Mutagenetix > Incidental Mutation

Incidental Mutation 'R9664:Pank1'

735680

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 #

R9664 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34784340-34856855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34799194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 419 (T419I)

Ref Sequence

ENSEMBL: ENSMUSP00000043562 (fasta)

Gene Model

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

AlphaFold

Q8K4K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000036584
AA Change: T419I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043562
Gene: ENSMUSG00000033610
AA Change: T419I

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 damaging
Transcript: ENSMUST00000112460
AA Change: T244I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108079
Gene: ENSMUSG00000033610
AA Change: T244I

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	G	A	15: 76,478,383 (GRCm39)	D277N	probably damaging	Het
Adgrv1	A	T	13: 81,670,288 (GRCm39)	S2353T	probably benign	Het
Adgrv1	A	T	13: 81,743,371 (GRCm39)	N43K	probably damaging	Het
Adnp2	A	G	18: 80,185,937 (GRCm39)	I12T	probably damaging	Het
Ahnak2	A	G	12: 112,741,363 (GRCm39)	L903P	probably damaging	Het
Ankhd1	T	G	18: 36,780,878 (GRCm39)	S1977A	probably benign	Het
Ap1m2	T	C	9: 21,216,983 (GRCm39)	M118V	probably benign	Het
Ap3d1	T	C	10: 80,548,639 (GRCm39)	K846R	possibly damaging	Het
Aqr	C	A	2: 113,971,396 (GRCm39)	E480*	probably null	Het
Arl6	G	T	16: 59,434,199 (GRCm39)	Q182K	probably benign	Het
Arpc2	A	G	1: 74,294,034 (GRCm39)	K106E	probably benign	Het
Atp8a1	A	C	5: 67,889,524 (GRCm39)	F599V		Het
B3galt5	A	T	16: 96,117,203 (GRCm39)	I279F	probably damaging	Het
Calcoco2	G	T	11: 95,991,104 (GRCm39)	A211D	unknown	Het
Ccdc33	T	C	9: 57,993,855 (GRCm39)	E342G	possibly damaging	Het
Ccdc88a	C	A	11: 29,405,484 (GRCm39)	Q386K	probably benign	Het
Cdh20	A	G	1: 104,862,065 (GRCm39)	K82E	probably benign	Het
Clca3a2	A	T	3: 144,503,575 (GRCm39)	Y792N	probably damaging	Het
Col6a6	T	C	9: 105,658,254 (GRCm39)	I653V	probably benign	Het
Col7a1	C	T	9: 108,812,649 (GRCm39)	R2826W	unknown	Het
D6Ertd527e	A	G	6: 87,088,908 (GRCm39)	N357S	unknown	Het
Dmgdh	T	A	13: 93,857,123 (GRCm39)	N742K	probably benign	Het
Dnai3	T	C	3: 145,748,594 (GRCm39)	N840S	probably benign	Het
Dnajc6	A	G	4: 101,475,821 (GRCm39)	N565D	probably benign	Het
Doc2g	A	G	19: 4,054,390 (GRCm39)	Y155C	probably damaging	Het
Dot1l	G	A	10: 80,624,361 (GRCm39)	G943D	probably damaging	Het
Dst	T	C	1: 34,220,736 (GRCm39)	V2180A	probably benign	Het
Eftud2	A	C	11: 102,759,422 (GRCm39)	Y160*	probably null	Het
Ehd1	A	T	19: 6,331,262 (GRCm39)	Q140L	probably benign	Het
Etv3	T	C	3: 87,443,172 (GRCm39)	V252A	probably benign	Het
F11	A	T	8: 45,694,566 (GRCm39)	C598*	probably null	Het
Fancm	T	A	12: 65,137,758 (GRCm39)	N316K	probably benign	Het
Flnc	T	C	6: 29,457,214 (GRCm39)	V2372A	probably damaging	Het
Fry	A	G	5: 150,282,488 (GRCm39)	R338G	probably damaging	Het
Gfra3	T	C	18: 34,837,591 (GRCm39)	T136A	probably benign	Het
Golga7b	T	C	19: 42,255,462 (GRCm39)	V113A	possibly damaging	Het
Gpn3	G	T	5: 122,520,306 (GRCm39)	V102L		Het
Herc2	A	G	7: 55,820,338 (GRCm39)	N2859S	possibly damaging	Het
Hpd	A	T	5: 123,318,948 (GRCm39)		probably null	Het
Hspg2	C	T	4: 137,266,887 (GRCm39)	T1964I	probably benign	Het
Hydin	A	T	8: 111,220,965 (GRCm39)	T1454S	probably benign	Het
Irgm2	A	T	11: 58,110,872 (GRCm39)	T188S	possibly damaging	Het
Jak3	A	G	8: 72,131,366 (GRCm39)	D77G	probably damaging	Het
Kcnj4	G	T	15: 79,369,220 (GRCm39)	F253L	possibly damaging	Het
Kidins220	T	A	12: 25,106,895 (GRCm39)	D1358E	probably benign	Het
Klf1	C	A	8: 85,630,061 (GRCm39)	C295*	probably null	Het
Kmt2a	C	T	9: 44,760,102 (GRCm39)	W582*	probably null	Het
Lrig2	A	G	3: 104,371,556 (GRCm39)	C716R	probably damaging	Het
Lrp1b	C	T	2: 40,765,004 (GRCm39)	D2941N		Het
Lrpprc	A	T	17: 85,020,262 (GRCm39)	V1141E	probably damaging	Het
Mrgprx1	C	T	7: 47,671,273 (GRCm39)	G158D	probably benign	Het
Muc5b	C	A	7: 141,409,279 (GRCm39)	A1121D	unknown	Het
Nf1	G	T	11: 79,334,733 (GRCm39)	V852L	probably damaging	Het
Nlrp5	A	G	7: 23,118,286 (GRCm39)	E670G	probably benign	Het
Notch4	A	G	17: 34,784,601 (GRCm39)	T101A	probably benign	Het
Or10a49	T	C	7: 108,467,563 (GRCm39)	Y266C	probably damaging	Het
Or2t35	T	A	14: 14,407,963 (GRCm38)	I245K	probably benign	Het
Or5b123	G	A	19: 13,597,365 (GRCm39)	V237I	probably benign	Het
P2rx2	T	C	5: 110,488,172 (GRCm39)	T461A	probably benign	Het
Patz1	T	C	11: 3,244,562 (GRCm39)	V481A	unknown	Het
Pdlim5	A	G	3: 142,018,058 (GRCm39)	L179P	probably benign	Het
Pik3ap1	A	T	19: 41,296,967 (GRCm39)	V461D	probably damaging	Het
Polq	T	C	16: 36,848,176 (GRCm39)	V261A	probably damaging	Het
Ppm1a	G	A	12: 72,837,451 (GRCm39)	V333M	possibly damaging	Het
R3hcc1l	T	C	19: 42,552,671 (GRCm39)	L556P	probably benign	Het
Rabggta	G	A	14: 55,956,375 (GRCm39)	Q365*	probably null	Het
Ranbp9	T	C	13: 43,578,519 (GRCm39)	T185A	probably benign	Het
Rd3l	T	G	12: 111,945,913 (GRCm39)	N189H	probably damaging	Het
Rnf17	A	G	14: 56,722,636 (GRCm39)	T1066A	probably damaging	Het
Rnf213	G	A	11: 119,332,794 (GRCm39)	A2669T		Het
Ros1	T	A	10: 51,996,931 (GRCm39)	H1268L	probably benign	Het
Rps6ka4	G	T	19: 6,809,354 (GRCm39)	S433R	possibly damaging	Het
Ryr1	A	G	7: 28,759,092 (GRCm39)	L3362P	probably damaging	Het
Setd1b	A	T	5: 123,298,046 (GRCm39)	T1361S	unknown	Het
Setd2	T	C	9: 110,377,570 (GRCm39)	S462P	probably damaging	Het
Sgsm3	A	T	15: 80,890,935 (GRCm39)	Q132L	probably benign	Het
Slx1b	C	A	7: 126,291,698 (GRCm39)	R122L	probably damaging	Het
Sorbs2	A	T	8: 46,276,788 (GRCm39)	T1167S	probably benign	Het
Spdya	A	C	17: 71,869,513 (GRCm39)	T103P	probably damaging	Het
Stfa2	A	G	16: 36,228,638 (GRCm39)	S20P	probably benign	Het
Sulf1	A	G	1: 12,891,026 (GRCm39)	T400A	probably benign	Het
Tardbp	A	T	4: 148,709,751 (GRCm39)	D23E	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tgm1	C	T	14: 55,948,441 (GRCm39)	D237N	probably benign	Het
Tgs1	T	A	4: 3,585,964 (GRCm39)	N280K	probably benign	Het
Tmem198	A	T	1: 75,459,272 (GRCm39)	I76F	possibly damaging	Het
Trpv2	A	T	11: 62,475,385 (GRCm39)	Y266F	probably damaging	Het
Ttn	C	T	2: 76,569,845 (GRCm39)	G27016E	probably damaging	Het
Ttn	T	C	2: 76,781,824 (GRCm39)	E1074G	unknown	Het
Unc5b	A	T	10: 60,613,322 (GRCm39)	W305R	probably damaging	Het
Usp38	A	G	8: 81,741,164 (GRCm39)		probably benign	Het
Vmn1r79	A	G	7: 11,910,582 (GRCm39)	T155A	probably benign	Het
Vwce	G	A	19: 10,615,481 (GRCm39)	V121I	probably benign	Het
Wdr91	A	T	6: 34,865,961 (GRCm39)	D530E	probably benign	Het
Wnt4	A	G	4: 137,023,929 (GRCm39)	T299A	probably benign	Het
Yeats2	T	A	16: 20,047,491 (GRCm39)	Y1284*	probably null	Het
Zfp113	A	T	5: 138,148,888 (GRCm39)	Y85*	probably null	Het
Zfp184	A	G	13: 22,144,096 (GRCm39)	T601A	probably benign	Het
Zfp655	A	G	5: 145,180,442 (GRCm39)	E100G	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
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

Predicted Primers

PCR Primer
(F):5'- AGATATTTGCACCAGGCTGG -3'
(R):5'- TTATAACGCTGGCCCCTGAC -3'

Sequencing Primer
(F):5'- GTAGGCTGACATGTATTTGAAAAAGC -3'
(R):5'- GCTGCTCTTCACCAAAGCG -3'

Posted On

2022-11-14