Mutagenetix > Incidental Mutation

Incidental Mutation 'R8477:Pank1'

657340

Institutional Source

Beutler Lab

Gene Symbol

Pank1

Ensembl Gene

ENSMUSG00000033610

Gene Name

pantothenate kinase 1

Synonyms

4632412I06Rik, 5430426F23Rik, Pank1b, Pank1a, Pank1

MMRRC Submission

067921-MU

Accession Numbers

Essential gene?

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

Stock #

R8477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34784340-34856855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34856055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 141 (R141L)

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: R141L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043562
Gene: ENSMUSG00000033610
AA Change: R141L

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,924,174 (GRCm39)	S94L	probably benign	Het
Ackr1	C	T	1: 173,159,755 (GRCm39)	G255R	probably damaging	Het
Aldh1l2	G	A	10: 83,337,785 (GRCm39)	T560I	probably damaging	Het
Arhgef25	A	T	10: 127,020,266 (GRCm39)	F384I	probably damaging	Het
Bptf	T	A	11: 106,943,679 (GRCm39)	Q2671L	probably damaging	Het
Ccdc159	A	G	9: 21,844,223 (GRCm39)	E95G	probably damaging	Het
Cenpf	A	T	1: 189,385,385 (GRCm39)	H2298Q	probably benign	Het
Chn2	G	T	6: 54,246,467 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,909,555 (GRCm39)	L224P	probably damaging	Het
Cyp2c54	T	A	19: 40,058,708 (GRCm39)	K241N	probably benign	Het
Cyp2c55	G	T	19: 38,999,485 (GRCm39)	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,823,967 (GRCm39)	Q317H	probably damaging	Het
Dnaja3	A	G	16: 4,505,212 (GRCm39)	D108G	probably null	Het
Dpagt1	G	T	9: 44,243,390 (GRCm39)		probably null	Het
Dzip1	T	C	14: 119,138,958 (GRCm39)	R424G	possibly damaging	Het
Ero1b	A	G	13: 12,616,672 (GRCm39)	K367R	probably benign	Het
Evi2	T	C	11: 79,406,891 (GRCm39)	Y228C	probably benign	Het
Exosc10	A	T	4: 148,649,847 (GRCm39)	I426L	possibly damaging	Het
Gba2	C	T	4: 43,569,944 (GRCm39)	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,730,854 (GRCm39)		probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gvin2	T	C	7: 105,548,133 (GRCm39)	K1640E	possibly damaging	Het
Hc	A	T	2: 34,879,182 (GRCm39)	C1557S	probably damaging	Het
Hfm1	C	T	5: 107,029,684 (GRCm39)	S799N	probably benign	Het
Hibadh	A	T	6: 52,617,185 (GRCm39)	W17R	probably benign	Het
Hivep1	A	T	13: 42,337,696 (GRCm39)	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,031,200 (GRCm39)	T113I	probably benign	Het
Il2rb	A	T	15: 78,370,006 (GRCm39)	V211D	probably damaging	Het
Itgal	A	G	7: 126,900,105 (GRCm39)	Y121C	probably damaging	Het
Kirrel1	T	C	3: 86,992,138 (GRCm39)	T597A	possibly damaging	Het
Lats1	A	G	10: 7,581,279 (GRCm39)	E688G	probably damaging	Het
Lbr	C	T	1: 181,644,539 (GRCm39)	A589T	possibly damaging	Het
Limch1	G	A	5: 67,131,908 (GRCm39)	V133I	probably benign	Het
Mast2	C	T	4: 116,164,407 (GRCm39)	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,684,942 (GRCm39)	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,159,219 (GRCm39)	V833A	probably benign	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or8g28	A	T	9: 39,169,099 (GRCm39)	Y290N	probably damaging	Het
Osgep	C	A	14: 51,155,334 (GRCm39)	A75S	probably damaging	Het
Pcdhb20	T	A	18: 37,638,307 (GRCm39)	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,896,365 (GRCm39)	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Polr2a	G	A	11: 69,626,312 (GRCm39)	P1613S	probably benign	Het
Pramel55	A	C	5: 95,949,567 (GRCm39)	M105L	probably benign	Het
Prom2	A	C	2: 127,381,124 (GRCm39)	S251A	probably benign	Het
R3hdm2	A	G	10: 127,320,029 (GRCm39)	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011 (GRCm39)	V50L	probably benign	Het
Rerg	T	C	6: 137,033,184 (GRCm39)	T164A	probably benign	Het
Rho	T	A	6: 115,912,346 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,575,183 (GRCm39)	T959A	probably damaging	Het
Slc28a3	T	A	13: 58,724,609 (GRCm39)	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,210,119 (GRCm39)	V35I	probably benign	Het
Srpk2	A	T	5: 23,718,986 (GRCm39)	S610T	probably benign	Het
Tasor2	A	G	13: 3,625,079 (GRCm39)	F1624L	probably benign	Het
Tmem147	T	A	7: 30,427,656 (GRCm39)	M86L	probably benign	Het
Trhde	A	G	10: 114,636,622 (GRCm39)	V195A	probably benign	Het
Trio	T	C	15: 27,774,038 (GRCm39)	S112G	possibly damaging	Het
U2af2	T	C	7: 5,078,693 (GRCm39)	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,201,200 (GRCm39)	I252M	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp37	A	G	4: 62,110,240 (GRCm39)	C275R	probably damaging	Het
Zfp532	A	T	18: 65,757,137 (GRCm39)	I357F	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
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
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

PCR Primer
(F):5'- TAGTGTCTGACCGACCCAGTAG -3'
(R):5'- AAGCCGCATTTGAAGTGGC -3'

Sequencing Primer
(F):5'- ATCGGACTAGACAGGCGC -3'
(R):5'- CGCATTTGAAGTGGCTCGGC -3'

Posted On

2021-01-18