Incidental Mutation 'R5922:Pibf1'
| ID |
461654 |
| 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 |
043240-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5922 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
99336860-99491929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99374524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 321
(D321G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022650]
|
| AlphaFold |
E9Q6K3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022650
AA Change: D321G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: D321G
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
| Cpn1 |
T |
C |
19: 43,974,532 (GRCm39) |
S66G |
probably damaging |
Het |
| Dnal1 |
C |
A |
12: 84,173,746 (GRCm39) |
L55M |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,780,037 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
| Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
| Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
| Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,831 (GRCm39) |
R118H |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
| Ms4a6b |
T |
A |
19: 11,497,743 (GRCm39) |
I14N |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
| Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,770 (GRCm39) |
Q182* |
probably null |
Het |
| Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,659 (GRCm39) |
E752G |
possibly damaging |
Het |
| Paqr6 |
G |
T |
3: 88,273,544 (GRCm39) |
A154S |
probably benign |
Het |
| Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
| Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
| Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,766 (GRCm39) |
K224E |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
| Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
| Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
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 |
|
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 |
|
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'- TCACATACTGAGGAGCAAATAGC -3'
(R):5'- TATTCCCAGAGACCACTTCTGC -3'
Sequencing Primer
(F):5'- TGGAAACTTTCTAGCCGGAC -3'
(R):5'- CAAAGTGCTCATTTACATCGACTAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation