Incidental Mutation 'R1356:Pibf1'
| ID |
156333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pibf1
|
| Ensembl Gene |
ENSMUSG00000022064 |
| Gene Name |
progesterone immunomodulatory binding factor 1 |
| Synonyms |
4930513H15Rik, 4933438D16Rik, 1700017E21Rik, D14Ertd581e, 4933439E17Rik |
| MMRRC Submission |
039421-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1356 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
99336860-99491929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99374632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 357
(E357G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022650]
|
| AlphaFold |
E9Q6K3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022650
AA Change: E357G
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: E357G
| 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: ENSMUST00000227969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
| Meta Mutation Damage Score |
0.1199 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,342,112 (GRCm39) |
|
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,158,611 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
C |
A |
19: 29,350,970 (GRCm39) |
T22K |
possibly damaging |
Het |
| Cfap45 |
G |
A |
1: 172,355,430 (GRCm39) |
R26Q |
possibly damaging |
Het |
| Dvl3 |
AGCGGCGGCGGCGG |
AGCGGCGGCGG |
16: 20,343,055 (GRCm39) |
|
probably benign |
Het |
| E2f8 |
A |
G |
7: 48,530,018 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
A |
G |
16: 12,943,146 (GRCm39) |
H255R |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,960,928 (GRCm39) |
D234N |
probably damaging |
Het |
| Foxp1 |
A |
T |
6: 98,993,637 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,820,089 (GRCm39) |
V5274D |
probably benign |
Het |
| Gm21718 |
A |
G |
14: 51,554,104 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr85 |
G |
A |
6: 13,836,146 (GRCm39) |
P253S |
probably benign |
Het |
| Grm7 |
A |
T |
6: 111,335,985 (GRCm39) |
I799F |
probably damaging |
Het |
| Inpp1 |
A |
G |
1: 52,836,215 (GRCm39) |
F84L |
possibly damaging |
Het |
| Kprp |
T |
A |
3: 92,732,909 (GRCm39) |
E47V |
probably damaging |
Het |
| Krt9 |
CTGC |
CTGCNNNNNNNNNNNNNNNNNNNNNTGC |
11: 100,079,640 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,633,634 (GRCm39) |
|
probably benign |
Het |
| Lurap1l |
C |
G |
4: 80,829,767 (GRCm39) |
A59G |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,290 (GRCm39) |
T353S |
probably benign |
Het |
| Mctp2 |
A |
G |
7: 71,814,471 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,700,334 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
T |
A |
19: 12,438,689 (GRCm39) |
V49D |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,843,629 (GRCm39) |
P859S |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Parn |
A |
T |
16: 13,468,538 (GRCm39) |
Y214* |
probably null |
Het |
| Prex2 |
C |
T |
1: 11,150,316 (GRCm39) |
Q163* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,189,681 (GRCm39) |
S294T |
probably benign |
Het |
| Slc46a1 |
A |
G |
11: 78,361,550 (GRCm39) |
N399D |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,720 (GRCm39) |
F213S |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,914,446 (GRCm39) |
E1967G |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,218 (GRCm39) |
*866Q |
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTGGTTGGGTACAATGCACATAG -3'
(R):5'- GTTGTTACTGGAAGACCGCAGTATCTC -3'
Sequencing Primer
(F):5'- GAGAAGTAGCACTCACTCTGAACTG -3'
(R):5'- GAAGACCGCAGTATCTCTAAGAAATC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation