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: 0.169) question?

Stock #

R4760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155048580-155065395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155059091 bp (GRCm39)

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
A530053G22Rik	A	G	6: 60,379,086 (GRCm39)		noncoding transcript	Het
Abcc2	A	T	19: 43,798,920 (GRCm39)	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,443,312 (GRCm39)	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,633,748 (GRCm39)	Y332C	probably damaging	Het
Ambn	C	T	5: 88,615,566 (GRCm39)	L317F	probably damaging	Het
Amn1	T	C	6: 149,086,611 (GRCm39)	Y17C	probably benign	Het
Apoa5	T	C	9: 46,181,593 (GRCm39)	V223A	probably damaging	Het
Best3	A	T	10: 116,860,699 (GRCm39)	H653L	probably benign	Het
Btnl2	C	A	17: 34,582,169 (GRCm39)	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,366,867 (GRCm39)	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,405,060 (GRCm39)	D698V	probably damaging	Het
Cd33	T	C	7: 43,178,919 (GRCm39)	T307A	probably benign	Het
Cdk8	C	T	5: 146,229,476 (GRCm39)	S230L	probably benign	Het
Cfap69	C	T	5: 5,696,939 (GRCm39)	C119Y	probably damaging	Het
Chat	T	C	14: 32,175,694 (GRCm39)	N122S	probably benign	Het
Col20a1	A	T	2: 180,626,196 (GRCm39)		probably benign	Het
Cyp2j9	A	T	4: 96,457,028 (GRCm39)	L481Q	probably damaging	Het
Dab1	A	C	4: 104,589,342 (GRCm39)	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,823,380 (GRCm39)	Q533P	probably damaging	Het
Eif4g3	A	T	4: 137,811,629 (GRCm39)	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,520,087 (GRCm39)	V438M	probably damaging	Het
Eva1c	G	A	16: 90,701,138 (GRCm39)	D258N	probably benign	Het
Fastkd2	A	G	1: 63,785,045 (GRCm39)	H477R	probably benign	Het
Fga	T	G	3: 82,938,821 (GRCm39)	S399A	probably benign	Het
Fmo4	T	A	1: 162,637,396 (GRCm39)	E32V	probably damaging	Het
Gm7204	T	A	16: 48,039,051 (GRCm39)		noncoding transcript	Het
Gpi-ps	G	A	8: 5,690,473 (GRCm39)		noncoding transcript	Het
Hhipl1	A	G	12: 108,286,336 (GRCm39)	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,676,349 (GRCm39)	T63A	probably benign	Het
Igf2r	A	G	17: 12,922,352 (GRCm39)	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 114,987,667 (GRCm39)	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,768,446 (GRCm39)	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Ipo5	T	C	14: 121,179,054 (GRCm39)	V779A	probably benign	Het
Itpr1	C	T	6: 108,326,593 (GRCm39)	T105I	probably benign	Het
Kalrn	T	C	16: 34,018,857 (GRCm39)	M670V	probably damaging	Het
Kdm8	T	A	7: 125,054,431 (GRCm39)		probably null	Het
Kics2	T	C	10: 121,575,912 (GRCm39)	V11A	probably damaging	Het
L3hypdh	T	C	12: 72,124,016 (GRCm39)	I281V	probably benign	Het
Lins1	T	G	7: 66,364,435 (GRCm39)		probably benign	Het
Map4k5	T	A	12: 69,871,372 (GRCm39)	I517L	possibly damaging	Het
Marchf2	G	T	17: 33,928,890 (GRCm39)	T2K	probably damaging	Het
Mlkl	C	G	8: 112,046,348 (GRCm39)		probably null	Het
Mllt1	A	G	17: 57,209,630 (GRCm39)	M160T	probably benign	Het
Mmp15	G	A	8: 96,094,824 (GRCm39)	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,868,537 (GRCm39)	T23N	probably benign	Het
Nop53	C	A	7: 15,676,812 (GRCm39)	K100N	probably benign	Het
Nrg1	C	A	8: 32,408,228 (GRCm39)	E2*	probably null	Het
Or52u1	T	A	7: 104,237,696 (GRCm39)	H228Q	probably benign	Het
Pcdhb10	T	C	18: 37,544,995 (GRCm39)	W24R	probably benign	Het
Pcm1	C	T	8: 41,740,775 (GRCm39)	T968I	probably damaging	Het
Pkib	G	T	10: 57,584,246 (GRCm39)	M19I	probably benign	Het
Ppy	A	G	11: 101,991,345 (GRCm39)		probably null	Het
Pramel21	G	A	4: 143,343,801 (GRCm39)	R367K	probably benign	Het
Prdx3	A	C	19: 60,861,621 (GRCm39)	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,276,073 (GRCm39)	N106H	probably benign	Het
Rai14	G	A	15: 10,575,776 (GRCm39)	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,188,669 (GRCm39)	L1371Q	probably benign	Het
Rbm12	A	G	2: 155,939,048 (GRCm39)	L408P	probably damaging	Het
Rdx	T	C	9: 51,977,174 (GRCm39)	I141T	probably benign	Het
Reep1	T	A	6: 71,684,985 (GRCm39)	V11E	possibly damaging	Het
Relch	T	A	1: 105,649,030 (GRCm39)	M723K	probably benign	Het
Sall4	A	G	2: 168,592,347 (GRCm39)	S936P	probably damaging	Het
Serac1	A	G	17: 6,102,065 (GRCm39)	M403T	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,435,549 (GRCm39)	I41L	probably benign	Het
Slc39a12	G	A	2: 14,405,134 (GRCm39)	S242N	probably benign	Het
Slc9a2	T	A	1: 40,801,076 (GRCm39)	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,849,459 (GRCm39)	P890T	probably damaging	Het
Sync	A	G	4: 129,187,232 (GRCm39)	Q88R	probably benign	Het
Tdrp	A	G	8: 14,024,527 (GRCm39)		probably benign	Het
Tg	G	T	15: 66,565,168 (GRCm39)	C1170F	probably damaging	Het
Tnks	A	T	8: 35,318,937 (GRCm39)	D781E	probably benign	Het
Tnp2	T	A	16: 10,606,207 (GRCm39)	T87S	possibly damaging	Het
Tpp2	T	C	1: 44,010,875 (GRCm39)	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,521,735 (GRCm39)	I431T	probably damaging	Het
Trav9d-4	A	T	14: 53,221,258 (GRCm39)	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,187,276 (GRCm39)	Y782F	probably damaging	Het
Vwf	T	C	6: 125,547,567 (GRCm39)	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,808,496 (GRCm39)	S83G	probably damaging	Het
Wdr91	T	A	6: 34,885,234 (GRCm39)	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,818,864 (GRCm39)	C148R	possibly damaging	Het

Other mutations in Pank4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Pank4	APN	4	155,065,059 (GRCm39)	missense	possibly damaging	0.50
IGL01105:Pank4	APN	4	155,056,922 (GRCm39)	splice site	probably benign
IGL01291:Pank4	APN	4	155,059,103 (GRCm39)	missense	probably damaging	0.98
IGL01935:Pank4	APN	4	155,063,987 (GRCm39)	missense	probably damaging	1.00
IGL02366:Pank4	APN	4	155,054,085 (GRCm39)	missense	probably benign	0.03
IGL02514:Pank4	APN	4	155,054,922 (GRCm39)	missense	probably damaging	0.99
IGL03028:Pank4	APN	4	155,054,442 (GRCm39)	unclassified	probably benign
IGL03033:Pank4	APN	4	155,059,172 (GRCm39)	missense	probably damaging	1.00
ANU05:Pank4	UTSW	4	155,059,103 (GRCm39)	missense	probably damaging	0.98
R0518:Pank4	UTSW	4	155,061,082 (GRCm39)	missense	possibly damaging	0.90
R1196:Pank4	UTSW	4	155,062,630 (GRCm39)	missense	probably damaging	0.99
R1566:Pank4	UTSW	4	155,064,978 (GRCm39)	missense	probably damaging	0.98
R1581:Pank4	UTSW	4	155,059,108 (GRCm39)	missense	probably damaging	1.00
R1709:Pank4	UTSW	4	155,054,504 (GRCm39)	missense	probably damaging	1.00
R1852:Pank4	UTSW	4	155,060,816 (GRCm39)	missense	probably damaging	1.00
R1950:Pank4	UTSW	4	155,056,977 (GRCm39)	missense	probably benign
R2943:Pank4	UTSW	4	155,055,931 (GRCm39)	missense	probably benign	0.01
R3911:Pank4	UTSW	4	155,054,058 (GRCm39)	missense	probably damaging	1.00
R4162:Pank4	UTSW	4	155,064,051 (GRCm39)	critical splice donor site	probably null
R4404:Pank4	UTSW	4	155,064,613 (GRCm39)	missense	probably benign	0.00
R4619:Pank4	UTSW	4	155,061,076 (GRCm39)	missense	probably benign	0.07
R4731:Pank4	UTSW	4	155,055,847 (GRCm39)	missense	probably benign	0.01
R4732:Pank4	UTSW	4	155,055,847 (GRCm39)	missense	probably benign	0.01
R4733:Pank4	UTSW	4	155,055,847 (GRCm39)	missense	probably benign	0.01
R4747:Pank4	UTSW	4	155,063,989 (GRCm39)	missense	probably damaging	1.00
R5218:Pank4	UTSW	4	155,064,185 (GRCm39)	missense	probably benign	0.01
R5278:Pank4	UTSW	4	155,056,622 (GRCm39)	missense	probably damaging	1.00
R5774:Pank4	UTSW	4	155,065,119 (GRCm39)	missense	probably damaging	1.00
R6004:Pank4	UTSW	4	155,061,678 (GRCm39)	missense	probably damaging	1.00
R6376:Pank4	UTSW	4	155,056,693 (GRCm39)	splice site	probably null
R7105:Pank4	UTSW	4	155,064,624 (GRCm39)	missense	probably benign	0.07
R7253:Pank4	UTSW	4	155,055,377 (GRCm39)	missense	probably benign	0.02
R7481:Pank4	UTSW	4	155,054,495 (GRCm39)	missense	probably damaging	1.00
R7565:Pank4	UTSW	4	155,065,007 (GRCm39)	missense	probably benign	0.08
R7718:Pank4	UTSW	4	155,059,100 (GRCm39)	missense	probably damaging	1.00
R7736:Pank4	UTSW	4	155,054,204 (GRCm39)	missense	probably benign	0.03
R8144:Pank4	UTSW	4	155,054,537 (GRCm39)	missense	probably benign	0.01
R8967:Pank4	UTSW	4	155,055,415 (GRCm39)	missense	probably benign	0.09
R9012:Pank4	UTSW	4	155,062,847 (GRCm39)	unclassified	probably benign
R9040:Pank4	UTSW	4	155,064,559 (GRCm39)	missense	probably benign	0.00
R9478:Pank4	UTSW	4	155,064,565 (GRCm39)	missense	probably benign
Z1177:Pank4	UTSW	4	155,059,241 (GRCm39)	missense	possibly damaging	0.90
Z1177:Pank4	UTSW	4	155,059,202 (GRCm39)	missense	probably damaging	1.00

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