Mutagenetix > Incidental Mutation

Incidental Mutation 'R7481:Pank4'

579794

Institutional Source

Beutler Lab

Gene Symbol

Pank4

Ensembl Gene

ENSMUSG00000029056

Gene Name

pantothenate kinase 4

Synonyms

D030031I12Rik

MMRRC Submission

045555-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R7481 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155048580-155065395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155054495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 156 (N156S)

Ref Sequence

ENSEMBL: ENSMUSP00000064330 (fasta)

Gene Model

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

AlphaFold

Q80YV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030931
AA Change: N156S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030931
Gene: ENSMUSG00000029056
AA Change: N156S

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 damaging
Transcript: ENSMUST00000070953
AA Change: N156S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064330
Gene: ENSMUSG00000029056
AA Change: N156S

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

SMART Domains

Protein: ENSMUSP00000125663
Gene: ENSMUSG00000029056
AA Change: N13S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,494,575 (GRCm39)	F68S	unknown	Het
Abcb6	A	G	1: 75,150,248 (GRCm39)	F637L	probably damaging	Het
Aldh3b3	A	G	19: 4,014,549 (GRCm39)	M95V	probably benign	Het
Arhgap45	A	T	10: 79,858,134 (GRCm39)	H387L	possibly damaging	Het
Avil	C	T	10: 126,843,460 (GRCm39)	T130I	probably benign	Het
Bmal2	G	A	6: 146,720,369 (GRCm39)	A178T	not run	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C3	C	A	17: 57,527,136 (GRCm39)	W771L	probably damaging	Het
C6	A	G	15: 4,844,357 (GRCm39)	I926M		Het
Cacna1b	G	A	2: 24,506,874 (GRCm39)	L1903F	probably damaging	Het
Car3	A	T	3: 14,928,632 (GRCm39)	M1L	probably benign	Het
Ccdc175	A	G	12: 72,202,398 (GRCm39)	I299T	probably benign	Het
Chd9	C	T	8: 91,683,066 (GRCm39)	T502I	unknown	Het
Clec4a1	G	A	6: 122,904,998 (GRCm39)	C99Y	probably damaging	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dmbt1	A	T	7: 130,681,241 (GRCm39)		probably null	Het
Dop1a	A	T	9: 86,417,985 (GRCm39)	K1951N	probably damaging	Het
Dpf3	A	C	12: 83,378,701 (GRCm39)	L122R	probably damaging	Het
Edem3	A	T	1: 151,683,973 (GRCm39)	S687C	probably damaging	Het
Edem3	G	A	1: 151,683,974 (GRCm39)	S687N	possibly damaging	Het
Fig4	A	G	10: 41,106,001 (GRCm39)		probably null	Het
Fmnl2	A	G	2: 52,998,443 (GRCm39)	T603A	unknown	Het
Frmd6	T	A	12: 70,933,829 (GRCm39)	L249Q	probably damaging	Het
Glrx3	T	C	7: 137,046,751 (GRCm39)	C48R	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gm6133	A	T	18: 78,393,008 (GRCm39)	M1L	probably benign	Het
Gm9195	G	A	14: 72,720,116 (GRCm39)	T105I	probably benign	Het
Hk2	G	A	6: 82,737,150 (GRCm39)	T54I	probably benign	Het
Jade1	G	A	3: 41,559,125 (GRCm39)	G402D	probably benign	Het
Kmt2a	T	C	9: 44,720,368 (GRCm39)	D3873G	unknown	Het
Map6	A	T	7: 98,918,345 (GRCm39)	T373S	possibly damaging	Het
Megf9	T	C	4: 70,351,679 (GRCm39)	T481A	probably damaging	Het
Mtcl3	G	T	10: 29,072,519 (GRCm39)	V604L	probably damaging	Het
Mtus1	T	A	8: 41,537,652 (GRCm39)	K21N	probably damaging	Het
Muc5b	C	T	7: 141,414,908 (GRCm39)	T2618I	unknown	Het
Nbas	A	G	12: 13,406,960 (GRCm39)	I852M	probably damaging	Het
Or14j1	T	A	17: 38,146,289 (GRCm39)	M133K	probably damaging	Het
Or4a70	C	T	2: 89,324,636 (GRCm39)	V7I	probably benign	Het
Or5b121	A	T	19: 13,507,817 (GRCm39)	Q304L	probably damaging	Het
Or5d39	A	G	2: 87,980,105 (GRCm39)	I86T	probably benign	Het
Pcdhga8	A	G	18: 37,860,990 (GRCm39)	E682G	probably benign	Het
Pde10a	C	A	17: 9,168,262 (GRCm39)	D312E	possibly damaging	Het
Pkhd1l1	A	G	15: 44,376,307 (GRCm39)	T990A	probably benign	Het
Rab11fip1	T	C	8: 27,646,609 (GRCm39)	T156A	probably damaging	Het
Rhbdd2	T	A	5: 135,665,031 (GRCm39)	S121T	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,508,438 (GRCm39)	R3418S	probably benign	Het
Ryr3	C	A	2: 112,508,439 (GRCm39)	R3418M	possibly damaging	Het
Sbno2	G	A	10: 79,893,333 (GRCm39)	P1323S	probably benign	Het
Sec24d	T	C	3: 123,144,412 (GRCm39)	C630R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Skp2	A	T	15: 9,113,905 (GRCm39)	V371E	probably damaging	Het
Strbp	A	T	2: 37,490,766 (GRCm39)	S496R	probably benign	Het
Stxbp4	G	A	11: 90,485,639 (GRCm39)	T236I	possibly damaging	Het
Terf2	C	T	8: 107,799,353 (GRCm39)		probably null	Het
Thnsl1	A	T	2: 21,216,599 (GRCm39)	T118S	probably benign	Het
Tlnrd1	A	T	7: 83,531,546 (GRCm39)	V295E	probably damaging	Het
Ttll6	A	G	11: 96,045,672 (GRCm39)	T630A	probably benign	Het
Usp9y	G	T	Y: 1,432,180 (GRCm39)	A435E	probably benign	Het
Vil1	A	C	1: 74,459,058 (GRCm39)	R187S	probably damaging	Het
Vmn2r31	A	T	7: 7,387,579 (GRCm39)	V664E	possibly damaging	Het
Wdr17	T	C	8: 55,114,371 (GRCm39)	I693M	probably benign	Het
Wdr82	C	T	9: 106,053,865 (GRCm39)	T72I	probably damaging	Het
Zbtb5	A	G	4: 44,994,905 (GRCm39)	S160P	probably benign	Het
Zfat	G	A	15: 68,050,715 (GRCm39)	Q769*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp937	T	A	2: 150,081,266 (GRCm39)	I432K	probably benign	Het
Zglp1	C	T	9: 20,973,903 (GRCm39)	S261N	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
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'- GAGAAGCTGCGTCTGAAGTG -3'
(R):5'- ACATTCAGCTGTCATTTTGTGG -3'

Sequencing Primer
(F):5'- GGCCCTGAACTTCTGTGCTG -3'
(R):5'- GGACTCTTACCTTCACGATGGAGAC -3'

Posted On

2019-10-07