Incidental Mutation 'R4467:Pih1d1'
| ID |
329240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pih1d1
|
| Ensembl Gene |
ENSMUSG00000003423 |
| Gene Name |
PIH1 domain containing 1 |
| Synonyms |
1110061L23Rik, 4933413A04Rik, Nop17 |
| MMRRC Submission |
041724-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
R4467 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44803727-44809489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44807921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 132
(M132V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085375]
[ENSMUST00000107811]
[ENSMUST00000107815]
[ENSMUST00000210139]
[ENSMUST00000209954]
[ENSMUST00000209957]
[ENSMUST00000211709]
[ENSMUST00000209847]
[ENSMUST00000210125]
[ENSMUST00000211414]
[ENSMUST00000211362]
[ENSMUST00000209963]
|
| AlphaFold |
Q9CQJ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085375
AA Change: M132V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000082490
Gene: ENSMUSG00000003423
AA Change: M132V
| 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: M132V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103441
Gene: ENSMUSG00000003423
AA Change: M132V
| 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: ENSMUST00000107813
AA Change: M132V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103443
Gene: ENSMUSG00000003423
AA Change: M132V
| 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 |
possibly damaging
Transcript: ENSMUST00000153973
AA Change: M132V
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122727
Gene: ENSMUSG00000003423
AA Change: M132V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
20 |
136 |
1.3e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209581
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210139
AA Change: M132V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209954
AA Change: M132V
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211709
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209847
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210125
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211362
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209963
|
| Meta Mutation Damage Score |
0.1079 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,171 (GRCm39) |
Y57H |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,360,808 (GRCm39) |
T1220I |
probably damaging |
Het |
| Brat1 |
T |
C |
5: 140,690,826 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,136,366 (GRCm39) |
Y39* |
probably null |
Het |
| Chrnd |
T |
A |
1: 87,125,099 (GRCm39) |
L384Q |
probably damaging |
Het |
| Cpa3 |
A |
T |
3: 20,282,981 (GRCm39) |
Y155* |
probably null |
Het |
| Crlf1 |
G |
A |
8: 70,953,606 (GRCm39) |
W260* |
probably null |
Het |
| Cux1 |
C |
G |
5: 136,341,576 (GRCm39) |
E605D |
probably damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dmtf1 |
T |
C |
5: 9,186,085 (GRCm39) |
N167S |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,609,567 (GRCm39) |
I372T |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,128,944 (GRCm39) |
|
probably null |
Het |
| Dtx2 |
T |
A |
5: 136,040,930 (GRCm39) |
W112R |
probably damaging |
Het |
| Elf3 |
A |
G |
1: 135,184,582 (GRCm39) |
I138T |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,008,093 (GRCm39) |
D8E |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,678,340 (GRCm39) |
T20K |
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,322,750 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Has1 |
C |
T |
17: 18,064,257 (GRCm39) |
V461M |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 38,085,566 (GRCm39) |
G80D |
probably benign |
Het |
| Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
| Lamp5 |
A |
G |
2: 135,900,940 (GRCm39) |
I47V |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,272,933 (GRCm39) |
I84T |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,885,027 (GRCm39) |
D122G |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,213,135 (GRCm39) |
E1875G |
probably benign |
Het |
| Pon2 |
C |
T |
6: 5,267,021 (GRCm39) |
A241T |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,927,339 (GRCm39) |
I538V |
possibly damaging |
Het |
| Rab36 |
C |
T |
10: 74,887,875 (GRCm39) |
R249* |
probably null |
Het |
| Rps6kl1 |
C |
T |
12: 85,194,582 (GRCm39) |
A110T |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,435,356 (GRCm39) |
T244A |
probably benign |
Het |
| Slc22a7 |
T |
C |
17: 46,743,436 (GRCm39) |
I532V |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,247,731 (GRCm39) |
V377A |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
| Stat6 |
T |
G |
10: 127,487,097 (GRCm39) |
I201M |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,273,536 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,937,107 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tctn2 |
T |
C |
5: 124,758,252 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ubr5 |
T |
A |
15: 38,004,580 (GRCm39) |
T1282S |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,254,806 (GRCm39) |
I550N |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,158,372 (GRCm39) |
V557A |
possibly damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,253 (GRCm39) |
S56P |
probably damaging |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGTATGCTGCCTCTCAC -3'
(R):5'- ACTGGATTCACCTCTCCCAG -3'
Sequencing Primer
(F):5'- ACTTCCTGTGTCTTGGGTCTCTG -3'
(R):5'- GGATTCACCTCTCCCAGTGTAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation