Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01327:Pih1d1'

74300

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: 0.654) question?

Stock #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

44803727-44809489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44809399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 289 (S289P)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085374] [ENSMUST00000085375] [ENSMUST00000107811] [ENSMUST00000209634] [ENSMUST00000209847] [ENSMUST00000210139] [ENSMUST00000211709] [ENSMUST00000211414] [ENSMUST00000209954]

AlphaFold

Q9CQJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000085374

SMART Domains

Protein: ENSMUSP00000082489
Gene: ENSMUSG00000070570

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
Pfam:MFS_1	68	453	9.3e-49	PFAM
transmembrane domain	468	490	N/A	INTRINSIC
low complexity region	525	539	N/A	INTRINSIC
low complexity region	550	556	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085375
AA Change: S289P

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

SMART Domains

Protein: ENSMUSP00000082490
Gene: ENSMUSG00000003423
AA Change: S289P

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 benign
Transcript: ENSMUST00000107811
AA Change: S289P

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

SMART Domains

Protein: ENSMUSP00000103441
Gene: ENSMUSG00000003423
AA Change: S289P

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 benign
Transcript: ENSMUST00000107813
AA Change: S289P

SMART Domains

Protein: ENSMUSP00000103443
Gene: ENSMUSG00000003423
AA Change: S289P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209400

Predicted Effect

probably benign
Transcript: ENSMUST00000209634

Predicted Effect

probably benign
Transcript: ENSMUST00000209847

Predicted Effect

probably benign
Transcript: ENSMUST00000210139
AA Change: S289P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211336

Predicted Effect

probably benign
Transcript: ENSMUST00000211414

Predicted Effect

probably benign
Transcript: ENSMUST00000209954

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,029,521 (GRCm39)	V497E	probably damaging	Het
Adcy7	T	G	8: 89,045,418 (GRCm39)		probably benign	Het
Aldh1a2	T	A	9: 71,193,248 (GRCm39)	F486I	possibly damaging	Het
Alox12	T	A	11: 70,145,375 (GRCm39)	H66L	probably benign	Het
Apoh	T	G	11: 108,288,187 (GRCm39)	Y102D	probably damaging	Het
Arl9	T	C	5: 77,154,401 (GRCm39)	V43A	possibly damaging	Het
Atf6	A	G	1: 170,616,175 (GRCm39)		probably null	Het
Atp4a	T	A	7: 30,412,675 (GRCm39)	I127N	possibly damaging	Het
AY358078	T	A	14: 52,043,166 (GRCm39)		probably benign	Het
Baat	T	G	4: 49,490,338 (GRCm39)	K249Q	probably damaging	Het
Brat1	C	T	5: 140,703,963 (GRCm39)	Q739*	probably null	Het
C8g	A	G	2: 25,389,089 (GRCm39)	F165L	probably damaging	Het
Cel	T	G	2: 28,447,967 (GRCm39)	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,546,813 (GRCm39)	T803K	unknown	Het
Cpxm1	A	G	2: 130,238,277 (GRCm39)	L95P	probably benign	Het
Ctsr	A	G	13: 61,310,489 (GRCm39)		probably benign	Het
Cyth1	A	G	11: 118,084,439 (GRCm39)		probably null	Het
Dync1h1	A	T	12: 110,583,126 (GRCm39)		probably benign	Het
Ezh1	C	T	11: 101,094,262 (GRCm39)	C407Y	probably damaging	Het
Fam243	T	C	16: 92,117,661 (GRCm39)	Y209C	probably benign	Het
Gm3696	A	T	14: 18,435,903 (GRCm39)	W38R	probably benign	Het
Gm9611	T	C	14: 42,116,622 (GRCm39)	T39A	possibly damaging	Het
Gnpat	T	A	8: 125,605,372 (GRCm39)	L287H	probably damaging	Het
Golm1	G	T	13: 59,792,958 (GRCm39)	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,798,013 (GRCm39)	M899V	probably benign	Het
Hsf3	T	A	X: 95,358,578 (GRCm39)	M272L	probably benign	Het
Kif19a	C	T	11: 114,672,625 (GRCm39)		probably benign	Het
Lcn2	T	G	2: 32,276,030 (GRCm39)	Y100S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,131 (GRCm39)	S180R	probably damaging	Het
Ly6h	A	G	15: 75,436,948 (GRCm39)		probably benign	Het
Macf1	T	C	4: 123,403,705 (GRCm39)	N705D	probably benign	Het
Mst1r	C	T	9: 107,785,043 (GRCm39)	P234S	probably benign	Het
Msto1	T	A	3: 88,817,939 (GRCm39)		probably null	Het
Myo5a	T	A	9: 75,094,820 (GRCm39)		probably benign	Het
Nipa1	T	C	7: 55,629,409 (GRCm39)	I235V	probably benign	Het
Nlgn3	T	C	X: 100,362,228 (GRCm39)	V399A	probably benign	Het
Or1d2	T	A	11: 74,255,738 (GRCm39)	M81K	possibly damaging	Het
Or2b28	A	G	13: 21,531,377 (GRCm39)	N93S	probably benign	Het
Ppl	T	C	16: 4,905,508 (GRCm39)	N1596D	probably benign	Het
Psmb6	T	A	11: 70,417,412 (GRCm39)	S114R	possibly damaging	Het
Pum1	C	A	4: 130,457,854 (GRCm39)	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,054,676 (GRCm39)	I75V	probably benign	Het
Slc24a3	T	A	2: 145,444,478 (GRCm39)	I284N	probably benign	Het
Slc44a3	C	T	3: 121,320,842 (GRCm39)	G53D	probably damaging	Het
Slc9a4	A	C	1: 40,668,565 (GRCm39)	D736A	probably benign	Het
Stra6	A	G	9: 58,059,854 (GRCm39)	D605G	probably benign	Het
Tas2r126	T	A	6: 42,411,684 (GRCm39)	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,564,408 (GRCm39)	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,319,925 (GRCm39)	G14R	probably benign	Het
Ticrr	C	T	7: 79,344,209 (GRCm39)	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,184,340 (GRCm39)	N518K	probably benign	Het
Trpm4	C	A	7: 44,964,497 (GRCm39)	W533C	probably damaging	Het
Tsen54	T	C	11: 115,712,538 (GRCm39)	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,304,597 (GRCm39)	T219M	probably damaging	Het
Usp19	T	C	9: 108,376,160 (GRCm39)	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,279,616 (GRCm39)	Y43F	probably benign	Het
Vsig1	T	A	X: 139,838,429 (GRCm39)	V283E	possibly 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
IGL02011:Pih1d1	APN	7	44,806,156 (GRCm39)	missense	probably damaging	1.00
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

2013-10-07