 86,749,061 (GRCm39)	D176N	possibly damaging	Het
Dmpk	T	G	7: 18,822,141 (GRCm39)	N366K	probably damaging	Het
Dnajb12	C	T	10: 59,728,799 (GRCm39)	T229I	probably benign	Het
Efcab3	A	G	11: 104,907,987 (GRCm39)	D4479G	probably benign	Het
Fat3	T	A	9: 15,833,674 (GRCm39)	E126V	probably null	Het
Fbxo27	T	A	7: 28,397,756 (GRCm39)	Y264*	probably null	Het
Fign	A	G	2: 63,810,907 (GRCm39)	M121T	probably damaging	Het
Flt3	T	C	5: 147,320,202 (GRCm39)	Y54C	possibly damaging	Het
Frmd4a	G	A	2: 4,599,366 (GRCm39)	R460H	probably damaging	Het
Igkv4-53	A	T	6: 69,626,301 (GRCm39)	I13N	possibly damaging	Het
Islr	T	A	9: 58,064,944 (GRCm39)	I188F	possibly damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Klra3	A	T	6: 130,311,218 (GRCm39)	C54*	probably null	Het
Klrb1b	A	G	6: 128,795,547 (GRCm39)	F140S	probably damaging	Het
Kmt2c	T	C	5: 25,504,997 (GRCm39)	E3437G	probably damaging	Het
Mdn1	C	A	4: 32,739,122 (GRCm39)	L3648I	probably benign	Het
Mlxipl	C	A	5: 135,157,541 (GRCm39)	T359K	possibly damaging	Het
Morc3	T	C	16: 93,659,321 (GRCm39)	W410R	probably damaging	Het
Mrpl49	G	A	19: 6,105,147 (GRCm39)	R105*	probably null	Het
Myom3	T	A	4: 135,541,653 (GRCm39)	Y1415N	probably damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nrap	A	T	19: 56,330,760 (GRCm39)	Y1100*	probably null	Het
Or14a257	A	T	7: 86,138,306 (GRCm39)	V151E	probably benign	Het
Or5d43	A	T	2: 88,104,724 (GRCm39)	I223N	probably damaging	Het
Or5t5	T	C	2: 86,616,548 (GRCm39)	I158T	probably benign	Het
Or6c8b	G	T	10: 128,882,051 (GRCm39)	Q294K	probably benign	Het
Pikfyve	C	A	1: 65,299,188 (GRCm39)	T1613K	probably benign	Het
Plbd2	T	A	5: 120,626,554 (GRCm39)	I352L	probably benign	Het
Plec	T	C	15: 76,059,701 (GRCm39)	D3412G	probably damaging	Het
Plekhd1	T	A	12: 80,768,791 (GRCm39)	Y425N	possibly damaging	Het
Plscr5	A	G	9: 92,086,417 (GRCm39)	N129S	possibly damaging	Het
Prkdc	T	A	16: 15,651,751 (GRCm39)	M3796K	probably damaging	Het
Psme3	A	T	11: 101,211,594 (GRCm39)	E213D	possibly damaging	Het
Ptprn2	G	A	12: 117,233,271 (GRCm39)		probably null	Het
Sema5a	A	G	15: 32,619,034 (GRCm39)	S521G	probably benign	Het
Slc34a2	A	T	5: 53,226,667 (GRCm39)	M597L	probably benign	Het
Slc6a13	A	G	6: 121,301,984 (GRCm39)	R189G	probably damaging	Het
Smyd4	G	A	11: 75,295,689 (GRCm39)	E782K	probably benign	Het
Sspo	T	A	6: 48,466,718 (GRCm39)	C4078S	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ttc21a	G	T	9: 119,774,559 (GRCm39)	R271L	probably benign	Het
Ubr5	A	G	15: 38,045,982 (GRCm39)	L114P		Het
Ugt1a2	A	G	1: 88,128,488 (GRCm39)	R44G	possibly damaging	Het
Ulk4	G	A	9: 120,981,217 (GRCm39)	T907I	probably benign	Het
Unc13a	G	T	8: 72,115,912 (GRCm39)	L97I	probably benign	Het
Uqcc6	A	T	10: 82,458,586 (GRCm39)	C22S	possibly damaging	Het
Vmn1r25	A	G	6: 57,955,488 (GRCm39)	L267P	probably damaging	Het
Vmn2r101	T	A	17: 19,810,238 (GRCm39)	N341K	probably damaging	Het
Wdr3	T	A	3: 100,054,023 (GRCm39)	Q534L	probably benign	Het
Zfp28	A	T	7: 6,397,605 (GRCm39)	H680L	probably damaging	Het
Zfp986	T	A	4: 145,625,759 (GRCm39)	F140I	probably benign	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
R1820:Pank1	UTSW	19	34,855,084 (GRCm39)	critical splice donor site	probably null
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
R9664:Pank1	UTSW	19	34,799,194 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGAATCATGCTGGGCGAAC -3'
(R):5'- AGCCGCATTTGAAGTGGCTC -3'

Sequencing Primer
(F):5'- TGCAGCTCGGACGGGAG -3'
(R):5'- GCTCGGCCTTGGGATGAG -3'

Posted On

2022-02-07