Incidental Mutation 'R6796:Bpifb4'
| ID |
532997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpifb4
|
| Ensembl Gene |
ENSMUSG00000074665 |
| Gene Name |
BPI fold containing family B, member 4 |
| Synonyms |
Gm1006, LOC381399 |
| MMRRC Submission |
044909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R6796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
153780137-153805772 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 153803467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 381
(K381N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099181]
[ENSMUST00000109757]
[ENSMUST00000109759]
|
| AlphaFold |
A2BGH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099181
AA Change: K381N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665
AA Change: K381N
| Domain | Start | End | E-Value | Type |
|---|
|
BPI1
|
2 |
177 |
3.47e-25 |
SMART |
|
BPI2
|
201 |
403 |
3.62e-78 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109757
AA Change: K595N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
AA Change: K595N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
BPI1
|
171 |
391 |
1.23e-48 |
SMART |
|
BPI2
|
415 |
617 |
3.62e-78 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109759
AA Change: K595N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
AA Change: K595N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
BPI1
|
171 |
391 |
1.23e-48 |
SMART |
|
BPI2
|
415 |
617 |
3.62e-78 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,620,597 (GRCm39) |
V3950A |
probably damaging |
Het |
| App |
A |
G |
16: 84,917,455 (GRCm39) |
I63T |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,603,607 (GRCm39) |
A529T |
probably damaging |
Het |
| Cdh18 |
T |
A |
15: 23,446,159 (GRCm39) |
N536K |
probably damaging |
Het |
| Dpy19l1 |
C |
A |
9: 24,414,158 (GRCm39) |
R90L |
possibly damaging |
Het |
| E2f3 |
A |
G |
13: 30,102,568 (GRCm39) |
V231A |
possibly damaging |
Het |
| F930015N05Rik |
A |
T |
11: 64,326,229 (GRCm39) |
|
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,739,830 (GRCm39) |
H47R |
possibly damaging |
Het |
| Hcar2 |
A |
G |
5: 124,003,330 (GRCm39) |
S58P |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,558 (GRCm39) |
T625A |
possibly damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Itgax |
C |
T |
7: 127,734,236 (GRCm39) |
A336V |
probably damaging |
Het |
| Lin37 |
A |
T |
7: 30,256,341 (GRCm39) |
V140E |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,874,595 (GRCm39) |
I1341K |
unknown |
Het |
| Map4k5 |
T |
C |
12: 69,864,799 (GRCm39) |
I561V |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,857,627 (GRCm39) |
S163P |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,290,039 (GRCm39) |
T158A |
probably damaging |
Het |
| Or5an6 |
A |
T |
19: 12,372,292 (GRCm39) |
I222F |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,278 (GRCm39) |
C95R |
probably damaging |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pax8 |
A |
T |
2: 24,331,098 (GRCm39) |
M200K |
probably benign |
Het |
| Plcd4 |
T |
C |
1: 74,601,229 (GRCm39) |
S498P |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,349,972 (GRCm39) |
Y267C |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,167,694 (GRCm39) |
I655T |
probably benign |
Het |
| Proca1 |
G |
T |
11: 78,085,754 (GRCm39) |
R19L |
probably benign |
Het |
| Prr30 |
A |
G |
14: 101,436,380 (GRCm39) |
S61P |
probably benign |
Het |
| Ranbp17 |
T |
C |
11: 33,167,398 (GRCm39) |
S1022G |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,469 (GRCm39) |
H1037R |
probably damaging |
Het |
| Rpl34 |
G |
T |
3: 130,522,926 (GRCm39) |
T6K |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,771,711 (GRCm39) |
T402A |
probably benign |
Het |
| Selenow |
A |
T |
7: 15,653,996 (GRCm39) |
V52E |
probably damaging |
Het |
| Septin14 |
T |
A |
5: 129,774,822 (GRCm39) |
I118L |
probably benign |
Het |
| Sis |
A |
T |
3: 72,872,951 (GRCm39) |
N62K |
probably benign |
Het |
| Sit1 |
A |
T |
4: 43,482,761 (GRCm39) |
C133S |
probably benign |
Het |
| Susd3 |
ACC |
AC |
13: 49,391,041 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,064,275 (GRCm39) |
V3236A |
probably benign |
Het |
| Taf12 |
G |
A |
4: 132,016,725 (GRCm39) |
V168I |
possibly damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,526 (GRCm39) |
R219S |
probably damaging |
Het |
| Tmc1 |
A |
T |
19: 20,776,400 (GRCm39) |
V653D |
probably damaging |
Het |
| Utp23 |
T |
A |
15: 51,741,007 (GRCm39) |
L30Q |
probably damaging |
Het |
|
| Other mutations in Bpifb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01567:Bpifb4
|
APN |
2 |
153,789,198 (GRCm39) |
splice site |
probably benign |
|
|
IGL01641:Bpifb4
|
APN |
2 |
153,784,601 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL01653:Bpifb4
|
APN |
2 |
153,786,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02745:Bpifb4
|
APN |
2 |
153,789,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Bpifb4
|
UTSW |
2 |
153,782,888 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0309:Bpifb4
|
UTSW |
2 |
153,801,603 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0561:Bpifb4
|
UTSW |
2 |
153,786,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Bpifb4
|
UTSW |
2 |
153,789,203 (GRCm39) |
splice site |
probably benign |
|
|
R1937:Bpifb4
|
UTSW |
2 |
153,785,996 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2433:Bpifb4
|
UTSW |
2 |
153,801,597 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2679:Bpifb4
|
UTSW |
2 |
153,790,544 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2896:Bpifb4
|
UTSW |
2 |
153,796,357 (GRCm39) |
splice site |
probably benign |
|
|
R4701:Bpifb4
|
UTSW |
2 |
153,792,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Bpifb4
|
UTSW |
2 |
153,784,903 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5403:Bpifb4
|
UTSW |
2 |
153,785,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5695:Bpifb4
|
UTSW |
2 |
153,784,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5894:Bpifb4
|
UTSW |
2 |
153,782,852 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6007:Bpifb4
|
UTSW |
2 |
153,784,480 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6302:Bpifb4
|
UTSW |
2 |
153,801,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6351:Bpifb4
|
UTSW |
2 |
153,799,054 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6755:Bpifb4
|
UTSW |
2 |
153,799,658 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6932:Bpifb4
|
UTSW |
2 |
153,784,547 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7489:Bpifb4
|
UTSW |
2 |
153,785,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7986:Bpifb4
|
UTSW |
2 |
153,799,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Bpifb4
|
UTSW |
2 |
153,783,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9019:Bpifb4
|
UTSW |
2 |
153,790,607 (GRCm39) |
nonsense |
probably null |
|
|
RF061:Bpifb4
|
UTSW |
2 |
153,799,048 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
X0018:Bpifb4
|
UTSW |
2 |
153,785,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Bpifb4
|
UTSW |
2 |
153,784,752 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGGGAATAGCCTCACGGG -3'
(R):5'- GCTCTCCCAGCTGGAAAATG -3'
Sequencing Primer
(F):5'- TAAACTAGCCATGGTGCTGC -3'
(R):5'- GCTGCAAGCATAAGAGTTTTCAGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation