Incidental Mutation 'IGL01649:Pibf1'
| ID |
102779 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pibf1
|
| Ensembl Gene |
ENSMUSG00000022064 |
| Gene Name |
progesterone immunomodulatory binding factor 1 |
| Synonyms |
4930513H15Rik, 4933438D16Rik, 1700017E21Rik, D14Ertd581e, 4933439E17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01649
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
99336860-99491929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99425199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 562
(Y562F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022650]
|
| AlphaFold |
E9Q6K3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022650
AA Change: Y562F
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: Y562F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
58 |
165 |
N/A |
INTRINSIC |
|
coiled coil region
|
200 |
364 |
N/A |
INTRINSIC |
|
coiled coil region
|
396 |
444 |
N/A |
INTRINSIC |
|
coiled coil region
|
474 |
553 |
N/A |
INTRINSIC |
|
coiled coil region
|
586 |
679 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
| 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 |
|---|
| 4931429L15Rik |
A |
G |
9: 46,217,116 (GRCm39) |
S220P |
probably benign |
Het |
| Adam18 |
T |
C |
8: 25,104,912 (GRCm39) |
N634S |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,491,211 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,911,541 (GRCm39) |
S1518G |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,617,226 (GRCm39) |
V341A |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,188,759 (GRCm39) |
V1721A |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,809,553 (GRCm39) |
I274F |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,379,139 (GRCm39) |
L622Q |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,176,821 (GRCm39) |
D1960G |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,015 (GRCm39) |
T503A |
possibly damaging |
Het |
| Glb1 |
A |
G |
9: 114,253,016 (GRCm39) |
Y73C |
probably damaging |
Het |
| Gm9396 |
G |
T |
3: 129,862,268 (GRCm39) |
|
noncoding transcript |
Het |
| Gml2 |
G |
T |
15: 74,696,070 (GRCm39) |
E155* |
probably null |
Het |
| Ikzf4 |
G |
A |
10: 128,471,689 (GRCm39) |
R323C |
probably damaging |
Het |
| Kiz |
A |
G |
2: 146,731,229 (GRCm39) |
T240A |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,477,351 (GRCm39) |
K480E |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,167,698 (GRCm39) |
H105R |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,221,870 (GRCm39) |
L1464P |
probably damaging |
Het |
| Mrgpra9 |
A |
C |
7: 46,884,900 (GRCm39) |
L256V |
probably benign |
Het |
| Mrpl40 |
T |
C |
16: 18,691,329 (GRCm39) |
Q127R |
probably benign |
Het |
| Myom2 |
G |
T |
8: 15,163,755 (GRCm39) |
R1003L |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,225,477 (GRCm39) |
T1806A |
probably damaging |
Het |
| Or10x4 |
T |
C |
1: 174,218,974 (GRCm39) |
L113P |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,044,921 (GRCm39) |
|
probably benign |
Het |
| Ppm1n |
A |
T |
7: 19,012,122 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
A |
G |
7: 18,550,727 (GRCm39) |
V376A |
possibly damaging |
Het |
| Septin8 |
T |
A |
11: 53,425,855 (GRCm39) |
F143I |
possibly damaging |
Het |
| Sestd1 |
A |
G |
2: 77,029,389 (GRCm39) |
Y330H |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,752,193 (GRCm39) |
|
probably benign |
Het |
| Stpg2 |
C |
A |
3: 139,125,623 (GRCm39) |
P472Q |
probably damaging |
Het |
| Thbs1 |
A |
G |
2: 117,945,463 (GRCm39) |
K314R |
probably benign |
Het |
| Vav3 |
T |
C |
3: 109,470,078 (GRCm39) |
Y508H |
probably benign |
Het |
|
| Other mutations in Pibf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Pibf1
|
APN |
14 |
99,416,885 (GRCm39) |
nonsense |
probably null |
|
|
IGL01817:Pibf1
|
APN |
14 |
99,423,908 (GRCm39) |
splice site |
probably benign |
|
|
IGL02322:Pibf1
|
APN |
14 |
99,448,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03180:Pibf1
|
APN |
14 |
99,370,780 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03269:Pibf1
|
APN |
14 |
99,425,171 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03354:Pibf1
|
APN |
14 |
99,388,174 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0053:Pibf1
|
UTSW |
14 |
99,377,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0969:Pibf1
|
UTSW |
14 |
99,433,822 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0981:Pibf1
|
UTSW |
14 |
99,388,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1110:Pibf1
|
UTSW |
14 |
99,350,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1205:Pibf1
|
UTSW |
14 |
99,338,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1356:Pibf1
|
UTSW |
14 |
99,374,632 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1432:Pibf1
|
UTSW |
14 |
99,350,425 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1622:Pibf1
|
UTSW |
14 |
99,423,917 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1912:Pibf1
|
UTSW |
14 |
99,425,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2393:Pibf1
|
UTSW |
14 |
99,480,368 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3847:Pibf1
|
UTSW |
14 |
99,374,557 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4028:Pibf1
|
UTSW |
14 |
99,416,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4673:Pibf1
|
UTSW |
14 |
99,370,787 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4857:Pibf1
|
UTSW |
14 |
99,423,937 (GRCm39) |
nonsense |
probably null |
|
|
R4874:Pibf1
|
UTSW |
14 |
99,377,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Pibf1
|
UTSW |
14 |
99,388,103 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5330:Pibf1
|
UTSW |
14 |
99,378,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5543:Pibf1
|
UTSW |
14 |
99,350,428 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5582:Pibf1
|
UTSW |
14 |
99,374,566 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5922:Pibf1
|
UTSW |
14 |
99,374,524 (GRCm39) |
missense |
probably benign |
|
|
R6088:Pibf1
|
UTSW |
14 |
99,416,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6169:Pibf1
|
UTSW |
14 |
99,350,443 (GRCm39) |
missense |
probably null |
0.96 |
|
R6226:Pibf1
|
UTSW |
14 |
99,338,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6232:Pibf1
|
UTSW |
14 |
99,424,014 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6339:Pibf1
|
UTSW |
14 |
99,344,834 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6450:Pibf1
|
UTSW |
14 |
99,374,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6828:Pibf1
|
UTSW |
14 |
99,423,987 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7185:Pibf1
|
UTSW |
14 |
99,344,752 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7201:Pibf1
|
UTSW |
14 |
99,433,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7984:Pibf1
|
UTSW |
14 |
99,459,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8125:Pibf1
|
UTSW |
14 |
99,416,803 (GRCm39) |
nonsense |
probably null |
|
|
R8157:Pibf1
|
UTSW |
14 |
99,433,831 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8231:Pibf1
|
UTSW |
14 |
99,423,997 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9061:Pibf1
|
UTSW |
14 |
99,424,069 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9285:Pibf1
|
UTSW |
14 |
99,480,345 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9387:Pibf1
|
UTSW |
14 |
99,448,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9509:Pibf1
|
UTSW |
14 |
99,338,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9564:Pibf1
|
UTSW |
14 |
99,374,610 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2014-01-21 |
Incidental Mutation