Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:Pih1d1'

486626

Institutional Source

Beutler Lab

Gene Symbol

Pih1d1

Ensembl Gene

ENSMUSG00000003423

Gene Name

PIH1 domain containing 1

Synonyms

1110061L23Rik, 4933413A04Rik, Nop17

MMRRC Submission

043258-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.549) question?

Stock #

R6037 (G1)

Quality Score

176.009

Status

Not validated

Chromosome

Chromosomal Location

45154303-45160065 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45156314 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 69 (A69V)

Ref Sequence

ENSEMBL: ENSMUSP00000147567 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085375
AA Change: A2V

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082490
Gene: ENSMUSG00000003423
AA Change: A2V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107811
AA Change: A2V

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103441
Gene: ENSMUSG00000003423
AA Change: A2V

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: 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

possibly damaging
Transcript: ENSMUST00000209847
AA Change: A2V

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209889

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209954
AA Change: A2V

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000209957

Predicted Effect

probably benign
Transcript: ENSMUST00000209963

Predicted Effect

probably benign
Transcript: ENSMUST00000210125

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210139
AA Change: A2V

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211414
AA Change: A2V

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211709
AA Change: A69V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211336

Predicted Effect

probably benign
Transcript: ENSMUST00000211362

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abi2	C	A	1: 60,464,579	P212T	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Cfap52	C	T	11: 67,946,300	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Ece2	A	G	16: 20,630,362	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Nomo1	T	A	7: 46,062,999	I656N	possibly damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Olr1	A	G	6: 129,493,541	L221P	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,612,228	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zeb2	G	T	2: 44,988,640	S1170*	probably null	Het
Zfp947	A	G	17: 22,147,434	Y38H	probably damaging	Het

Other mutations in Pih1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pih1d1	APN	7	45159964	missense	probably damaging	1.00
IGL01327:Pih1d1	APN	7	45159975	missense	probably benign	0.00
IGL02011:Pih1d1	APN	7	45156732	missense	probably damaging	1.00
IGL03145:Pih1d1	APN	7	45159121	critical splice donor site	probably null
R0659:Pih1d1	UTSW	7	45159975	missense	probably benign	0.06
R0686:Pih1d1	UTSW	7	45156329	nonsense	probably null
R0845:Pih1d1	UTSW	7	45159682	missense	probably benign	0.37
R0848:Pih1d1	UTSW	7	45157617	missense	probably damaging	1.00
R1679:Pih1d1	UTSW	7	45159826	critical splice donor site	probably null
R1894:Pih1d1	UTSW	7	45157741	missense	probably damaging	1.00
R4467:Pih1d1	UTSW	7	45158497	missense	possibly damaging	0.78
R4899:Pih1d1	UTSW	7	45154527	intron	probably benign
R5033:Pih1d1	UTSW	7	45154854	unclassified	probably benign
R5435:Pih1d1	UTSW	7	45156272	splice site	probably null
R6037:Pih1d1	UTSW	7	45156314	missense	probably damaging	0.98
R6145:Pih1d1	UTSW	7	45159044	missense	probably damaging	0.99
R6564:Pih1d1	UTSW	7	45159819	missense	probably damaging	1.00
R7557:Pih1d1	UTSW	7	45156759	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGACAAATTTTGGGATTCTGG -3'
(R):5'- GGGAACTGAAGCCACATCTC -3'

Sequencing Primer
(F):5'- TAATCCCAGCACTTTGGAGG -3'
(R):5'- TGAAGCCACATCTCTGAGTG -3'

Posted On

2017-08-16