Incidental Mutation 'R6037:Pih1d1'
| ID |
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 |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
R6037 (G1)
|
| Quality Score |
176.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44803727-44809489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44805738 bp (GRCm39)
|
| 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]
[ENSMUST00000211414]
[ENSMUST00000209954]
[ENSMUST00000210139]
[ENSMUST00000211709]
[ENSMUST00000209963]
[ENSMUST00000211362]
[ENSMUST00000209957]
[ENSMUST00000210125]
|
| AlphaFold |
Q9CQJ2 |
| 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: ENSMUST00000211414
AA Change: A2V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209954
AA Change: A2V
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210139
AA Change: A2V
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211709
AA Change: A69V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211362
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210125
|
| 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: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abi2 |
C |
A |
1: 60,503,738 (GRCm39) |
P212T |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 89,153,108 (GRCm39) |
F68S |
possibly damaging |
Het |
| Art5 |
C |
A |
7: 101,747,591 (GRCm39) |
A63S |
probably benign |
Het |
| Asgr1 |
T |
A |
11: 69,947,247 (GRCm39) |
S96R |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,163,957 (GRCm39) |
V2248D |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 135,998,705 (GRCm39) |
A200V |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,390,738 (GRCm39) |
K357E |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,864,282 (GRCm38) |
N348S |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,837,126 (GRCm39) |
G212R |
probably benign |
Het |
| Dcun1d3 |
A |
G |
7: 119,456,965 (GRCm39) |
F249S |
probably damaging |
Het |
| Ece2 |
A |
G |
16: 20,449,112 (GRCm39) |
Y17C |
probably damaging |
Het |
| Efemp1 |
C |
T |
11: 28,871,760 (GRCm39) |
T425I |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,128,306 (GRCm39) |
E562G |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,177,295 (GRCm39) |
T2001A |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,527,867 (GRCm39) |
R940H |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,351,644 (GRCm39) |
M1716K |
probably benign |
Het |
| Gm10684 |
T |
A |
9: 45,019,039 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,311,416 (GRCm39) |
V1219I |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Il23r |
C |
T |
6: 67,455,938 (GRCm39) |
V177M |
probably damaging |
Het |
| Klf12 |
T |
C |
14: 100,137,650 (GRCm39) |
S299G |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,848,806 (GRCm39) |
R265C |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,216,424 (GRCm39) |
T800A |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,063,831 (GRCm39) |
L2729P |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,298,532 (GRCm39) |
S2167R |
possibly damaging |
Het |
| Mus81 |
T |
C |
19: 5,534,032 (GRCm39) |
K400E |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,712,423 (GRCm39) |
I656N |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,907,384 (GRCm39) |
T418A |
probably benign |
Het |
| Olr1 |
A |
G |
6: 129,470,504 (GRCm39) |
L221P |
probably damaging |
Het |
| Or14c44 |
C |
T |
7: 86,062,478 (GRCm39) |
L303F |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,876,928 (GRCm39) |
M34T |
probably benign |
Het |
| Or8b3 |
T |
A |
9: 38,314,601 (GRCm39) |
C144S |
probably benign |
Het |
| Or8g22 |
A |
G |
9: 38,958,403 (GRCm39) |
V104A |
probably damaging |
Het |
| Or8k28 |
T |
A |
2: 86,286,133 (GRCm39) |
I161L |
probably benign |
Het |
| Pkdrej |
A |
C |
15: 85,703,967 (GRCm39) |
S656R |
probably damaging |
Het |
| Polr3f |
A |
G |
2: 144,377,943 (GRCm39) |
D171G |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,787,566 (GRCm39) |
V11A |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Sptbn4 |
T |
A |
7: 27,063,595 (GRCm39) |
Y2277F |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,502,240 (GRCm39) |
Q7R |
probably damaging |
Het |
| Thrsp |
T |
G |
7: 97,066,499 (GRCm39) |
D71A |
possibly damaging |
Het |
| Vmn2r1 |
C |
A |
3: 63,989,150 (GRCm39) |
Q30K |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,787,005 (GRCm39) |
P345S |
probably benign |
Het |
| Zeb2 |
G |
T |
2: 44,878,652 (GRCm39) |
S1170* |
probably null |
Het |
| Zfp947 |
A |
G |
17: 22,366,415 (GRCm39) |
Y38H |
probably 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 |
|
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 |
|
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'- CAGGACAAATTTTGGGATTCTGG -3'
(R):5'- GGGAACTGAAGCCACATCTC -3'
Sequencing Primer
(F):5'- TAATCCCAGCACTTTGGAGG -3'
(R):5'- TGAAGCCACATCTCTGAGTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation