Mutagenetix > Incidental Mutation

Incidental Mutation 'R7565:Pank4'

585367

Institutional Source

Beutler Lab

Gene Symbol

Pank4

Ensembl Gene

ENSMUSG00000029056

Gene Name

pantothenate kinase 4

Synonyms

D030031I12Rik

MMRRC Submission

045710-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R7565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155048580-155065395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155065007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 769 (V769I)

Ref Sequence

ENSEMBL: ENSMUSP00000064330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030931] [ENSMUST00000070953] [ENSMUST00000105631] [ENSMUST00000135665] [ENSMUST00000139976] [ENSMUST00000176194]

AlphaFold

Q80YV4

Predicted Effect

probably benign
Transcript: ENSMUST00000030931
AA Change: V722I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000030931
Gene: ENSMUSG00000029056
AA Change: V722I

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

probably benign
Transcript: ENSMUST00000070953
AA Change: V769I

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000064330
Gene: ENSMUSG00000029056
AA Change: V769I

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

probably benign
Transcript: ENSMUST00000105631

SMART Domains

Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055

Domain	Start	End	E-Value	Type
low complexity region	28	45	N/A	INTRINSIC
low complexity region	96	107	N/A	INTRINSIC
PH	122	231	1.8e-6	SMART
EFh	247	275	7.29e-4	SMART
EFh	283	312	4.67e-2	SMART
Pfam:EF-hand_like	317	399	1.7e-26	PFAM
PLCXc	400	545	6.76e-76	SMART
low complexity region	559	572	N/A	INTRINSIC
low complexity region	659	676	N/A	INTRINSIC
PLCYc	707	821	1.25e-56	SMART
C2	840	948	1.66e-21	SMART
low complexity region	1088	1107	N/A	INTRINSIC
low complexity region	1227	1236	N/A	INTRINSIC
low complexity region	1356	1369	N/A	INTRINSIC
low complexity region	1421	1451	N/A	INTRINSIC
low complexity region	1454	1466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124517

SMART Domains

Protein: ENSMUSP00000122139
Gene: ENSMUSG00000029055

Domain	Start	End	E-Value	Type
C2	1	77	1.58e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135665

SMART Domains

Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055

Domain	Start	End	E-Value	Type
PH	17	126	1.8e-6	SMART
EFh	142	170	7.29e-4	SMART
EFh	178	207	4.67e-2	SMART
Pfam:EF-hand_like	212	294	2.8e-25	PFAM
PLCXc	295	440	6.76e-76	SMART
low complexity region	454	467	N/A	INTRINSIC
low complexity region	554	571	N/A	INTRINSIC
PLCYc	602	716	1.25e-56	SMART
C2	735	843	1.66e-21	SMART
low complexity region	983	1002	N/A	INTRINSIC
low complexity region	1122	1131	N/A	INTRINSIC
low complexity region	1251	1264	N/A	INTRINSIC
low complexity region	1316	1346	N/A	INTRINSIC
low complexity region	1349	1361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139976

SMART Domains

Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055

Domain	Start	End	E-Value	Type
low complexity region	28	45	N/A	INTRINSIC
low complexity region	96	107	N/A	INTRINSIC
PH	122	231	1.8e-6	SMART
EFh	247	275	7.29e-4	SMART
EFh	283	312	4.67e-2	SMART
Pfam:EF-hand_like	317	399	3.2e-27	PFAM
PLCXc	400	545	6.76e-76	SMART
low complexity region	559	572	N/A	INTRINSIC
low complexity region	659	676	N/A	INTRINSIC
PLCYc	707	821	1.25e-56	SMART
C2	840	948	1.66e-21	SMART
low complexity region	1087	1100	N/A	INTRINSIC
low complexity region	1166	1194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148934

SMART Domains

Protein: ENSMUSP00000125663
Gene: ENSMUSG00000029056

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175982

Predicted Effect

probably benign
Transcript: ENSMUST00000176194

SMART Domains

Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055

Domain	Start	End	E-Value	Type
PH	21	130	1.8e-6	SMART
EFh	146	174	7.29e-4	SMART
EFh	182	211	4.67e-2	SMART
Pfam:EF-hand_like	216	298	1.6e-25	PFAM
PLCXc	299	444	6.76e-76	SMART
low complexity region	458	471	N/A	INTRINSIC
low complexity region	558	575	N/A	INTRINSIC
PLCYc	606	720	1.25e-56	SMART
C2	739	847	1.66e-21	SMART
low complexity region	986	999	N/A	INTRINSIC
low complexity region	1065	1093	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,452,750 (GRCm39)	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,836,596 (GRCm39)	I421N	probably benign	Het
Ahnak	A	G	19: 8,993,520 (GRCm39)	I4935V	probably benign	Het
Atg12	A	C	18: 46,867,551 (GRCm39)	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bcl3	C	T	7: 19,546,419 (GRCm39)	V139I	probably damaging	Het
Bloc1s4	T	A	5: 36,905,689 (GRCm39)	M101L	probably benign	Het
Bmp6	C	T	13: 38,530,233 (GRCm39)	Q109*	probably null	Het
Cabyr	C	T	18: 12,877,656 (GRCm39)	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,932,538 (GRCm39)	S22P	probably benign	Het
Catsperg2	A	T	7: 29,412,406 (GRCm39)	C395S	probably null	Het
Cd101	T	C	3: 100,926,108 (GRCm39)	T208A	probably benign	Het
Chaf1a	A	G	17: 56,371,148 (GRCm39)	S678G	probably benign	Het
Chrna2	A	C	14: 66,388,484 (GRCm39)	I500L	probably benign	Het
Cln6	C	T	9: 62,758,039 (GRCm39)	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,659,963 (GRCm39)	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah10	A	G	5: 124,876,095 (GRCm39)	N2645D	probably damaging	Het
Dph5	T	A	3: 115,686,446 (GRCm39)	V74D	probably benign	Het
Dthd1	A	T	5: 63,000,435 (GRCm39)	I586L	probably damaging	Het
Elane	G	A	10: 79,722,879 (GRCm39)	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,587,398 (GRCm39)	T453A	probably damaging	Het
Fpr3	C	A	17: 18,191,227 (GRCm39)	T166K	probably damaging	Het
Fryl	A	G	5: 73,191,063 (GRCm39)	I2724T	probably benign	Het
Fsip2	C	T	2: 82,779,856 (GRCm39)	R201C	probably damaging	Het
Gm14496	A	G	2: 181,642,630 (GRCm39)	N767S	probably damaging	Het
Gm14496	T	A	2: 181,633,050 (GRCm39)	F11Y	possibly damaging	Het
Hyal4	T	A	6: 24,765,933 (GRCm39)	M429K	possibly damaging	Het
Itgad	A	T	7: 127,782,187 (GRCm39)	T208S	probably damaging	Het
Itpr3	T	G	17: 27,329,862 (GRCm39)	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,186 (GRCm39)	C292Y	probably damaging	Het
Kdr	T	C	5: 76,109,503 (GRCm39)	K958R	probably damaging	Het
Klhl22	T	A	16: 17,607,148 (GRCm39)	W485R	probably damaging	Het
Ldhb	T	A	6: 142,438,245 (GRCm39)	I271F	possibly damaging	Het
Lmo7	A	G	14: 102,122,737 (GRCm39)	R309G	probably damaging	Het
Marco	C	A	1: 120,402,395 (GRCm39)	C517F	probably damaging	Het
Mpdz	G	A	4: 81,221,891 (GRCm39)	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,218,600 (GRCm39)	S1410G	probably benign	Het
Ncor1	T	C	11: 62,292,091 (GRCm39)	N283S	probably damaging	Het
Nlrp14	T	A	7: 106,781,094 (GRCm39)	L97*	probably null	Het
Olfm3	T	G	3: 114,916,393 (GRCm39)	S442A	probably damaging	Het
Or10p1	A	G	10: 129,444,029 (GRCm39)	V107A	possibly damaging	Het
Or14j10	T	C	17: 37,935,392 (GRCm39)	I45V	probably damaging	Het
Or2ag12	T	C	7: 106,277,333 (GRCm39)	Y120C	probably damaging	Het
Or5a1	T	A	19: 12,097,375 (GRCm39)	S234C	probably benign	Het
Or5an10	T	C	19: 12,276,212 (GRCm39)	T95A	probably benign	Het
Pdgfrb	G	A	18: 61,216,336 (GRCm39)	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,104,501 (GRCm39)	S911N	probably benign	Het
Prdx6b	A	G	2: 80,123,334 (GRCm39)	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,432,870 (GRCm39)	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,078,987 (GRCm39)	D9G		Het
Rpl13a	C	T	7: 44,776,466 (GRCm39)	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,582,342 (GRCm39)	I177F	probably damaging	Het
Rttn	C	A	18: 89,078,603 (GRCm39)	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,575,539 (GRCm39)	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,938,891 (GRCm39)	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,305,813 (GRCm39)	V277M	probably damaging	Het
Spata13	A	T	14: 60,989,298 (GRCm39)	Y988F	probably damaging	Het
Spata31e2	A	T	1: 26,724,351 (GRCm39)	N276K	probably benign	Het
Spo11	A	G	2: 172,833,864 (GRCm39)	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,422,998 (GRCm39)	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,744,029 (GRCm39)	W659*	probably null	Het
Thnsl2	T	C	6: 71,118,311 (GRCm39)	D39G	probably benign	Het
Thumpd1	A	T	7: 119,316,085 (GRCm39)	L288*	probably null	Het
Tram1l1	T	C	3: 124,115,556 (GRCm39)	Y239H	probably damaging	Het
Usp38	T	A	8: 81,708,601 (GRCm39)	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790 (GRCm39)	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,320,830 (GRCm39)	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,214,499 (GRCm39)	I218V	probably benign	Het
Xpr1	T	C	1: 155,183,488 (GRCm39)	I461V	probably benign	Het
Ydjc	T	C	16: 16,964,869 (GRCm39)	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,050,232 (GRCm39)	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,455,426 (GRCm39)	L1140P	probably benign	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
R4760:Pank4	UTSW	4	155,059,091 (GRCm39)	missense	possibly damaging	0.60
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
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'- ATGCCTCAGTTAGCAAGGGG -3'
(R):5'- TCCTGATGAGGGATATGCAGAC -3'

Sequencing Primer
(F):5'- GTGCTGGGGAAAGGTCC -3'
(R):5'- CACGTCTGGCAGAGTGGGTATC -3'

Posted On

2019-10-17