Incidental Mutation 'R0981:Pibf1'
| ID |
97214 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R0981 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
99336860-99491929 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 99388179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022650]
|
| AlphaFold |
E9Q6K3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022650
|
| SMART Domains |
Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
| 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: 99.5%
- 3x: 98.4%
- 10x: 95.4%
- 20x: 89.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,831,257 (GRCm39) |
C942S |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,051 (GRCm39) |
N984S |
possibly damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,315,961 (GRCm39) |
S960P |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,851,491 (GRCm39) |
N66K |
probably damaging |
Het |
| Cckar |
C |
T |
5: 53,863,632 (GRCm39) |
G39R |
probably damaging |
Het |
| Cimap1a |
A |
G |
7: 140,428,208 (GRCm39) |
M7V |
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cpb1 |
C |
A |
3: 20,329,654 (GRCm39) |
R24L |
probably benign |
Het |
| Dlg5 |
T |
G |
14: 24,204,699 (GRCm39) |
R1258S |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,054,914 (GRCm39) |
Q148R |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,784,535 (GRCm39) |
Y198* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,588 (GRCm39) |
|
probably null |
Het |
| Glis1 |
A |
G |
4: 107,472,239 (GRCm39) |
E272G |
probably damaging |
Het |
| Gm13741 |
T |
C |
2: 87,486,578 (GRCm39) |
N229S |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,922 (GRCm39) |
I392F |
probably damaging |
Het |
| H2-M2 |
T |
C |
17: 37,793,521 (GRCm39) |
T162A |
probably benign |
Het |
| Hk2 |
G |
A |
6: 82,720,949 (GRCm39) |
R190W |
probably damaging |
Het |
| Irf1 |
T |
C |
11: 53,664,548 (GRCm39) |
*52R |
probably null |
Het |
| Lman2l |
T |
A |
1: 36,484,314 (GRCm39) |
M1L |
unknown |
Het |
| Mgat1 |
C |
T |
11: 49,151,882 (GRCm39) |
R122C |
probably damaging |
Het |
| Mtrf1 |
T |
C |
14: 79,639,030 (GRCm39) |
L54S |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,178,873 (GRCm39) |
L676F |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,226,174 (GRCm39) |
I786T |
probably damaging |
Het |
| Or5p64 |
AGGT |
A |
7: 107,855,228 (GRCm39) |
|
probably benign |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Pfn1 |
G |
A |
11: 70,542,964 (GRCm39) |
R137C |
probably benign |
Het |
| Pgbd5 |
G |
A |
8: 125,111,032 (GRCm39) |
R129* |
probably null |
Het |
| Pkd2l1 |
A |
G |
19: 44,142,861 (GRCm39) |
|
probably null |
Het |
| Plin5 |
C |
A |
17: 56,421,020 (GRCm39) |
R215L |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,533,550 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
T |
G |
1: 153,635,345 (GRCm39) |
C608G |
probably benign |
Het |
| Slc28a2 |
T |
A |
2: 122,281,465 (GRCm39) |
V218D |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 66,016,841 (GRCm39) |
I29V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,752,000 (GRCm39) |
W939R |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,157,164 (GRCm39) |
R15L |
probably damaging |
Het |
| Tmx3 |
T |
C |
18: 90,555,324 (GRCm39) |
V347A |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,389 (GRCm39) |
T122A |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,869,049 (GRCm39) |
N326K |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,475,528 (GRCm39) |
L642P |
probably benign |
Het |
| Zfp808 |
C |
A |
13: 62,319,487 (GRCm39) |
H239N |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGGGACAGTGCTCTCCAA -3'
(R):5'- GGGTGGGGCTGAGAACATTTCAA -3'
Sequencing Primer
(F):5'- ACTGAGTCCTAAGCCAACTTGTG -3'
(R):5'- cacacacacacacacacacac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation