Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Pank4'

356786

Institutional Source

Beutler Lab

Gene Symbol

Pank4

Ensembl Gene

ENSMUSG00000029056

Gene Name

pantothenate kinase 4

Synonyms

D030031I12Rik

MMRRC Submission

041974-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154964123-154980938 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154974634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 408 (D408G)

Ref Sequence

ENSEMBL: ENSMUSP00000064330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030931] [ENSMUST00000070953]

AlphaFold

Q80YV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030931
AA Change: D408G

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030931
Gene: ENSMUSG00000029056
AA Change: D408G

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
Pfam:Fumble	35	369	1.5e-142	PFAM
low complexity region	415	428	N/A	INTRINSIC
Pfam:DUF89	451	763	1.4e-64	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070953
AA Change: D408G

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000064330
Gene: ENSMUSG00000029056
AA Change: D408G

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
Pfam:Fumble	36	367	1.8e-133	PFAM
low complexity region	415	428	N/A	INTRINSIC
Pfam:DUF89	451	810	3.1e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148299

Predicted Effect

unknown
Transcript: ENSMUST00000148934
AA Change: D265G

SMART Domains

Protein: ENSMUSP00000125663
Gene: ENSMUSG00000029056
AA Change: D265G

Domain	Start	End	E-Value	Type
Pfam:Fumble	1	225	2.6e-103	PFAM
low complexity region	273	286	N/A	INTRINSIC
Pfam:DUF89	309	472	1.9e-30	PFAM

Meta Mutation Damage Score

0.2647

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,721,305	M723K	probably benign	Het
A530053G22Rik	A	G	6: 60,402,101		noncoding transcript	Het
Abcc2	A	T	19: 43,810,481	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,571,463	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,563,523	Y332C	probably damaging	Het
Ambn	C	T	5: 88,467,707	L317F	probably damaging	Het
Amn1	T	C	6: 149,185,113	Y17C	probably benign	Het
Apoa5	T	C	9: 46,270,295	V223A	probably damaging	Het
BC048403	T	C	10: 121,740,007	V11A	probably damaging	Het
Best3	A	T	10: 117,024,794	H653L	probably benign	Het
Btnl2	C	A	17: 34,363,195	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,362,056	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,705,635	D698V	probably damaging	Het
Cd33	T	C	7: 43,529,495	T307A	probably benign	Het
Cdk8	C	T	5: 146,292,666	S230L	probably benign	Het
Cfap69	C	T	5: 5,646,939	C119Y	probably damaging	Het
Chat	T	C	14: 32,453,737	N122S	probably benign	Het
Col20a1	A	T	2: 180,984,403		probably benign	Het
Cyp2j9	A	T	4: 96,568,791	L481Q	probably damaging	Het
Dab1	A	C	4: 104,732,145	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,773,380	Q533P	probably damaging	Het
Eif4g3	A	T	4: 138,084,318	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,719,043	V438M	probably damaging	Het
Eva1c	G	A	16: 90,904,250	D258N	probably benign	Het
Fastkd2	A	G	1: 63,745,886	H477R	probably benign	Het
Fga	T	G	3: 83,031,514	S399A	probably benign	Het
Fmo4	T	A	1: 162,809,827	E32V	probably damaging	Het
Gm13083	G	A	4: 143,617,231	R367K	probably benign	Het
Gm1840	G	A	8: 5,640,473		noncoding transcript	Het
Gm7204	T	A	16: 48,218,688		noncoding transcript	Het
Hhipl1	A	G	12: 108,320,077	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,637,190	T63A	probably benign	Het
Igf2r	A	G	17: 12,703,465	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 115,024,047	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,791,462	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Ipo5	T	C	14: 120,941,642	V779A	probably benign	Het
Itpr1	C	T	6: 108,349,632	T105I	probably benign	Het
Kalrn	T	C	16: 34,198,487	M670V	probably damaging	Het
Kdm8	T	A	7: 125,455,259		probably null	Het
L3hypdh	T	C	12: 72,077,242	I281V	probably benign	Het
Lins1	T	G	7: 66,714,687		probably benign	Het
Map4k5	T	A	12: 69,824,598	I517L	possibly damaging	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mlkl	C	G	8: 111,319,716		probably null	Het
Mllt1	A	G	17: 56,902,630	M160T	probably benign	Het
Mmp15	G	A	8: 95,368,196	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,891,603	T23N	probably benign	Het
Nop53	C	A	7: 15,942,887	K100N	probably benign	Het
Nrg1	C	A	8: 31,918,200	E2*	probably null	Het
Olfr654	T	A	7: 104,588,489	H228Q	probably benign	Het
Pcdhb10	T	C	18: 37,411,942	W24R	probably benign	Het
Pcm1	C	T	8: 41,287,738	T968I	probably damaging	Het
Pkib	G	T	10: 57,708,150	M19I	probably benign	Het
Ppy	A	G	11: 102,100,519		probably null	Het
Prdx3	A	C	19: 60,873,183	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,221,924	N106H	probably benign	Het
Rai14	G	A	15: 10,575,690	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,346,749	L1371Q	probably benign	Het
Rbm12	A	G	2: 156,097,128	L408P	probably damaging	Het
Rdx	T	C	9: 52,065,874	I141T	probably benign	Het
Reep1	T	A	6: 71,708,001	V11E	possibly damaging	Het
Sall4	A	G	2: 168,750,427	S936P	probably damaging	Het
Serac1	A	G	17: 6,051,790	M403T	possibly damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,553,496	I41L	probably benign	Het
Slc39a12	G	A	2: 14,400,323	S242N	probably benign	Het
Slc9a2	T	A	1: 40,761,916	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,701,645	P890T	probably damaging	Het
Sync	A	G	4: 129,293,439	Q88R	probably benign	Het
Tdrp	A	G	8: 13,974,527		probably benign	Het
Tg	G	T	15: 66,693,319	C1170F	probably damaging	Het
Tnks	A	T	8: 34,851,783	D781E	probably benign	Het
Tnp2	T	A	16: 10,788,343	T87S	possibly damaging	Het
Tpp2	T	C	1: 43,971,715	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,645,739	I431T	probably damaging	Het
Trav9d-4	A	T	14: 52,983,801	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,184,277	Y782F	probably damaging	Het
Vwf	T	C	6: 125,570,604	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,081,867	S83G	probably damaging	Het
Wdr91	T	A	6: 34,908,299	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,511,864	C148R	possibly damaging	Het

Other mutations in Pank4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Pank4	APN	4	154980602	missense	possibly damaging	0.50
IGL01105:Pank4	APN	4	154972465	splice site	probably benign
IGL01291:Pank4	APN	4	154974646	missense	probably damaging	0.98
IGL01935:Pank4	APN	4	154979530	missense	probably damaging	1.00
IGL02366:Pank4	APN	4	154969628	missense	probably benign	0.03
IGL02514:Pank4	APN	4	154970465	missense	probably damaging	0.99
IGL03028:Pank4	APN	4	154969985	unclassified	probably benign
IGL03033:Pank4	APN	4	154974715	missense	probably damaging	1.00
ANU05:Pank4	UTSW	4	154974646	missense	probably damaging	0.98
R0518:Pank4	UTSW	4	154976625	missense	possibly damaging	0.90
R1196:Pank4	UTSW	4	154978173	missense	probably damaging	0.99
R1566:Pank4	UTSW	4	154980521	missense	probably damaging	0.98
R1581:Pank4	UTSW	4	154974651	missense	probably damaging	1.00
R1709:Pank4	UTSW	4	154970047	missense	probably damaging	1.00
R1852:Pank4	UTSW	4	154976359	missense	probably damaging	1.00
R1950:Pank4	UTSW	4	154972520	missense	probably benign
R2943:Pank4	UTSW	4	154971474	missense	probably benign	0.01
R3911:Pank4	UTSW	4	154969601	missense	probably damaging	1.00
R4162:Pank4	UTSW	4	154979594	critical splice donor site	probably null
R4404:Pank4	UTSW	4	154980156	missense	probably benign	0.00
R4619:Pank4	UTSW	4	154976619	missense	probably benign	0.07
R4731:Pank4	UTSW	4	154971390	missense	probably benign	0.01
R4732:Pank4	UTSW	4	154971390	missense	probably benign	0.01
R4733:Pank4	UTSW	4	154971390	missense	probably benign	0.01
R4747:Pank4	UTSW	4	154979532	missense	probably damaging	1.00
R5218:Pank4	UTSW	4	154979728	missense	probably benign	0.01
R5278:Pank4	UTSW	4	154972165	missense	probably damaging	1.00
R5774:Pank4	UTSW	4	154980662	missense	probably damaging	1.00
R6004:Pank4	UTSW	4	154977221	missense	probably damaging	1.00
R6376:Pank4	UTSW	4	154972236	splice site	probably null
R7105:Pank4	UTSW	4	154980167	missense	probably benign	0.07
R7253:Pank4	UTSW	4	154970920	missense	probably benign	0.02
R7481:Pank4	UTSW	4	154970038	missense	probably damaging	1.00
R7565:Pank4	UTSW	4	154980550	missense	probably benign	0.08
R7718:Pank4	UTSW	4	154974643	missense	probably damaging	1.00
R7736:Pank4	UTSW	4	154969747	missense	probably benign	0.03
R8144:Pank4	UTSW	4	154970080	missense	probably benign	0.01
R8967:Pank4	UTSW	4	154970958	missense	probably benign	0.09
R9012:Pank4	UTSW	4	154978390	unclassified	probably benign
R9040:Pank4	UTSW	4	154980102	missense	probably benign	0.00
R9478:Pank4	UTSW	4	154980108	missense	probably benign
Z1177:Pank4	UTSW	4	154974745	missense	probably damaging	1.00
Z1177:Pank4	UTSW	4	154974784	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CCTGATCTGAAGCTTTCAAGTGTAG -3'
(R):5'- CAAGAGCAGCCCAGGTTTTG -3'

Sequencing Primer
(F):5'- CTGAAGCTTTCAAGTGTAGACACAC -3'
(R):5'- GACCACACGCTCTCCACTTG -3'

Posted On

2015-11-11