Incidental Mutation 'IGL02322:Pibf1'
ID |
288270 |
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 # |
IGL02322
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
99336860-99491929 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99448419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 626
(Y626C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022650]
|
AlphaFold |
E9Q6K3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022650
AA Change: Y626C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022650 Gene: ENSMUSG00000022064 AA Change: Y626C
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acd |
G |
A |
8: 106,425,268 (GRCm39) |
A355V |
probably benign |
Het |
Adam9 |
A |
G |
8: 25,445,990 (GRCm39) |
V801A |
probably damaging |
Het |
Ankrd36 |
T |
A |
11: 5,564,619 (GRCm39) |
V479D |
possibly damaging |
Het |
Arid5a |
C |
T |
1: 36,358,497 (GRCm39) |
P423L |
probably benign |
Het |
Atp13a4 |
T |
C |
16: 29,258,920 (GRCm39) |
I650V |
probably benign |
Het |
B4gat1 |
C |
A |
19: 5,089,155 (GRCm39) |
P51T |
possibly damaging |
Het |
Caskin2 |
G |
A |
11: 115,695,303 (GRCm39) |
T310M |
probably damaging |
Het |
Ccdc121rt1 |
A |
G |
1: 181,337,999 (GRCm39) |
S318P |
possibly damaging |
Het |
Ccdc159 |
G |
T |
9: 21,840,669 (GRCm39) |
V79L |
possibly damaging |
Het |
Ccser2 |
A |
T |
14: 36,631,086 (GRCm39) |
V18E |
probably damaging |
Het |
Cct8l1 |
T |
C |
5: 25,722,581 (GRCm39) |
V432A |
probably benign |
Het |
Cdh11 |
A |
T |
8: 103,374,151 (GRCm39) |
F529Y |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,832,248 (GRCm39) |
E1370G |
probably damaging |
Het |
Col22a1 |
C |
A |
15: 71,694,502 (GRCm39) |
G717C |
unknown |
Het |
Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
Ctrb1 |
A |
C |
8: 112,415,951 (GRCm39) |
|
probably null |
Het |
Cyp2b19 |
T |
C |
7: 26,461,803 (GRCm39) |
S208P |
possibly damaging |
Het |
Dnmt3l |
T |
A |
10: 77,888,572 (GRCm39) |
I158N |
possibly damaging |
Het |
Evi5l |
T |
C |
8: 4,237,236 (GRCm39) |
|
probably benign |
Het |
Fkbpl |
A |
G |
17: 34,864,298 (GRCm39) |
E22G |
probably benign |
Het |
Flnb |
T |
A |
14: 7,894,676 (GRCm38) |
F825I |
probably damaging |
Het |
Gjb6 |
A |
T |
14: 57,361,732 (GRCm39) |
N176K |
probably damaging |
Het |
Gpc2 |
G |
T |
5: 138,274,499 (GRCm39) |
|
probably null |
Het |
H1f7 |
T |
C |
15: 98,154,757 (GRCm39) |
T131A |
possibly damaging |
Het |
Il20 |
C |
T |
1: 130,837,313 (GRCm39) |
C104Y |
probably damaging |
Het |
Mgat5 |
A |
G |
1: 127,310,722 (GRCm39) |
N212S |
probably benign |
Het |
Olfm5 |
C |
T |
7: 103,803,608 (GRCm39) |
G210D |
probably damaging |
Het |
Olig2 |
T |
C |
16: 91,023,546 (GRCm39) |
S87P |
probably benign |
Het |
Or2y15 |
A |
G |
11: 49,350,784 (GRCm39) |
S93G |
probably benign |
Het |
Or4c121 |
T |
A |
2: 89,023,806 (GRCm39) |
T191S |
probably damaging |
Het |
Osbpl7 |
G |
T |
11: 96,946,950 (GRCm39) |
A418S |
probably benign |
Het |
Otog |
G |
T |
7: 45,950,881 (GRCm39) |
R2551L |
probably benign |
Het |
Oxt |
A |
T |
2: 130,418,200 (GRCm39) |
N24I |
probably damaging |
Het |
Plekhh2 |
A |
T |
17: 84,896,894 (GRCm39) |
K934* |
probably null |
Het |
Pramel14 |
G |
A |
4: 143,718,591 (GRCm39) |
|
probably benign |
Het |
Prdm9 |
A |
T |
17: 15,783,110 (GRCm39) |
N57K |
probably damaging |
Het |
Rapsn |
A |
G |
2: 90,872,251 (GRCm39) |
D195G |
possibly damaging |
Het |
Rimbp3 |
T |
G |
16: 17,029,479 (GRCm39) |
F968V |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,387,499 (GRCm39) |
N1047S |
possibly damaging |
Het |
Slc35g1 |
C |
T |
19: 38,389,013 (GRCm39) |
R107* |
probably null |
Het |
Ssh2 |
A |
C |
11: 77,307,239 (GRCm39) |
|
probably null |
Het |
Tiparp |
C |
A |
3: 65,439,441 (GRCm39) |
C70* |
probably null |
Het |
Vmn2r110 |
A |
G |
17: 20,794,197 (GRCm39) |
I824T |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,570,687 (GRCm39) |
S402P |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,845,183 (GRCm39) |
E2089G |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,339,082 (GRCm39) |
H441L |
probably benign |
Het |
Zdhhc3 |
C |
T |
9: 122,929,542 (GRCm39) |
G31D |
probably benign |
Het |
Zfp330 |
A |
G |
8: 83,497,450 (GRCm39) |
L64S |
probably damaging |
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 |
|
IGL01649:Pibf1
|
APN |
14 |
99,425,199 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01817:Pibf1
|
APN |
14 |
99,423,908 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |