Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03201:Parp11'

412994

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parp11

Ensembl Gene

ENSMUSG00000037997

Gene Name

poly (ADP-ribose) polymerase family, member 11

Synonyms

5330431N24Rik, HIN1L

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03201

Quality Score

Status

Chromosome

Chromosomal Location

127423803-127471224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127466981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 124 (I124T)

Ref Sequence

ENSEMBL: ENSMUSP00000107810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039680] [ENSMUST00000112191]

AlphaFold

Q8CFF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039680
AA Change: I207T

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036127
Gene: ENSMUSG00000037997
AA Change: I207T

Domain	Start	End	E-Value	Type
Pfam:WWE	25	99	1.4e-18	PFAM
Pfam:PARP	129	331	4.1e-51	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112191
AA Change: I124T

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107810
Gene: ENSMUSG00000037997
AA Change: I124T

Domain	Start	End	E-Value	Type
Pfam:PARP	46	248	4e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202455

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired male fertility and teratozoospermia associated with sperm head malformations and nuclear envelope defects during the nuclear reshaping process of spermatid elongation and condensation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,468 (GRCm39)	E105G	probably damaging	Het
Apc	A	G	18: 34,445,429 (GRCm39)	D757G	probably damaging	Het
Arpc3	A	T	5: 122,539,781 (GRCm39)	I45F	probably damaging	Het
C3	C	A	17: 57,529,249 (GRCm39)	V597L	probably damaging	Het
Ccdc181	A	G	1: 164,108,213 (GRCm39)	N299D	probably benign	Het
Cdr1	T	A	X: 60,229,154 (GRCm39)	Q4L	unknown	Het
Cep170	G	A	1: 176,564,454 (GRCm39)	S1464F	probably damaging	Het
Cfh	A	G	1: 140,030,557 (GRCm39)	Y826H	probably damaging	Het
Chic2	A	G	5: 75,171,954 (GRCm39)		probably benign	Het
Chrne	T	C	11: 70,509,338 (GRCm39)	H81R	probably benign	Het
Clec4e	A	G	6: 123,260,599 (GRCm39)	I153T	probably benign	Het
Col14a1	A	T	15: 55,272,300 (GRCm39)	D699V	unknown	Het
Cul3	T	G	1: 80,259,144 (GRCm39)	S379R	probably damaging	Het
Cyp3a11	T	A	5: 145,797,189 (GRCm39)	I397F	possibly damaging	Het
Dnah1	T	C	14: 31,022,906 (GRCm39)	K1077R	probably benign	Het
Dnajc18	A	G	18: 35,813,972 (GRCm39)	S266P	probably benign	Het
Dydc1	T	G	14: 40,800,647 (GRCm39)	L74R	probably damaging	Het
Echdc2	G	T	4: 108,027,067 (GRCm39)	A71S	possibly damaging	Het
Fer1l4	T	A	2: 155,886,650 (GRCm39)	D693V	probably benign	Het
Fscn3	T	C	6: 28,430,604 (GRCm39)	V258A	probably benign	Het
Herc2	T	A	7: 55,869,516 (GRCm39)	I4255N	probably damaging	Het
Il1rl2	A	G	1: 40,382,200 (GRCm39)	I171V	possibly damaging	Het
Ino80d	G	T	1: 63,097,467 (GRCm39)	T809K	probably damaging	Het
Lama2	A	T	10: 27,220,566 (GRCm39)	L433*	probably null	Het
Nlrp9c	A	T	7: 26,084,533 (GRCm39)	S349T	probably benign	Het
Parp8	A	T	13: 116,999,605 (GRCm39)		probably benign	Het
Pgm1	T	C	4: 99,827,236 (GRCm39)	F379L	probably damaging	Het
Phf21b	T	C	15: 84,671,448 (GRCm39)	H482R	probably benign	Het
Phka1	A	C	X: 101,584,716 (GRCm39)		probably null	Het
Plekhh1	T	C	12: 79,100,430 (GRCm39)	W133R	probably damaging	Het
Polr2a	A	C	11: 69,636,516 (GRCm39)	L405*	probably null	Het
Prrg3	T	A	X: 71,010,108 (GRCm39)	V3E	probably damaging	Het
Pth1r	T	C	9: 110,551,648 (GRCm39)	K484E	probably damaging	Het
Rcbtb1	T	C	14: 59,460,727 (GRCm39)	L230P	probably damaging	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Ssbp2	T	C	13: 91,672,720 (GRCm39)	Y27H	probably damaging	Het
Sult2a4	A	G	7: 13,665,692 (GRCm39)	V157A	probably damaging	Het
Tbx15	G	A	3: 99,259,296 (GRCm39)	S389N	probably benign	Het
Ttn	T	G	2: 76,671,424 (GRCm39)		probably benign	Het
Ube2n	T	C	10: 95,378,127 (GRCm39)		probably benign	Het
Wdr95	G	A	5: 149,505,352 (GRCm39)		probably null	Het
Wsb2	T	C	5: 117,514,620 (GRCm39)	S298P	possibly damaging	Het
Zc3h7a	T	C	16: 10,974,166 (GRCm39)		probably null	Het
Zfat	A	G	15: 68,037,758 (GRCm39)	C906R	probably damaging	Het
Zfp747	G	A	7: 126,973,180 (GRCm39)	T330I	probably damaging	Het
Zfp949	A	G	9: 88,450,717 (GRCm39)	R96G	probably benign	Het

Other mutations in Parp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Parp11	APN	6	127,448,526 (GRCm39)	nonsense	probably null
IGL01548:Parp11	APN	6	127,468,562 (GRCm39)	missense	probably damaging	1.00
IGL01638:Parp11	APN	6	127,468,492 (GRCm39)	missense	probably benign	0.13
IGL01688:Parp11	APN	6	127,448,569 (GRCm39)	missense	probably benign	0.00
IGL03297:Parp11	APN	6	127,467,045 (GRCm39)	splice site	probably benign
H8786:Parp11	UTSW	6	127,448,598 (GRCm39)	missense	probably damaging	1.00
R1514:Parp11	UTSW	6	127,451,256 (GRCm39)	missense	possibly damaging	0.89
R1817:Parp11	UTSW	6	127,467,008 (GRCm39)	missense	probably damaging	1.00
R1868:Parp11	UTSW	6	127,447,740 (GRCm39)	missense	probably damaging	1.00
R1942:Parp11	UTSW	6	127,447,663 (GRCm39)	critical splice acceptor site	probably null
R2011:Parp11	UTSW	6	127,454,854 (GRCm39)	missense	probably benign	0.02
R4483:Parp11	UTSW	6	127,448,568 (GRCm39)	missense	probably benign
R4507:Parp11	UTSW	6	127,451,246 (GRCm39)	missense	probably damaging	1.00
R4593:Parp11	UTSW	6	127,451,262 (GRCm39)	missense	probably benign	0.03
R5024:Parp11	UTSW	6	127,448,599 (GRCm39)	missense	probably damaging	1.00
R5371:Parp11	UTSW	6	127,447,755 (GRCm39)	missense	probably damaging	1.00
R6608:Parp11	UTSW	6	127,454,811 (GRCm39)	missense	possibly damaging	0.93
R7606:Parp11	UTSW	6	127,447,723 (GRCm39)	missense	probably benign	0.06
R8772:Parp11	UTSW	6	127,468,667 (GRCm39)	missense	probably damaging	1.00
R8772:Parp11	UTSW	6	127,447,726 (GRCm39)	missense	possibly damaging	0.77
R9042:Parp11	UTSW	6	127,448,615 (GRCm39)	nonsense	probably null

Posted On

2016-08-02