Incidental Mutation 'IGL01819:Pih1d2'
ID |
154474 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pih1d2
|
Ensembl Gene |
ENSMUSG00000000167 |
Gene Name |
PIH1 domain containing 2 |
Synonyms |
2700059L22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL01819
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
50528621-50536300 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 50533177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 268
(S268R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000171]
[ENSMUST00000125606]
[ENSMUST00000131351]
[ENSMUST00000132187]
[ENSMUST00000141366]
[ENSMUST00000151197]
[ENSMUST00000147671]
[ENSMUST00000145139]
[ENSMUST00000171462]
[ENSMUST00000155435]
|
AlphaFold |
Q8CHR9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000171
AA Change: S268R
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000000171 Gene: ENSMUSG00000000167 AA Change: S268R
Domain | Start | End | E-Value | Type |
Pfam:PIH1
|
19 |
314 |
4.1e-30 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124029
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125606
|
SMART Domains |
Protein: ENSMUSP00000121100 Gene: ENSMUSG00000000167
Domain | Start | End | E-Value | Type |
Pfam:PIH1
|
19 |
140 |
2.1e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131351
|
SMART Domains |
Protein: ENSMUSP00000123319 Gene: ENSMUSG00000059820
Domain | Start | End | E-Value | Type |
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
low complexity region
|
198 |
216 |
N/A |
INTRINSIC |
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132187
|
SMART Domains |
Protein: ENSMUSP00000118064 Gene: ENSMUSG00000000167
Domain | Start | End | E-Value | Type |
Pfam:PIH1
|
19 |
92 |
1.7e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141366
|
SMART Domains |
Protein: ENSMUSP00000122789 Gene: ENSMUSG00000000167
Domain | Start | End | E-Value | Type |
Pfam:PIH1
|
35 |
198 |
2.6e-47 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155773
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151197
|
SMART Domains |
Protein: ENSMUSP00000119253 Gene: ENSMUSG00000000167
Domain | Start | End | E-Value | Type |
Pfam:PIH1
|
19 |
235 |
1.7e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147671
|
SMART Domains |
Protein: ENSMUSP00000117265 Gene: ENSMUSG00000059820
Domain | Start | End | E-Value | Type |
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145139
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171462
|
SMART Domains |
Protein: ENSMUSP00000133259 Gene: ENSMUSG00000059820
Domain | Start | End | E-Value | Type |
Pfam:NKAP
|
86 |
163 |
5.2e-26 |
PFAM |
low complexity region
|
198 |
216 |
N/A |
INTRINSIC |
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155435
|
SMART Domains |
Protein: ENSMUSP00000121198 Gene: ENSMUSG00000059820
Domain | Start | End | E-Value | Type |
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
low complexity region
|
198 |
214 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora2b |
A |
G |
11: 62,156,010 (GRCm39) |
N153S |
possibly damaging |
Het |
Afm |
C |
T |
5: 90,672,765 (GRCm39) |
T200I |
probably benign |
Het |
Cyp2c67 |
T |
C |
19: 39,604,165 (GRCm39) |
D397G |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,998,952 (GRCm39) |
V1032A |
probably benign |
Het |
Elovl7 |
T |
G |
13: 108,410,854 (GRCm39) |
V143G |
probably damaging |
Het |
Fhl4 |
T |
C |
10: 84,934,734 (GRCm39) |
K16E |
probably damaging |
Het |
Golga1 |
C |
T |
2: 38,924,161 (GRCm39) |
C383Y |
probably benign |
Het |
Gucy1a2 |
C |
T |
9: 3,865,409 (GRCm39) |
R628* |
probably null |
Het |
Hectd4 |
A |
G |
5: 121,466,481 (GRCm39) |
D2432G |
possibly damaging |
Het |
Iqcf5 |
T |
A |
9: 106,393,189 (GRCm39) |
*149R |
probably null |
Het |
Kcnab1 |
T |
A |
3: 65,226,875 (GRCm39) |
Y185N |
probably damaging |
Het |
Lars1 |
G |
T |
18: 42,335,615 (GRCm39) |
T1167K |
probably benign |
Het |
Mib2 |
A |
T |
4: 155,739,715 (GRCm39) |
|
probably null |
Het |
Mrps2 |
T |
C |
2: 28,358,348 (GRCm39) |
V46A |
probably benign |
Het |
Myo18b |
T |
C |
5: 113,025,916 (GRCm39) |
T45A |
unknown |
Het |
Myo1e |
C |
T |
9: 70,250,322 (GRCm39) |
|
probably benign |
Het |
Or10ag59 |
A |
G |
2: 87,405,823 (GRCm39) |
I132V |
probably damaging |
Het |
Or4k39 |
T |
A |
2: 111,239,078 (GRCm39) |
V106E |
probably damaging |
Het |
Osbp2 |
A |
T |
11: 3,667,127 (GRCm39) |
I8N |
probably damaging |
Het |
Pcdhb22 |
A |
T |
18: 37,652,974 (GRCm39) |
N481Y |
probably damaging |
Het |
Pde3a |
T |
C |
6: 141,433,263 (GRCm39) |
W765R |
probably damaging |
Het |
Phf11c |
T |
C |
14: 59,630,586 (GRCm39) |
T40A |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,724,913 (GRCm39) |
N2333D |
probably damaging |
Het |
Prex1 |
A |
G |
2: 166,463,165 (GRCm39) |
I62T |
probably damaging |
Het |
Ptcd2 |
T |
C |
13: 99,463,219 (GRCm39) |
N245S |
possibly damaging |
Het |
Ripor3 |
C |
A |
2: 167,822,763 (GRCm39) |
V933F |
probably damaging |
Het |
Sanbr |
A |
G |
11: 23,534,561 (GRCm39) |
S105P |
probably benign |
Het |
Sphk2 |
A |
G |
7: 45,360,480 (GRCm39) |
|
probably null |
Het |
Tfcp2 |
T |
G |
15: 100,402,320 (GRCm39) |
E492D |
probably benign |
Het |
Ttn |
C |
T |
2: 76,629,106 (GRCm39) |
V14411I |
possibly damaging |
Het |
Utp20 |
T |
C |
10: 88,628,549 (GRCm39) |
Q915R |
probably damaging |
Het |
Vmn2r45 |
C |
A |
7: 8,488,556 (GRCm39) |
S158I |
probably benign |
Het |
|
Other mutations in Pih1d2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
FR4449:Pih1d2
|
UTSW |
9 |
50,532,927 (GRCm39) |
frame shift |
probably null |
|
R0390:Pih1d2
|
UTSW |
9 |
50,532,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R0443:Pih1d2
|
UTSW |
9 |
50,532,403 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1570:Pih1d2
|
UTSW |
9 |
50,532,479 (GRCm39) |
missense |
probably benign |
0.06 |
R1874:Pih1d2
|
UTSW |
9 |
50,532,245 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2207:Pih1d2
|
UTSW |
9 |
50,532,379 (GRCm39) |
missense |
probably benign |
0.17 |
R4667:Pih1d2
|
UTSW |
9 |
50,532,252 (GRCm39) |
nonsense |
probably null |
|
R5806:Pih1d2
|
UTSW |
9 |
50,529,750 (GRCm39) |
unclassified |
probably benign |
|
R5811:Pih1d2
|
UTSW |
9 |
50,532,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R5949:Pih1d2
|
UTSW |
9 |
50,536,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R6156:Pih1d2
|
UTSW |
9 |
50,532,452 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6416:Pih1d2
|
UTSW |
9 |
50,529,909 (GRCm39) |
missense |
probably benign |
0.00 |
R6711:Pih1d2
|
UTSW |
9 |
50,529,310 (GRCm39) |
start codon destroyed |
probably null |
|
R7052:Pih1d2
|
UTSW |
9 |
50,533,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R7557:Pih1d2
|
UTSW |
9 |
50,536,216 (GRCm39) |
missense |
probably damaging |
0.99 |
R7661:Pih1d2
|
UTSW |
9 |
50,529,558 (GRCm39) |
critical splice donor site |
probably null |
|
R7770:Pih1d2
|
UTSW |
9 |
50,533,101 (GRCm39) |
missense |
not run |
|
R8295:Pih1d2
|
UTSW |
9 |
50,532,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R8978:Pih1d2
|
UTSW |
9 |
50,536,232 (GRCm39) |
missense |
probably benign |
0.43 |
R9147:Pih1d2
|
UTSW |
9 |
50,532,321 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9401:Pih1d2
|
UTSW |
9 |
50,529,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |