Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Pih1d1'

488811

Institutional Source

Beutler Lab

Gene Symbol

Pih1d1

Ensembl Gene

ENSMUSG00000003423

Gene Name

PIH1 domain containing 1

Synonyms

1110061L23Rik, 4933413A04Rik, Nop17

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.542) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45154303-45160065 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45159044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 179 (I179N)

Ref Sequence

ENSEMBL: ENSMUSP00000148186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085374] [ENSMUST00000085375] [ENSMUST00000107811] [ENSMUST00000107815] [ENSMUST00000209634] [ENSMUST00000209847] [ENSMUST00000209954] [ENSMUST00000209957] [ENSMUST00000209963] [ENSMUST00000210125] [ENSMUST00000210139] [ENSMUST00000211414] [ENSMUST00000211709] [ENSMUST00000211362]

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 damaging
Transcript: ENSMUST00000085375
AA Change: I179N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082490
Gene: ENSMUSG00000003423
AA Change: I179N

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: I179N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103441
Gene: ENSMUSG00000003423
AA Change: I179N

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

probably benign
Transcript: ENSMUST00000209634

Predicted Effect

probably benign
Transcript: ENSMUST00000209847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209889

Predicted Effect

probably benign
Transcript: ENSMUST00000209954

Predicted Effect

probably benign
Transcript: ENSMUST00000209957

Predicted Effect

probably benign
Transcript: ENSMUST00000209963

Predicted Effect

probably benign
Transcript: ENSMUST00000210125

Predicted Effect

probably damaging
Transcript: ENSMUST00000210139
AA Change: I179N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000211414

Predicted Effect

probably benign
Transcript: ENSMUST00000211709

Predicted Effect

probably benign
Transcript: ENSMUST00000211362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211336

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942 (GRCm38)		probably null	Het
4930402H24Rik	T	C	2: 130,778,473 (GRCm38)	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808 (GRCm38)	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033 (GRCm38)	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065 (GRCm38)	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661 (GRCm38)	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904 (GRCm38)	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663 (GRCm38)	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238 (GRCm38)	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999 (GRCm38)	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261 (GRCm38)	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858 (GRCm38)	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794 (GRCm38)	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065 (GRCm38)	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573 (GRCm38)	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978 (GRCm38)	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816 (GRCm38)	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766 (GRCm38)	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970 (GRCm38)	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417 (GRCm38)	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904 (GRCm38)	G602*	probably null	Het
Ep400	A	T	5: 110,756,703 (GRCm38)	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429 (GRCm38)	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899 (GRCm38)	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623 (GRCm38)	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768 (GRCm38)	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842 (GRCm38)	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612 (GRCm38)	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839 (GRCm38)	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379 (GRCm38)	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765 (GRCm38)	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601 (GRCm38)	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136 (GRCm38)	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959 (GRCm38)	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656 (GRCm38)	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246 (GRCm38)	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096 (GRCm38)	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607 (GRCm38)	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026 (GRCm38)	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243 (GRCm38)	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381 (GRCm38)	S525N	unknown	Het
Nasp	G	A	4: 116,611,077 (GRCm38)	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561 (GRCm38)	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717 (GRCm38)	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206 (GRCm38)	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569 (GRCm38)	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888 (GRCm38)	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117 (GRCm38)		silent	Het
Pde10a	T	C	17: 8,929,117 (GRCm38)	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791 (GRCm38)	D250V	probably benign	Het
Plaa	T	A	4: 94,583,992 (GRCm38)	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935 (GRCm38)	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302 (GRCm38)	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433 (GRCm38)		probably benign	Het
Ppm1j	G	A	3: 104,781,379 (GRCm38)	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073 (GRCm38)	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649 (GRCm38)	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467 (GRCm38)	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637 (GRCm38)		probably null	Het
Rapgef1	A	G	2: 29,736,666 (GRCm38)	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853 (GRCm38)	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484 (GRCm38)	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246 (GRCm38)		probably null	Het
Slc15a3	C	T	19: 10,857,251 (GRCm38)	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781 (GRCm38)	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575 (GRCm38)	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294 (GRCm38)		probably benign	Het
Syne1	T	C	10: 5,052,750 (GRCm38)	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563 (GRCm38)		probably null	Het
Tbc1d24	C	A	17: 24,208,229 (GRCm38)	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215 (GRCm38)	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030 (GRCm38)	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632 (GRCm38)	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213 (GRCm38)	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851 (GRCm38)	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943 (GRCm38)	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574 (GRCm38)	K156R	probably damaging	Het

Other mutations in Pih1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pih1d1	APN	7	45,159,964 (GRCm38)	missense	probably damaging	1.00
IGL01327:Pih1d1	APN	7	45,159,975 (GRCm38)	missense	probably benign	0.00
IGL02011:Pih1d1	APN	7	45,156,732 (GRCm38)	missense	probably damaging	1.00
IGL03145:Pih1d1	APN	7	45,159,121 (GRCm38)	critical splice donor site	probably null
R0659:Pih1d1	UTSW	7	45,159,975 (GRCm38)	missense	probably benign	0.06
R0686:Pih1d1	UTSW	7	45,156,329 (GRCm38)	nonsense	probably null
R0845:Pih1d1	UTSW	7	45,159,682 (GRCm38)	missense	probably benign	0.37
R0848:Pih1d1	UTSW	7	45,157,617 (GRCm38)	missense	probably damaging	1.00
R1679:Pih1d1	UTSW	7	45,159,826 (GRCm38)	critical splice donor site	probably null
R1894:Pih1d1	UTSW	7	45,157,741 (GRCm38)	missense	probably damaging	1.00
R4467:Pih1d1	UTSW	7	45,158,497 (GRCm38)	missense	possibly damaging	0.78
R4899:Pih1d1	UTSW	7	45,154,527 (GRCm38)	intron	probably benign
R5033:Pih1d1	UTSW	7	45,154,854 (GRCm38)	unclassified	probably benign
R5435:Pih1d1	UTSW	7	45,156,272 (GRCm38)	splice site	probably null
R6037:Pih1d1	UTSW	7	45,156,314 (GRCm38)	missense	probably damaging	0.98
R6037:Pih1d1	UTSW	7	45,156,314 (GRCm38)	missense	probably damaging	0.98
R6564:Pih1d1	UTSW	7	45,159,819 (GRCm38)	missense	probably damaging	1.00
R7557:Pih1d1	UTSW	7	45,156,759 (GRCm38)	missense	probably benign	0.00
R8675:Pih1d1	UTSW	7	45,154,382 (GRCm38)	missense	unknown
R8821:Pih1d1	UTSW	7	45,156,772 (GRCm38)	missense	possibly damaging	0.67
R9109:Pih1d1	UTSW	7	45,159,769 (GRCm38)	missense	possibly damaging	0.59
R9497:Pih1d1	UTSW	7	45,154,365 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGTCAAGCTTGCTATGGTCAG -3'
(R):5'- CCAACCAAAGGTTCAGGTGAGG -3'

Sequencing Primer
(F):5'- CTATGGTCAGCAGGAGGTATC -3'
(R):5'- AAGGTTCAGGTGAGGCCGTTC -3'

Posted On

2017-10-10