Incidental Mutation 'R1205:Pibf1'
| ID |
100443 |
| 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 |
039275-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1205 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
99336860-99491929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99338639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 52
(E52K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022650]
[ENSMUST00000042471]
[ENSMUST00000227022]
[ENSMUST00000228643]
|
| AlphaFold |
E9Q6K3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022650
AA Change: E52K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: E52K
| 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 |
probably benign
Transcript: ENSMUST00000042471
|
| SMART Domains |
Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
|
PINc
|
64 |
182 |
2.8e-24 |
SMART |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
RNB
|
467 |
797 |
5.56e-141 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228643
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,310,083 (GRCm39) |
N774I |
probably damaging |
Het |
| Bpifc |
T |
A |
10: 85,817,168 (GRCm39) |
D230V |
probably damaging |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,158,406 (GRCm39) |
Q630* |
probably null |
Het |
| Dzip3 |
C |
T |
16: 48,772,044 (GRCm39) |
G542R |
probably damaging |
Het |
| Epha3 |
ATGAACTGCT |
AT |
16: 63,418,611 (GRCm39) |
|
probably null |
Het |
| Fnip1 |
G |
T |
11: 54,393,132 (GRCm39) |
V523L |
possibly damaging |
Het |
| Hc |
T |
A |
2: 34,893,536 (GRCm39) |
D1225V |
possibly damaging |
Het |
| Hnrnpu |
C |
T |
1: 178,159,734 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,443,136 (GRCm39) |
V125I |
probably benign |
Het |
| Kcnip2 |
T |
A |
19: 45,783,422 (GRCm39) |
Q93L |
probably null |
Het |
| Kif27 |
A |
T |
13: 58,492,019 (GRCm39) |
H373Q |
probably benign |
Het |
| Kl |
T |
C |
5: 150,904,153 (GRCm39) |
S302P |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,854,787 (GRCm39) |
V2386I |
probably benign |
Het |
| Map4k4 |
G |
A |
1: 40,043,004 (GRCm39) |
A128T |
probably damaging |
Het |
| Marchf6 |
A |
C |
15: 31,469,819 (GRCm39) |
M717R |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,354,908 (GRCm39) |
Y955H |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,127,395 (GRCm39) |
S636P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,112,996 (GRCm39) |
D4266V |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,091,646 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
G |
A |
2: 36,624,767 (GRCm39) |
V145I |
probably benign |
Het |
| Or4c107 |
A |
T |
2: 88,788,932 (GRCm39) |
I41L |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,899 (GRCm39) |
I38V |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,123,501 (GRCm39) |
S890P |
probably benign |
Het |
| Pcnx1 |
G |
T |
12: 82,003,017 (GRCm39) |
D1052Y |
probably damaging |
Het |
| Siglec1 |
T |
G |
2: 130,922,384 (GRCm39) |
S564R |
possibly damaging |
Het |
| Sin3a |
T |
A |
9: 57,026,459 (GRCm39) |
V1125E |
probably damaging |
Het |
| Slco4c1 |
G |
T |
1: 96,795,613 (GRCm39) |
D148E |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,605,171 (GRCm39) |
L127Q |
probably damaging |
Het |
| Syne4 |
C |
A |
7: 30,014,761 (GRCm39) |
T68N |
probably damaging |
Het |
| Tas2r134 |
A |
G |
2: 51,517,998 (GRCm39) |
Y159C |
probably benign |
Het |
| Tasor |
A |
T |
14: 27,183,275 (GRCm39) |
D578V |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,668,079 (GRCm39) |
L867S |
probably benign |
Het |
| Tmem132a |
C |
A |
19: 10,836,448 (GRCm39) |
R694L |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,433,635 (GRCm39) |
P2192L |
probably benign |
Het |
| Ttc34 |
T |
G |
4: 154,946,671 (GRCm39) |
V857G |
probably benign |
Het |
| Ugt1a7c |
A |
T |
1: 88,023,678 (GRCm39) |
H279L |
probably benign |
Het |
| Vmn1r32 |
G |
A |
6: 66,530,539 (GRCm39) |
T79I |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,617,905 (GRCm39) |
V2960D |
probably damaging |
Het |
| Wee2 |
G |
T |
6: 40,420,875 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCGCAAAATTGCCAAGGAACC -3'
(R):5'- TTCCTATCAGACCAGTCAGTCCCAG -3'
Sequencing Primer
(F):5'- AATTGCCAAGGAACCAAAAAAAG -3'
(R):5'- gtttgtttgtttgttttgttttttcg -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation