Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01469:Pih1d3'

88191

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pih1d3

Ensembl Gene

ENSMUSG00000026063

Gene Name

PIH1 domain containing 3

Synonyms

4930521A18Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

31222838-31224288 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31223429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 164 (D164V)

Ref Sequence

ENSEMBL: ENSMUSP00000127665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027230] [ENSMUST00000127775] [ENSMUST00000135245] [ENSMUST00000187659]

AlphaFold

Q3KNI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027230
AA Change: D164V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127665
Gene: ENSMUSG00000026063
AA Change: D164V

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
Pfam:PIH1	70	209	2.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127775

SMART Domains

Protein: ENSMUSP00000120381
Gene: ENSMUSG00000086727

Domain	Start	End	E-Value	Type
low complexity region	55	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135245

SMART Domains

Protein: ENSMUSP00000120289
Gene: ENSMUSG00000086727

Domain	Start	End	E-Value	Type
low complexity region	55	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187659

SMART Domains

Protein: ENSMUSP00000139710
Gene: ENSMUSG00000086727

Domain	Start	End	E-Value	Type
low complexity region	55	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187892

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele develop normally but display male infertility associated with asthenozoospermia and abnormal sperm flagellum morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	A	G	4: 144,528,622	Q204R	possibly damaging	Het
Actn2	C	T	13: 12,310,910	E60K	possibly damaging	Het
Alpk1	T	C	3: 127,677,752		probably null	Het
Ccdc107	A	G	4: 43,495,751	N218S	probably benign	Het
Cdh23	A	T	10: 60,597,725	M60K	probably benign	Het
Cenpe	A	G	3: 135,228,806	Q378R	probably damaging	Het
Dnah8	T	A	17: 30,683,714		probably benign	Het
Eif2b4	T	C	5: 31,187,767	D190G	probably benign	Het
Fmo5	A	G	3: 97,651,568	N448S	probably benign	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Gbf1	A	T	19: 46,279,364	E1271V	probably damaging	Het
Ifitm6	A	T	7: 141,016,812	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,653,346		probably null	Het
Kng2	T	A	16: 22,999,827	K305I	probably damaging	Het
Lrp1	C	T	10: 127,584,414	R900Q	probably damaging	Het
Maml1	A	G	11: 50,266,526	M274T	probably damaging	Het
Med23	A	G	10: 24,882,597	E278G	probably damaging	Het
Myo1h	A	G	5: 114,361,269	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,186,869	S135R	probably benign	Het
Nrbf2	A	G	10: 67,270,140	L41P	probably damaging	Het
Olfr108	T	A	17: 37,445,535	S5T	probably benign	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr514	A	G	7: 108,825,327	V224A	probably benign	Het
Olfr678	T	A	7: 105,070,388	M307K	probably benign	Het
Olfr782	A	G	10: 129,350,580	M6V	probably benign	Het
Otoa	T	C	7: 121,155,273		probably null	Het
Plxnb1	T	C	9: 109,105,415		probably benign	Het
Ppp1r42	A	T	1: 10,003,233		probably null	Het
Rad54l2	T	A	9: 106,722,758	K100M	probably damaging	Het
Rnf112	T	A	11: 61,451,341	T308S	possibly damaging	Het
Scaper	T	C	9: 55,859,767	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,853,871	I796L	possibly damaging	Het
Shank3	T	C	15: 89,521,274	L476P	probably damaging	Het
Shkbp1	T	C	7: 27,355,941	T6A	probably benign	Het
Slc14a2	A	T	18: 78,155,566	I783N	probably damaging	Het
Stat1	A	G	1: 52,147,370	D447G	possibly damaging	Het
Tekt3	T	G	11: 63,073,468	I208S	probably damaging	Het
Tenm3	A	T	8: 48,236,423	V2043E	probably damaging	Het
Tgm3	T	C	2: 130,024,494	Y111H	probably damaging	Het
Tph2	T	A	10: 115,079,759	R459*	probably null	Het
Vmn2r109	T	C	17: 20,541,409	Y562C	probably damaging	Het

Other mutations in Pih1d3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Pih1d3	APN	1	31222972	missense	probably benign	0.00
IGL01629:Pih1d3	APN	1	31222933	splice site	probably null
IGL02545:Pih1d3	APN	1	31223096	missense	probably damaging	0.99
R1263:Pih1d3	UTSW	1	31223215	missense	probably damaging	1.00
R1477:Pih1d3	UTSW	1	31223023	missense	probably benign	0.08
R2073:Pih1d3	UTSW	1	31222996	missense	probably benign	0.01
R4459:Pih1d3	UTSW	1	31223324	missense	probably damaging	1.00
R5289:Pih1d3	UTSW	1	31223527	missense	probably benign	0.02
R5303:Pih1d3	UTSW	1	31223456	missense	probably damaging	1.00
R6216:Pih1d3	UTSW	1	31223351	missense	probably damaging	1.00
R6994:Pih1d3	UTSW	1	31222909	unclassified	probably benign
R7372:Pih1d3	UTSW	1	31223351	missense	probably damaging	1.00
R8127:Pih1d3	UTSW	1	31223120	missense	probably benign
R8415:Pih1d3	UTSW	1	31223483	missense	probably benign	0.30
R8439:Pih1d3	UTSW	1	31223268	missense	probably damaging	1.00

Posted On

2013-11-18