Incidental Mutation 'R6828:Pibf1'
| ID |
534278 |
| 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 |
045020-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6828 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
99336860-99491929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99423987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 520
(N520S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022650]
|
| AlphaFold |
E9Q6K3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022650
AA Change: N520S
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: N520S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,545,389 (GRCm39) |
M349K |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,304,606 (GRCm39) |
E472G |
probably damaging |
Het |
| Ap2s1 |
T |
C |
7: 16,482,626 (GRCm39) |
Y94H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,964,237 (GRCm39) |
F530L |
probably damaging |
Het |
| Aplnr |
G |
A |
2: 84,970,103 (GRCm39) |
|
probably benign |
Het |
| Arid3b |
A |
G |
9: 57,717,446 (GRCm39) |
|
probably null |
Het |
| Ash1l |
A |
C |
3: 88,983,420 (GRCm39) |
D2874A |
probably benign |
Het |
| Aurka |
T |
A |
2: 172,199,172 (GRCm39) |
R277S |
probably damaging |
Het |
| Calhm4 |
A |
G |
10: 33,919,953 (GRCm39) |
F105L |
possibly damaging |
Het |
| Ccar1 |
C |
A |
10: 62,600,209 (GRCm39) |
W574L |
probably damaging |
Het |
| Cd8b1 |
T |
C |
6: 71,311,100 (GRCm39) |
F207L |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,315,290 (GRCm39) |
R111G |
probably damaging |
Het |
| Clk3 |
G |
A |
9: 57,668,132 (GRCm39) |
T263I |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,272,607 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
T |
9: 20,709,748 (GRCm39) |
G604D |
unknown |
Het |
| Cracdl |
T |
C |
1: 37,663,898 (GRCm39) |
T667A |
possibly damaging |
Het |
| Crb2 |
ACTGCTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
2: 37,666,421 (GRCm39) |
|
probably benign |
Het |
| Ctps1 |
A |
T |
4: 120,405,335 (GRCm39) |
V369D |
probably damaging |
Het |
| Dennd5b |
A |
G |
6: 148,895,244 (GRCm39) |
I1262T |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Fam170b |
A |
G |
14: 32,557,915 (GRCm39) |
D250G |
probably damaging |
Het |
| Foxs1 |
G |
A |
2: 152,775,048 (GRCm39) |
Q2* |
probably null |
Het |
| Frmpd1 |
T |
C |
4: 45,275,383 (GRCm39) |
V512A |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,389,911 (GRCm39) |
|
probably null |
Het |
| Gria1 |
A |
G |
11: 57,180,288 (GRCm39) |
Y677C |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,029,979 (GRCm39) |
I343T |
probably benign |
Het |
| Igkv1-132 |
T |
C |
6: 67,736,697 (GRCm39) |
V5A |
probably benign |
Het |
| Ikzf5 |
A |
T |
7: 130,993,401 (GRCm39) |
C256S |
probably damaging |
Het |
| Itk |
G |
A |
11: 46,232,045 (GRCm39) |
H297Y |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,017,756 (GRCm39) |
E879G |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,529,123 (GRCm39) |
V127A |
probably damaging |
Het |
| Man2b1 |
C |
A |
8: 85,813,548 (GRCm39) |
P247T |
possibly damaging |
Het |
| Meak7 |
G |
A |
8: 120,499,306 (GRCm39) |
T62I |
possibly damaging |
Het |
| Mxd3 |
T |
C |
13: 55,473,967 (GRCm39) |
K122E |
probably benign |
Het |
| Npr1 |
C |
A |
3: 90,372,120 (GRCm39) |
V231L |
probably benign |
Het |
| Nsd2 |
C |
T |
5: 34,050,912 (GRCm39) |
A1263V |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,258,973 (GRCm39) |
D374G |
probably damaging |
Het |
| Optc |
A |
T |
1: 133,825,605 (GRCm39) |
I307N |
probably damaging |
Het |
| Or5p80 |
A |
C |
7: 108,229,500 (GRCm39) |
Q100H |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,863 (GRCm39) |
S16T |
probably damaging |
Het |
| Pecr |
C |
A |
1: 72,306,616 (GRCm39) |
E222* |
probably null |
Het |
| Rhoj |
A |
G |
12: 75,355,653 (GRCm39) |
N19S |
probably benign |
Het |
| Rock2 |
G |
A |
12: 16,992,960 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
G |
A |
11: 75,205,697 (GRCm39) |
T220I |
probably damaging |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,038,457 (GRCm39) |
H397Y |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,966,632 (GRCm39) |
I185T |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,295,230 (GRCm39) |
V300E |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,471,047 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,843,724 (GRCm39) |
K1379R |
possibly damaging |
Het |
| Usp15 |
T |
C |
10: 122,963,894 (GRCm39) |
I543V |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,447 (GRCm39) |
E334G |
probably damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,688 (GRCm39) |
Y325C |
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 |
|
|
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 |
|
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'- TTTCAGAGATCTCCGCACCAC -3'
(R):5'- AGCAATGATTCCACCTTTCCTTTGTAG -3'
Sequencing Primer
(F):5'- CACCACCGTGTGTGTGTG -3'
(R):5'- ACGAATTTCTGAGGCCAGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation