Incidental Mutation 'IGL00972:Pibf1'
ID |
28987 |
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 # |
IGL00972
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
99336860-99491929 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 99416885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 486
(L486*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022650]
|
AlphaFold |
E9Q6K3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022650
AA Change: L486*
|
SMART Domains |
Protein: ENSMUSP00000022650 Gene: ENSMUSG00000022064 AA Change: L486*
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: ENSMUST00000228354
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
A |
G |
4: 124,504,484 (GRCm39) |
F23L |
probably damaging |
Het |
Abcf3 |
A |
T |
16: 20,370,434 (GRCm39) |
M320L |
probably damaging |
Het |
Adam4 |
A |
T |
12: 81,467,423 (GRCm39) |
H399Q |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,631,660 (GRCm39) |
K140E |
probably damaging |
Het |
Atg2a |
G |
A |
19: 6,304,629 (GRCm39) |
C1162Y |
probably damaging |
Het |
Atp2b1 |
T |
A |
10: 98,850,906 (GRCm39) |
I34N |
probably damaging |
Het |
Bin1 |
A |
T |
18: 32,557,887 (GRCm39) |
E260V |
probably benign |
Het |
Birc2 |
G |
A |
9: 7,833,716 (GRCm39) |
S255L |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,902,249 (GRCm39) |
Q502R |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,563,262 (GRCm39) |
V1584A |
probably benign |
Het |
Commd3 |
A |
T |
2: 18,679,476 (GRCm39) |
R120S |
probably benign |
Het |
Cyp39a1 |
A |
T |
17: 44,012,434 (GRCm39) |
I304L |
probably benign |
Het |
Cyp3a44 |
A |
T |
5: 145,716,534 (GRCm39) |
M352K |
possibly damaging |
Het |
Dna2 |
T |
C |
10: 62,786,602 (GRCm39) |
Y117H |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,060,140 (GRCm39) |
|
probably benign |
Het |
Dsc1 |
G |
A |
18: 20,221,420 (GRCm39) |
P685L |
probably benign |
Het |
Efna5 |
T |
A |
17: 62,920,374 (GRCm39) |
I168L |
possibly damaging |
Het |
Ephx1 |
A |
G |
1: 180,827,365 (GRCm39) |
F96S |
probably benign |
Het |
Fig4 |
A |
T |
10: 41,127,784 (GRCm39) |
I560K |
probably damaging |
Het |
Fktn |
T |
A |
4: 53,734,992 (GRCm39) |
I210N |
probably damaging |
Het |
Fmnl1 |
T |
C |
11: 103,071,781 (GRCm39) |
V96A |
probably damaging |
Het |
Gabra1 |
T |
G |
11: 42,024,453 (GRCm39) |
E407D |
probably benign |
Het |
Gm5277 |
A |
T |
3: 78,799,593 (GRCm39) |
|
noncoding transcript |
Het |
H2-M10.5 |
A |
T |
17: 37,084,227 (GRCm39) |
E63V |
possibly damaging |
Het |
Icam5 |
T |
A |
9: 20,945,993 (GRCm39) |
V275E |
probably damaging |
Het |
Kel |
G |
A |
6: 41,665,000 (GRCm39) |
A588V |
possibly damaging |
Het |
Klra5 |
T |
A |
6: 129,883,568 (GRCm39) |
E96D |
probably damaging |
Het |
Limd1 |
C |
T |
9: 123,309,141 (GRCm39) |
T280I |
probably benign |
Het |
Mul1 |
C |
A |
4: 138,165,628 (GRCm39) |
S95* |
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,156,473 (GRCm39) |
S733P |
probably benign |
Het |
Ntn1 |
T |
A |
11: 68,104,098 (GRCm39) |
I517F |
possibly damaging |
Het |
Ntrk3 |
T |
A |
7: 77,897,070 (GRCm39) |
M656L |
possibly damaging |
Het |
Oacyl |
T |
G |
18: 65,858,572 (GRCm39) |
L226R |
possibly damaging |
Het |
Or1ad6 |
A |
T |
11: 50,859,946 (GRCm39) |
M34L |
probably benign |
Het |
Or4f61 |
A |
T |
2: 111,922,439 (GRCm39) |
N202K |
probably damaging |
Het |
Or5ac17 |
A |
G |
16: 59,036,829 (GRCm39) |
I49T |
probably damaging |
Het |
Pla2g4c |
A |
G |
7: 13,074,583 (GRCm39) |
Y253C |
probably benign |
Het |
Rims3 |
C |
A |
4: 120,748,583 (GRCm39) |
A268E |
probably benign |
Het |
Rpl12 |
T |
C |
2: 32,853,759 (GRCm39) |
I129T |
probably benign |
Het |
Rsl1 |
A |
T |
13: 67,329,862 (GRCm39) |
K103N |
probably benign |
Het |
Scn11a |
A |
T |
9: 119,623,004 (GRCm39) |
W612R |
probably benign |
Het |
Sdk2 |
G |
A |
11: 113,745,210 (GRCm39) |
T695M |
possibly damaging |
Het |
Slc17a1 |
T |
A |
13: 24,062,437 (GRCm39) |
|
probably benign |
Het |
Stam |
A |
T |
2: 14,120,779 (GRCm39) |
|
probably benign |
Het |
Tacr3 |
T |
G |
3: 134,638,116 (GRCm39) |
N424K |
probably benign |
Het |
Tas1r2 |
C |
T |
4: 139,387,347 (GRCm39) |
R240W |
probably damaging |
Het |
Tle1 |
T |
C |
4: 72,040,637 (GRCm39) |
R648G |
probably damaging |
Het |
Tmem92 |
T |
C |
11: 94,673,254 (GRCm39) |
D3G |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,860,596 (GRCm39) |
I250V |
probably null |
Het |
Tspan8 |
C |
T |
10: 115,680,044 (GRCm39) |
|
probably benign |
Het |
Vmn1r128 |
A |
G |
7: 21,084,001 (GRCm39) |
E235G |
probably benign |
Het |
Vmn1r220 |
A |
G |
13: 23,368,558 (GRCm39) |
L46P |
probably damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,996,903 (GRCm39) |
E122G |
probably benign |
Het |
Zfp27 |
A |
T |
7: 29,594,383 (GRCm39) |
N527K |
probably damaging |
Het |
|
Other mutations in Pibf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-04-17 |