Incidental Mutation 'R0686:Pih1d1'
| ID |
61167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pih1d1
|
| Ensembl Gene |
ENSMUSG00000003423 |
| Gene Name |
PIH1 domain containing 1 |
| Synonyms |
1110061L23Rik, 4933413A04Rik, Nop17 |
| MMRRC Submission |
038871-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.583)
|
| Stock # |
R0686 (G1)
|
| Quality Score |
97 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44803727-44809489 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 44805753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 74
(L74*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085375]
[ENSMUST00000107811]
[ENSMUST00000107815]
[ENSMUST00000209847]
[ENSMUST00000211414]
[ENSMUST00000211709]
[ENSMUST00000210139]
[ENSMUST00000209954]
[ENSMUST00000209963]
[ENSMUST00000211362]
[ENSMUST00000209957]
[ENSMUST00000210125]
|
| AlphaFold |
Q9CQJ2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085375
AA Change: L7*
|
| SMART Domains |
Protein: ENSMUSP00000082490
Gene: ENSMUSG00000003423
AA Change: L7*
| 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 null
Transcript: ENSMUST00000107811
AA Change: L7*
|
| SMART Domains |
Protein: ENSMUSP00000103441
Gene: ENSMUSG00000003423
AA Change: L7*
| 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 null
Transcript: ENSMUST00000107813
AA Change: L7*
|
| SMART Domains |
Protein: ENSMUSP00000103443
Gene: ENSMUSG00000003423
AA Change: L7*
| 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 |
noncoding transcript
Transcript: ENSMUST00000209400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209581
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209847
AA Change: L7*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211414
AA Change: L7*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211709
AA Change: L74*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210139
AA Change: L7*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209954
AA Change: L7*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209963
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211362
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209889
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
C |
T |
5: 138,562,799 (GRCm39) |
E42K |
possibly damaging |
Het |
| Arhgef12 |
A |
C |
9: 42,904,324 (GRCm39) |
L718R |
probably benign |
Het |
| Bsx |
T |
G |
9: 40,787,733 (GRCm39) |
S136A |
probably damaging |
Het |
| Ccne2 |
T |
A |
4: 11,197,220 (GRCm39) |
M174K |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,749,077 (GRCm39) |
Y445H |
probably damaging |
Het |
| Ckb |
A |
G |
12: 111,636,627 (GRCm39) |
V249A |
probably benign |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Cyp2r1 |
T |
G |
7: 114,151,246 (GRCm39) |
M358L |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Eeig2 |
G |
A |
3: 108,900,001 (GRCm39) |
R116C |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,480,449 (GRCm39) |
D563E |
probably benign |
Het |
| Fhip1b |
G |
T |
7: 105,037,516 (GRCm39) |
L356I |
probably damaging |
Het |
| Fpr-rs4 |
A |
C |
17: 18,242,613 (GRCm39) |
I207L |
probably benign |
Het |
| Fus |
G |
A |
7: 127,571,935 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
A |
T |
9: 54,811,460 (GRCm39) |
I755L |
probably benign |
Het |
| Kctd9 |
A |
G |
14: 67,966,185 (GRCm39) |
T101A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,570,811 (GRCm39) |
S1R |
possibly damaging |
Het |
| Ltbr |
T |
C |
6: 125,285,024 (GRCm39) |
D292G |
possibly damaging |
Het |
| Med1 |
G |
A |
11: 98,049,230 (GRCm39) |
T507I |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,585 (GRCm39) |
M101K |
probably damaging |
Het |
| Or8g37 |
A |
C |
9: 39,730,964 (GRCm39) |
T10P |
probably damaging |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Prim2 |
T |
C |
1: 33,553,270 (GRCm39) |
T264A |
probably benign |
Het |
| Prss59 |
G |
A |
6: 40,905,452 (GRCm39) |
S68F |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Simc1 |
T |
A |
13: 54,673,003 (GRCm39) |
S450R |
probably benign |
Het |
| Tdrd1 |
A |
T |
19: 56,844,483 (GRCm39) |
N796I |
probably damaging |
Het |
| Vmn1r214 |
T |
A |
13: 23,218,962 (GRCm39) |
I152N |
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 |
|
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 |
|
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'- ACGGAGCCTTCATCGTAATGGAAC -3'
(R):5'- ACTGAAGCCACATCTCTGAGTGCC -3'
Sequencing Primer
(F):5'- acaaagcattccagggcag -3'
(R):5'- TAAATACCCAGGTTCCCACCAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation