Mutagenetix > Incidental Mutation

Incidental Mutation 'R6564:Pih1d1'

522335

Institutional Source

Beutler Lab

Gene Symbol

Pih1d1

Ensembl Gene

ENSMUSG00000003423

Gene Name

PIH1 domain containing 1

Synonyms

1110061L23Rik, 4933413A04Rik, Nop17

MMRRC Submission

044688-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.654) question?

Stock #

R6564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44803727-44809489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44809243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 276 (R276W)

Ref Sequence

ENSEMBL: ENSMUSP00000148186 (fasta)

Gene Model

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

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: R276W

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

SMART Domains

Protein: ENSMUSP00000082490
Gene: ENSMUSG00000003423
AA Change: R276W

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: R276W

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

SMART Domains

Protein: ENSMUSP00000103441
Gene: ENSMUSG00000003423
AA Change: R276W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209400

Predicted Effect

probably benign
Transcript: ENSMUST00000209634

Predicted Effect

probably benign
Transcript: ENSMUST00000209847

Predicted Effect

probably benign
Transcript: ENSMUST00000209954

Predicted Effect

probably damaging
Transcript: ENSMUST00000210139
AA Change: R276W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211336

Predicted Effect

probably benign
Transcript: ENSMUST00000211709

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,622,613 (GRCm39)		probably null	Het
4931429L15Rik	C	A	9: 46,218,202 (GRCm39)	D179Y	probably damaging	Het
Abca1	A	T	4: 53,034,031 (GRCm39)	L2233Q	possibly damaging	Het
Abca12	T	A	1: 71,349,009 (GRCm39)	E834V	possibly damaging	Het
Abcc9	T	C	6: 142,548,834 (GRCm39)	Y1318C	probably damaging	Het
Adam15	C	A	3: 89,254,519 (GRCm39)	R121L	possibly damaging	Het
Afdn	T	A	17: 14,116,351 (GRCm39)	M1588K	probably benign	Het
Akap9	T	C	5: 4,078,491 (GRCm39)	S1849P	probably damaging	Het
Aoc1l1	T	C	6: 48,954,509 (GRCm39)	V549A	probably benign	Het
Bag6	T	C	17: 35,359,347 (GRCm39)	S213P	probably damaging	Het
Bpifb9a	T	C	2: 154,102,098 (GRCm39)	V65A	probably benign	Het
Chn1	T	A	2: 73,448,385 (GRCm39)	I203F	probably damaging	Het
Crnkl1	T	A	2: 145,770,165 (GRCm39)	E226V	possibly damaging	Het
Cspg4	A	G	9: 56,797,442 (GRCm39)	E1302G	probably benign	Het
Dnah5	G	T	15: 28,367,891 (GRCm39)	A2759S	probably benign	Het
Dtx1	T	A	5: 120,833,082 (GRCm39)	T119S	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ezr	C	T	17: 7,010,246 (GRCm39)	V268M	probably damaging	Het
Fbxl15	T	C	19: 46,317,777 (GRCm39)	V153A	probably damaging	Het
Fkbpl	C	A	17: 34,865,240 (GRCm39)	A336E	probably benign	Het
Gsg1l2	A	G	11: 67,677,330 (GRCm39)	T200A	possibly damaging	Het
H2ax	T	C	9: 44,246,209 (GRCm39)	Y51H	probably damaging	Het
Ifi213	A	C	1: 173,422,862 (GRCm39)	M1R	probably null	Het
Kcnt1	A	C	2: 25,801,063 (GRCm39)	D1045A	probably benign	Het
Kdm4a	C	A	4: 118,034,636 (GRCm39)	A32S	probably benign	Het
Klkb1	A	T	8: 45,726,671 (GRCm39)	V444E	probably damaging	Het
Mccc1	T	C	3: 36,030,825 (GRCm39)	T414A	probably damaging	Het
Miga1	A	C	3: 151,990,959 (GRCm39)	N367K	probably damaging	Het
Mmp7	A	G	9: 7,695,185 (GRCm39)	D49G	probably benign	Het
Nlrp1a	A	G	11: 71,014,398 (GRCm39)	L284P	probably damaging	Het
Or7g33	G	A	9: 19,448,506 (GRCm39)	T240I	possibly damaging	Het
Or9s15	T	C	1: 92,524,285 (GRCm39)	S15P	probably benign	Het
Pbld1	T	A	10: 62,907,806 (GRCm39)	I224N	possibly damaging	Het
Plekhg1	G	T	10: 3,914,153 (GRCm39)	V1292L	probably damaging	Het
Prex2	A	G	1: 11,171,285 (GRCm39)		probably null	Het
Rbm6	T	C	9: 107,710,697 (GRCm39)	Y498C	probably damaging	Het
Reps1	T	A	10: 17,998,140 (GRCm39)		probably null	Het
Ruvbl1	T	A	6: 88,456,208 (GRCm39)	I154N	possibly damaging	Het
Slc4a5	T	G	6: 83,257,042 (GRCm39)	F616V	possibly damaging	Het
Spag5	A	T	11: 78,206,401 (GRCm39)	T798S	probably damaging	Het
Spam1	T	A	6: 24,796,355 (GRCm39)	I102K	possibly damaging	Het
Sptbn2	C	A	19: 4,782,052 (GRCm39)	F430L	probably damaging	Het
Svs3a	T	A	2: 164,131,270 (GRCm39)	I21K	probably damaging	Het
Tet3	T	A	6: 83,363,052 (GRCm39)	I842L	possibly damaging	Het
Tlr2	T	A	3: 83,745,002 (GRCm39)	K360N	probably benign	Het
Tmem45b	C	G	9: 31,339,301 (GRCm39)	W138S	probably damaging	Het
Tpgs2	T	C	18: 25,291,344 (GRCm39)	E40G	probably damaging	Het
Traj40	T	C	14: 54,415,399 (GRCm39)		probably benign	Het
Trpm5	A	G	7: 142,626,507 (GRCm39)	S125P	probably damaging	Het
Ttc3	G	T	16: 94,243,470 (GRCm39)	C1158F	probably damaging	Het
Tubg1	T	C	11: 101,011,715 (GRCm39)	I74T	probably damaging	Het
Vav2	A	T	2: 27,169,197 (GRCm39)		probably null	Het
Wbp4	G	T	14: 79,704,868 (GRCm39)	H201N	probably damaging	Het
Wdhd1	A	G	14: 47,485,499 (GRCm39)	S821P	probably benign	Het
Wsb2	A	T	5: 117,508,625 (GRCm39)		probably null	Het
Zic5	A	G	14: 122,696,833 (GRCm39)	L594P	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGAAGCCACACCCTGCTTG -3'
(R):5'- GGCACTCTGGTCAAGAAGAC -3'

Sequencing Primer
(F):5'- CTAGGACCTTGTGGACATAGC -3'
(R):5'- TCAAGAAGACGCTGTCAGG -3'

Posted On

2018-06-06