Incidental Mutation 'R0845:Pih1d1'
ID |
77320 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pih1d1
|
Ensembl Gene |
ENSMUSG00000003423 |
Gene Name |
PIH1 domain containing 1 |
Synonyms |
1110061L23Rik, 4933413A04Rik, Nop17 |
MMRRC Submission |
039024-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.583)
|
Stock # |
R0845 (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 44809106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 230
(D230G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085374]
[ENSMUST00000085375]
[ENSMUST00000107811]
[ENSMUST00000209634]
[ENSMUST00000209847]
[ENSMUST00000210139]
[ENSMUST00000209954]
[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 benign
Transcript: ENSMUST00000085375
AA Change: D230G
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000082490 Gene: ENSMUSG00000003423 AA Change: D230G
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: ENSMUST00000107811
AA Change: D230G
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103441 Gene: ENSMUSG00000003423 AA Change: D230G
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: ENSMUST00000107813
AA Change: D230G
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103443 Gene: ENSMUSG00000003423 AA Change: D230G
Domain | Start | End | E-Value | Type |
Pfam:PIH1
|
22 |
209 |
7.6e-39 |
PFAM |
Pfam:PIH1
|
205 |
285 |
1.3e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209400
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209634
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209847
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210139
AA Change: D230G
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209954
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211414
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211336
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211709
|
Meta Mutation Damage Score |
0.1927 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.2%
|
Validation Efficiency |
96% (45/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
G |
T |
7: 28,612,855 (GRCm39) |
A116E |
probably damaging |
Het |
Adamtsl3 |
A |
G |
7: 82,225,204 (GRCm39) |
I338V |
probably damaging |
Het |
Akap13 |
T |
G |
7: 75,375,128 (GRCm39) |
V1920G |
probably damaging |
Het |
Atp6v0d2 |
C |
T |
4: 19,880,055 (GRCm39) |
V281I |
probably benign |
Het |
AW209491 |
T |
G |
13: 14,811,607 (GRCm39) |
S153R |
probably damaging |
Het |
Brd7 |
A |
T |
8: 89,069,395 (GRCm39) |
Y433* |
probably null |
Het |
Bub1b |
A |
G |
2: 118,440,457 (GRCm39) |
H187R |
probably damaging |
Het |
Clstn2 |
T |
A |
9: 97,452,681 (GRCm39) |
Q242L |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Comt |
T |
C |
16: 18,226,711 (GRCm39) |
Y225C |
probably damaging |
Het |
Ctbs |
T |
A |
3: 146,160,862 (GRCm39) |
L143Q |
probably damaging |
Het |
Ctsw |
T |
C |
19: 5,515,489 (GRCm39) |
|
probably benign |
Het |
Dhx16 |
T |
C |
17: 36,194,194 (GRCm39) |
I435T |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,026,469 (GRCm39) |
F1859S |
probably damaging |
Het |
Glud1 |
A |
G |
14: 34,051,351 (GRCm39) |
|
probably benign |
Het |
Gm8220 |
A |
G |
14: 44,524,248 (GRCm39) |
H71R |
probably damaging |
Het |
Gnb1l |
A |
G |
16: 18,371,223 (GRCm39) |
E238G |
probably benign |
Het |
H2-T23 |
T |
C |
17: 36,341,475 (GRCm39) |
H332R |
probably benign |
Het |
Itga5 |
T |
A |
15: 103,259,196 (GRCm39) |
T744S |
probably benign |
Het |
Larp1 |
A |
G |
11: 57,938,576 (GRCm39) |
E453G |
probably benign |
Het |
Lrrk2 |
C |
A |
15: 91,640,165 (GRCm39) |
P1570Q |
probably benign |
Het |
Lrsam1 |
C |
T |
2: 32,843,455 (GRCm39) |
R150Q |
possibly damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Msln |
T |
C |
17: 25,969,770 (GRCm39) |
Y320C |
probably damaging |
Het |
Mtbp |
T |
C |
15: 55,426,486 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
G |
7: 141,404,183 (GRCm39) |
|
probably null |
Het |
Mup21 |
A |
G |
4: 62,068,547 (GRCm39) |
S40P |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,177,090 (GRCm39) |
V414A |
probably damaging |
Het |
P2rx5 |
T |
C |
11: 73,056,400 (GRCm39) |
I108T |
probably damaging |
Het |
Paqr9 |
T |
C |
9: 95,442,793 (GRCm39) |
L261P |
probably damaging |
Het |
Pde5a |
A |
G |
3: 122,522,980 (GRCm39) |
D29G |
probably benign |
Het |
Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
Pik3r1 |
G |
T |
13: 101,822,772 (GRCm39) |
D643E |
probably benign |
Het |
Rnf207 |
A |
G |
4: 152,396,521 (GRCm39) |
|
probably benign |
Het |
Septin9 |
T |
C |
11: 117,247,151 (GRCm39) |
|
probably benign |
Het |
Serinc1 |
A |
T |
10: 57,401,479 (GRCm39) |
S105T |
probably benign |
Het |
Slc8a1 |
A |
G |
17: 81,745,177 (GRCm39) |
S676P |
probably benign |
Het |
Srrm4 |
C |
T |
5: 116,582,944 (GRCm39) |
|
probably null |
Het |
Tcn2 |
T |
A |
11: 3,869,349 (GRCm39) |
D391V |
probably benign |
Het |
Tmem131 |
T |
C |
1: 36,855,303 (GRCm39) |
T808A |
probably damaging |
Het |
Ubqln3 |
G |
T |
7: 103,791,275 (GRCm39) |
Q272K |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,139,703 (GRCm39) |
|
probably benign |
Het |
Xpo6 |
G |
A |
7: 125,728,715 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
A |
T |
7: 6,309,091 (GRCm39) |
K586N |
possibly 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 |
|
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'- GGCAAATCCCTGCATCTGAAGGAAG -3'
(R):5'- ACATCCCAGCACTTGTGGAAGC -3'
Sequencing Primer
(F):5'- ACAGTGATGCAGTTCCAGTC -3'
(R):5'- CACTTGTGGAAGCCCCTC -3'
|
Posted On |
2013-10-16 |