Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02011:Pih1d1'

183376

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pih1d1

Ensembl Gene

ENSMUSG00000003423

Gene Name

PIH1 domain containing 1

Synonyms

1110061L23Rik, 4933413A04Rik, Nop17

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.583) question?

Stock #

IGL02011

Quality Score

Status

Chromosome

Chromosomal Location

44803727-44809489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44806156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 31 (A31S)

Ref Sequence

ENSEMBL: ENSMUSP00000148186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085375] [ENSMUST00000107811] [ENSMUST00000107815] [ENSMUST00000209847] [ENSMUST00000211414] [ENSMUST00000209954] [ENSMUST00000210139] [ENSMUST00000211709] [ENSMUST00000210125] [ENSMUST00000211362] [ENSMUST00000209957] [ENSMUST00000209963]

AlphaFold

Q9CQJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000085375
AA Change: A31S

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

SMART Domains

Protein: ENSMUSP00000082490
Gene: ENSMUSG00000003423
AA Change: A31S

Domain	Start	End	E-Value	Type
Pfam:PIH1	23	207	1.8e-50	PFAM
Pfam:PIH1	211	285	2.3e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107811
AA Change: A31S

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

SMART Domains

Protein: ENSMUSP00000103441
Gene: ENSMUSG00000003423
AA Change: A31S

Domain	Start	End	E-Value	Type
Pfam:PIH1	23	207	1.8e-50	PFAM
Pfam:PIH1	211	285	2.3e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107813
AA Change: A31S

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

SMART Domains

Protein: ENSMUSP00000103443
Gene: ENSMUSG00000003423
AA Change: A31S

Domain	Start	End	E-Value	Type
Pfam:PIH1	22	209	7.6e-39	PFAM
Pfam:PIH1	205	285	1.3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107815

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833

Domain	Start	End	E-Value	Type
Pfam:Aldedh	48	488	3.8e-87	PFAM
Pfam:Aldedh	536	753	2.7e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209581

Predicted Effect

probably damaging
Transcript: ENSMUST00000209847
AA Change: A31S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211414
AA Change: A31S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209954
AA Change: A31S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210139
AA Change: A31S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211709
AA Change: A98S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211336

Predicted Effect

probably benign
Transcript: ENSMUST00000210125

Predicted Effect

probably benign
Transcript: ENSMUST00000211362

Predicted Effect

probably benign
Transcript: ENSMUST00000209957

Predicted Effect

probably benign
Transcript: ENSMUST00000209963

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	T	A	14: 49,318,592 (GRCm39)		probably benign	Het
Arg1	T	C	10: 24,792,275 (GRCm39)	T215A	probably benign	Het
Arhgap15	A	T	2: 43,670,767 (GRCm39)	K50N	probably damaging	Het
Ctdsp1	C	T	1: 74,433,175 (GRCm39)		probably benign	Het
Cwc22	A	T	2: 77,751,366 (GRCm39)	D363E	possibly damaging	Het
Drd2	G	T	9: 49,318,258 (GRCm39)	C400F	probably damaging	Het
Eef1akmt1	A	T	14: 57,795,555 (GRCm39)	Y65N	probably damaging	Het
Gbp10	C	A	5: 105,368,967 (GRCm39)	G291W	probably damaging	Het
Lrit1	T	A	14: 36,784,280 (GRCm39)	V536E	probably damaging	Het
Or4d1	C	A	11: 87,805,708 (GRCm39)	W8L	probably benign	Het
Or52ab4	G	T	7: 102,988,056 (GRCm39)	R265L	probably damaging	Het
Or9s15	T	A	1: 92,524,621 (GRCm39)	Y127N	probably damaging	Het
Pcdh12	C	T	18: 38,414,473 (GRCm39)	G884D	probably damaging	Het
Plcxd2	T	C	16: 45,785,454 (GRCm39)	D317G	probably damaging	Het
Prkaca	T	C	8: 84,717,565 (GRCm39)	F231S	probably damaging	Het
Raet1d	T	A	10: 22,247,473 (GRCm39)	I183K	probably damaging	Het
Scaper	A	G	9: 55,487,606 (GRCm39)	F752S	probably damaging	Het
Shisa9	C	T	16: 12,062,502 (GRCm39)	T241I	possibly damaging	Het
Taar9	C	T	10: 23,984,477 (GRCm39)	R319H	possibly damaging	Het
Unkl	T	A	17: 25,437,565 (GRCm39)	V365E	probably damaging	Het
Usp34	C	T	11: 23,421,554 (GRCm39)	S3077F	probably damaging	Het
Vps16	A	G	2: 130,283,399 (GRCm39)	I566V	probably benign	Het
Vrk2	T	A	11: 26,421,717 (GRCm39)	T414S	probably benign	Het
Xpnpep1	A	T	19: 52,990,896 (GRCm39)		probably benign	Het
Zfp804a	A	G	2: 82,087,035 (GRCm39)	Q288R	probably damaging	Het

Other mutations in Pih1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pih1d1	APN	7	44,809,388 (GRCm39)	missense	probably damaging	1.00
IGL01327:Pih1d1	APN	7	44,809,399 (GRCm39)	missense	probably benign	0.00
IGL03145:Pih1d1	APN	7	44,808,545 (GRCm39)	critical splice donor site	probably null
R0659:Pih1d1	UTSW	7	44,809,399 (GRCm39)	missense	probably benign	0.06
R0686:Pih1d1	UTSW	7	44,805,753 (GRCm39)	nonsense	probably null
R0845:Pih1d1	UTSW	7	44,809,106 (GRCm39)	missense	probably benign	0.37
R0848:Pih1d1	UTSW	7	44,807,041 (GRCm39)	missense	probably damaging	1.00
R1679:Pih1d1	UTSW	7	44,809,250 (GRCm39)	critical splice donor site	probably null
R1894:Pih1d1	UTSW	7	44,807,165 (GRCm39)	missense	probably damaging	1.00
R4467:Pih1d1	UTSW	7	44,807,921 (GRCm39)	missense	possibly damaging	0.78
R4899:Pih1d1	UTSW	7	44,803,951 (GRCm39)	intron	probably benign
R5033:Pih1d1	UTSW	7	44,804,278 (GRCm39)	unclassified	probably benign
R5435:Pih1d1	UTSW	7	44,805,696 (GRCm39)	splice site	probably null
R6037:Pih1d1	UTSW	7	44,805,738 (GRCm39)	missense	probably damaging	0.98
R6037:Pih1d1	UTSW	7	44,805,738 (GRCm39)	missense	probably damaging	0.98
R6145:Pih1d1	UTSW	7	44,808,468 (GRCm39)	missense	probably damaging	0.99
R6564:Pih1d1	UTSW	7	44,809,243 (GRCm39)	missense	probably damaging	1.00
R7557:Pih1d1	UTSW	7	44,806,183 (GRCm39)	missense	probably benign	0.00
R8675:Pih1d1	UTSW	7	44,803,806 (GRCm39)	missense	unknown
R8821:Pih1d1	UTSW	7	44,806,196 (GRCm39)	missense	possibly damaging	0.67
R9109:Pih1d1	UTSW	7	44,809,193 (GRCm39)	missense	possibly damaging	0.59
R9497:Pih1d1	UTSW	7	44,803,789 (GRCm39)	missense	unknown

Posted On

2014-05-07