Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03391:Parp14'

421057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parp14

Ensembl Gene

ENSMUSG00000034422

Gene Name

poly (ADP-ribose) polymerase family, member 14

Synonyms

CoaSt6, collaborator of Stat6, 1600029O10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.493) question?

Stock #

IGL03391

Quality Score

Status

Chromosome

Chromosomal Location

35653244-35691914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35678640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 443 (M443V)

Ref Sequence

ENSEMBL: ENSMUSP00000037657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042665]

AlphaFold

Q2EMV9

PDB Structure

Solution structure of WWE domain in Parp14 protein [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000042665
AA Change: M443V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037657
Gene: ENSMUSG00000034422
AA Change: M443V

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
low complexity region	93	115	N/A	INTRINSIC
RRM	228	297	4.71e-2	SMART
coiled coil region	443	468	N/A	INTRINSIC
Blast:A1pp	693	746	6e-6	BLAST
low complexity region	771	795	N/A	INTRINSIC
A1pp	814	948	7.62e-41	SMART
A1pp	1026	1160	5.88e-24	SMART
A1pp	1239	1358	6.82e-20	SMART
PDB:1X4R\|A	1532	1619	9e-53	PDB
Pfam:PARP	1632	1817	2.5e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142946

Coding Region Coverage

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 poly(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit altered B cell subsets and inability to respond to the apoptosis protective affects of IL4. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,107 (GRCm39)	D586G	probably damaging	Het
Acadvl	A	C	11: 69,901,542 (GRCm39)	M557R	probably damaging	Het
Ano2	T	A	6: 125,784,802 (GRCm39)	N327K	probably damaging	Het
Cdh11	A	T	8: 103,400,655 (GRCm39)	D104E	possibly damaging	Het
Chrnb2	A	G	3: 89,668,184 (GRCm39)	F377S	probably damaging	Het
Cngb1	T	C	8: 96,030,333 (GRCm39)		probably benign	Het
Dnaaf1	C	T	8: 120,309,355 (GRCm39)	R148C	probably damaging	Het
Esrrg	A	T	1: 187,882,420 (GRCm39)	I226F	possibly damaging	Het
Evl	C	A	12: 108,642,358 (GRCm39)		probably null	Het
Gpam	T	C	19: 55,070,128 (GRCm39)	E376G	probably damaging	Het
Gzf1	C	A	2: 148,525,603 (GRCm39)	R25S	probably damaging	Het
Ighv5-2	A	T	12: 113,542,138 (GRCm39)	Y113*	probably null	Het
Izumo4	A	G	10: 80,540,947 (GRCm39)	T216A	probably damaging	Het
Lrp1b	T	G	2: 41,185,653 (GRCm39)	Y1354S	possibly damaging	Het
Mark1	A	G	1: 184,651,632 (GRCm39)		probably benign	Het
Mylpf	A	G	7: 126,812,349 (GRCm39)	I17V	probably benign	Het
Myo18b	C	A	5: 113,022,345 (GRCm39)		probably benign	Het
Nbas	C	T	12: 13,533,750 (GRCm39)	A1795V	probably benign	Het
Oprm1	A	C	10: 6,964,077 (GRCm39)		probably benign	Het
Or2ag15	A	T	7: 106,340,962 (GRCm39)	Y60N	probably damaging	Het
Or5b122	A	G	19: 13,563,483 (GRCm39)	M272V	probably benign	Het
Or5w1	A	G	2: 87,487,032 (GRCm39)	S78P	possibly damaging	Het
Psca	T	C	15: 74,586,717 (GRCm39)	F5S	probably benign	Het
Ptbp2	A	T	3: 119,514,031 (GRCm39)	Y514*	probably null	Het
Scg3	A	G	9: 75,568,533 (GRCm39)		probably null	Het
Scn2a	T	C	2: 65,594,557 (GRCm39)	V1802A	probably damaging	Het
Serpinb3a	A	G	1: 106,974,072 (GRCm39)	S280P	possibly damaging	Het
Slc39a14	T	C	14: 70,547,291 (GRCm39)	I352V	probably damaging	Het
Slc6a2	G	T	8: 93,688,080 (GRCm39)	V69L	probably damaging	Het
Slc8a1	A	G	17: 81,740,067 (GRCm39)		probably benign	Het
Tjp1	T	C	7: 64,964,717 (GRCm39)	D818G	probably damaging	Het
Tnfaip8	T	C	18: 50,223,552 (GRCm39)	V120A	probably damaging	Het
Trmt5	G	A	12: 73,328,226 (GRCm39)	H326Y	probably benign	Het
Vmn1r222	T	C	13: 23,416,632 (GRCm39)	M194V	possibly damaging	Het
Zbtb17	A	G	4: 141,194,069 (GRCm39)	E699G	probably damaging	Het

Other mutations in Parp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Parp14	APN	16	35,661,445 (GRCm39)	missense	probably benign	0.00
IGL00497:Parp14	APN	16	35,655,206 (GRCm39)	missense	probably damaging	1.00
IGL00754:Parp14	APN	16	35,659,741 (GRCm39)	missense	probably benign	0.15
IGL00960:Parp14	APN	16	35,661,589 (GRCm39)	missense	probably benign	0.20
IGL01321:Parp14	APN	16	35,676,929 (GRCm39)	missense	probably benign
IGL01397:Parp14	APN	16	35,679,098 (GRCm39)	missense	probably benign	0.19
IGL01591:Parp14	APN	16	35,678,877 (GRCm39)	missense	possibly damaging	0.71
IGL01728:Parp14	APN	16	35,677,805 (GRCm39)	missense	probably damaging	1.00
IGL01734:Parp14	APN	16	35,678,970 (GRCm39)	missense	probably benign	0.00
IGL02156:Parp14	APN	16	35,678,967 (GRCm39)	missense	probably benign	0.13
IGL02951:Parp14	APN	16	35,678,903 (GRCm39)	missense	probably benign	0.06
IGL03067:Parp14	APN	16	35,676,878 (GRCm39)	missense	probably benign	0.10
IGL03135:Parp14	APN	16	35,678,381 (GRCm39)	missense	probably damaging	1.00
IGL03141:Parp14	APN	16	35,659,663 (GRCm39)	missense	probably benign	0.00
IGL03146:Parp14	APN	16	35,678,823 (GRCm39)	nonsense	probably null
IGL03333:Parp14	APN	16	35,661,800 (GRCm39)	missense	probably benign	0.08
thurston	UTSW	16	35,664,785 (GRCm39)	splice site	probably benign
PIT4585001:Parp14	UTSW	16	35,678,975 (GRCm39)	missense	probably benign	0.03
R0306:Parp14	UTSW	16	35,676,944 (GRCm39)	missense	probably benign
R0506:Parp14	UTSW	16	35,661,779 (GRCm39)	missense	possibly damaging	0.70
R0586:Parp14	UTSW	16	35,661,382 (GRCm39)	missense	probably benign	0.00
R0606:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R0612:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R0699:Parp14	UTSW	16	35,680,955 (GRCm39)	missense	probably damaging	1.00
R0786:Parp14	UTSW	16	35,661,172 (GRCm39)	missense	possibly damaging	0.86
R0883:Parp14	UTSW	16	35,678,888 (GRCm39)	missense	probably benign	0.03
R0900:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1087:Parp14	UTSW	16	35,678,658 (GRCm39)	missense	probably damaging	1.00
R1104:Parp14	UTSW	16	35,664,785 (GRCm39)	splice site	probably benign
R1120:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1134:Parp14	UTSW	16	35,655,272 (GRCm39)	missense	probably damaging	1.00
R1153:Parp14	UTSW	16	35,678,041 (GRCm39)	missense	possibly damaging	0.49
R1159:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1160:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1237:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1238:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1239:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1423:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1511:Parp14	UTSW	16	35,677,594 (GRCm39)	missense	probably benign	0.00
R1518:Parp14	UTSW	16	35,677,008 (GRCm39)	missense	possibly damaging	0.79
R1619:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1707:Parp14	UTSW	16	35,678,219 (GRCm39)	missense	probably damaging	1.00
R1792:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1831:Parp14	UTSW	16	35,678,958 (GRCm39)	missense	possibly damaging	0.77
R1840:Parp14	UTSW	16	35,683,819 (GRCm39)	missense	probably damaging	1.00
R1889:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1902:Parp14	UTSW	16	35,673,888 (GRCm39)	critical splice donor site	probably null
R1943:Parp14	UTSW	16	35,656,499 (GRCm39)	missense	probably damaging	1.00
R1954:Parp14	UTSW	16	35,678,671 (GRCm39)	missense	probably benign	0.08
R2115:Parp14	UTSW	16	35,678,904 (GRCm39)	missense	probably benign	0.16
R2216:Parp14	UTSW	16	35,677,575 (GRCm39)	missense	probably benign	0.00
R2519:Parp14	UTSW	16	35,678,573 (GRCm39)	missense	possibly damaging	0.95
R3851:Parp14	UTSW	16	35,674,118 (GRCm39)	missense	possibly damaging	0.92
R4052:Parp14	UTSW	16	35,678,771 (GRCm39)	missense	probably benign	0.05
R4671:Parp14	UTSW	16	35,678,691 (GRCm39)	missense	probably benign	0.00
R4867:Parp14	UTSW	16	35,677,697 (GRCm39)	missense	probably benign	0.01
R4941:Parp14	UTSW	16	35,666,403 (GRCm39)	missense	probably benign
R4992:Parp14	UTSW	16	35,661,512 (GRCm39)	missense	probably benign	0.05
R5055:Parp14	UTSW	16	35,664,733 (GRCm39)	missense	probably benign	0.00
R5073:Parp14	UTSW	16	35,655,077 (GRCm39)	missense	probably damaging	0.99
R5170:Parp14	UTSW	16	35,677,649 (GRCm39)	missense	probably benign	0.21
R5422:Parp14	UTSW	16	35,686,545 (GRCm39)	missense	probably benign	0.01
R5543:Parp14	UTSW	16	35,655,137 (GRCm39)	missense	probably benign	0.00
R5549:Parp14	UTSW	16	35,661,505 (GRCm39)	missense	probably benign	0.00
R5553:Parp14	UTSW	16	35,677,306 (GRCm39)	missense	probably benign	0.01
R5691:Parp14	UTSW	16	35,683,909 (GRCm39)	missense	probably benign	0.12
R5774:Parp14	UTSW	16	35,678,780 (GRCm39)	missense	probably damaging	1.00
R5855:Parp14	UTSW	16	35,661,297 (GRCm39)	nonsense	probably null
R5942:Parp14	UTSW	16	35,659,737 (GRCm39)	missense	probably damaging	0.98
R5990:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R5991:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R6018:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R6022:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R6075:Parp14	UTSW	16	35,677,389 (GRCm39)	missense	probably damaging	0.99
R6395:Parp14	UTSW	16	35,676,918 (GRCm39)	missense	probably benign	0.00
R6525:Parp14	UTSW	16	35,680,811 (GRCm39)	missense	probably benign	0.05
R6683:Parp14	UTSW	16	35,655,047 (GRCm39)	missense	probably damaging	1.00
R7525:Parp14	UTSW	16	35,677,861 (GRCm39)	missense	probably benign	0.00
R8011:Parp14	UTSW	16	35,677,004 (GRCm39)	missense	probably benign	0.00
R8192:Parp14	UTSW	16	35,691,584 (GRCm39)	missense	probably benign	0.01
R8367:Parp14	UTSW	16	35,678,124 (GRCm39)	missense	probably benign	0.36
R8526:Parp14	UTSW	16	35,661,307 (GRCm39)	missense	possibly damaging	0.87
R8751:Parp14	UTSW	16	35,677,181 (GRCm39)	missense	probably benign	0.32
R8962:Parp14	UTSW	16	35,677,187 (GRCm39)	missense	probably damaging	1.00
R9231:Parp14	UTSW	16	35,661,583 (GRCm39)	missense	probably damaging	0.98
R9363:Parp14	UTSW	16	35,678,586 (GRCm39)	missense	possibly damaging	0.90
R9366:Parp14	UTSW	16	35,659,630 (GRCm39)	critical splice donor site	probably null
R9379:Parp14	UTSW	16	35,680,853 (GRCm39)	missense	probably benign	0.08
R9562:Parp14	UTSW	16	35,677,775 (GRCm39)	missense	probably benign	0.16
R9565:Parp14	UTSW	16	35,677,775 (GRCm39)	missense	probably benign	0.16
R9696:Parp14	UTSW	16	35,661,252 (GRCm39)	missense	probably damaging	0.96
R9696:Parp14	UTSW	16	35,661,251 (GRCm39)	missense	possibly damaging	0.67
X0026:Parp14	UTSW	16	35,677,527 (GRCm39)	nonsense	probably null
X0060:Parp14	UTSW	16	35,655,077 (GRCm39)	missense	probably damaging	0.99
Z1088:Parp14	UTSW	16	35,661,956 (GRCm39)	missense	probably damaging	1.00
Z1177:Parp14	UTSW	16	35,665,708 (GRCm39)	missense	probably damaging	1.00
Z1177:Parp14	UTSW	16	35,691,573 (GRCm39)	missense	probably benign	0.16

Posted On

2016-08-02