Incidental Mutation 'R5472:Brinp3'
| ID |
433845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brinp3
|
| Ensembl Gene |
ENSMUSG00000035131 |
| Gene Name |
bone morphogenetic protein/retinoic acid inducible neural specific 3 |
| Synonyms |
Fam5c, B830045N13Rik |
| MMRRC Submission |
043033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R5472 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
146371367-146778210 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 146777197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 548
(H548L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074622]
[ENSMUST00000128345]
[ENSMUST00000166814]
|
| AlphaFold |
Q499E0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074622
AA Change: H548L
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074201
Gene: ENSMUSG00000035131
AA Change: H548L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
MACPF
|
78 |
264 |
7.69e-42 |
SMART |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
coiled coil region
|
349 |
372 |
N/A |
INTRINSIC |
|
EGF
|
440 |
475 |
1.73e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128345
|
| SMART Domains |
Protein: ENSMUSP00000116763
Gene: ENSMUSG00000035131
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166814
AA Change: H548L
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126074
Gene: ENSMUSG00000035131
AA Change: H548L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
MACPF
|
78 |
264 |
7.69e-42 |
SMART |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
coiled coil region
|
349 |
372 |
N/A |
INTRINSIC |
|
EGF
|
440 |
475 |
1.73e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
T |
C |
2: 25,469,714 (GRCm39) |
T66A |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,750,869 (GRCm39) |
N506S |
probably benign |
Het |
| Cacna1c |
A |
G |
6: 118,615,407 (GRCm39) |
V1328A |
possibly damaging |
Het |
| Carmil1 |
C |
T |
13: 24,339,454 (GRCm39) |
V47I |
probably damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,048 (GRCm39) |
T76K |
probably benign |
Het |
| Col16a1 |
T |
C |
4: 129,986,564 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,455,703 (GRCm39) |
D583G |
probably benign |
Het |
| Cxcr4 |
C |
A |
1: 128,517,362 (GRCm39) |
A100S |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,419,677 (GRCm39) |
C305F |
probably damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,107,055 (GRCm39) |
V308A |
probably benign |
Het |
| Gm11733 |
A |
T |
11: 117,375,322 (GRCm39) |
I24L |
unknown |
Het |
| Gm973 |
A |
G |
1: 59,667,446 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,109,089 (GRCm39) |
F1057I |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,394,838 (GRCm39) |
|
probably null |
Het |
| Ighv1-20 |
A |
T |
12: 114,687,471 (GRCm39) |
V91E |
probably damaging |
Het |
| Inhba |
A |
G |
13: 16,201,371 (GRCm39) |
E311G |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,526,108 (GRCm39) |
|
probably null |
Het |
| Jag1 |
C |
A |
2: 136,926,915 (GRCm39) |
C948F |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,625 (GRCm39) |
I402T |
possibly damaging |
Het |
| Kcnh8 |
A |
T |
17: 53,284,844 (GRCm39) |
Q938L |
possibly damaging |
Het |
| Lrsam1 |
ACC |
AC |
2: 32,835,870 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,343,854 (GRCm39) |
T2123A |
probably benign |
Het |
| Mdfic2 |
A |
T |
6: 98,215,237 (GRCm39) |
C129S |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Msh6 |
G |
A |
17: 88,291,989 (GRCm39) |
R248Q |
possibly damaging |
Het |
| Odf2l |
G |
T |
3: 144,852,627 (GRCm39) |
R457L |
probably benign |
Het |
| Or6c69c |
A |
T |
10: 129,910,898 (GRCm39) |
L206F |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,386,856 (GRCm39) |
V318A |
possibly damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,075,973 (GRCm39) |
T267I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,103,727 (GRCm39) |
D133G |
probably benign |
Het |
| Prpf8 |
A |
C |
11: 75,394,469 (GRCm39) |
K1801N |
possibly damaging |
Het |
| Raf1 |
A |
G |
6: 115,603,667 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
C |
A |
17: 32,615,643 (GRCm39) |
L374F |
probably damaging |
Het |
| S1pr3 |
T |
A |
13: 51,573,683 (GRCm39) |
V288D |
probably damaging |
Het |
| Setd7 |
G |
A |
3: 51,428,886 (GRCm39) |
P315S |
probably benign |
Het |
| Slx4 |
C |
T |
16: 3,809,404 (GRCm39) |
A364T |
probably benign |
Het |
| Sp7 |
G |
A |
15: 102,267,749 (GRCm39) |
T19I |
probably benign |
Het |
| Tlr9 |
T |
A |
9: 106,101,512 (GRCm39) |
C268S |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,394 (GRCm39) |
D351E |
possibly damaging |
Het |
| Tmem45b |
T |
A |
9: 31,339,340 (GRCm39) |
D211V |
possibly damaging |
Het |
| Tns3 |
A |
G |
11: 8,401,092 (GRCm39) |
S1069P |
probably benign |
Het |
| Tsnax |
A |
G |
8: 125,742,501 (GRCm39) |
I77V |
probably benign |
Het |
| Txndc5 |
G |
A |
13: 38,697,101 (GRCm39) |
L79F |
possibly damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,684,548 (GRCm39) |
E14G |
probably benign |
Het |
| Vmn2r28 |
C |
T |
7: 5,490,943 (GRCm39) |
|
probably null |
Het |
| Vwde |
A |
T |
6: 13,193,117 (GRCm39) |
D407E |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,066,619 (GRCm39) |
M749K |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,928,046 (GRCm39) |
C462* |
probably null |
Het |
|
| Other mutations in Brinp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Brinp3
|
APN |
1 |
146,777,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00503:Brinp3
|
APN |
1 |
146,776,905 (GRCm39) |
missense |
probably benign |
|
|
IGL01702:Brinp3
|
APN |
1 |
146,627,735 (GRCm39) |
splice site |
probably benign |
|
|
IGL01728:Brinp3
|
APN |
1 |
146,707,289 (GRCm39) |
splice site |
probably null |
|
|
IGL01733:Brinp3
|
APN |
1 |
146,390,541 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01937:Brinp3
|
APN |
1 |
146,776,878 (GRCm39) |
missense |
probably benign |
|
|
IGL02020:Brinp3
|
APN |
1 |
146,777,865 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02082:Brinp3
|
APN |
1 |
146,627,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02365:Brinp3
|
APN |
1 |
146,776,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02366:Brinp3
|
APN |
1 |
146,577,481 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02565:Brinp3
|
APN |
1 |
146,777,770 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02999:Brinp3
|
APN |
1 |
146,577,587 (GRCm39) |
splice site |
probably null |
|
|
IGL03099:Brinp3
|
APN |
1 |
146,777,835 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
PIT4283001:Brinp3
|
UTSW |
1 |
146,777,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4418001:Brinp3
|
UTSW |
1 |
146,777,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0021:Brinp3
|
UTSW |
1 |
146,777,189 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0021:Brinp3
|
UTSW |
1 |
146,777,189 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0266:Brinp3
|
UTSW |
1 |
146,558,418 (GRCm39) |
nonsense |
probably null |
|
|
R1468:Brinp3
|
UTSW |
1 |
146,777,700 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1468:Brinp3
|
UTSW |
1 |
146,777,700 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1522:Brinp3
|
UTSW |
1 |
146,777,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1596:Brinp3
|
UTSW |
1 |
146,390,520 (GRCm39) |
missense |
probably benign |
|
|
R1898:Brinp3
|
UTSW |
1 |
146,776,987 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2036:Brinp3
|
UTSW |
1 |
146,577,579 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2224:Brinp3
|
UTSW |
1 |
146,777,658 (GRCm39) |
nonsense |
probably null |
|
|
R2272:Brinp3
|
UTSW |
1 |
146,777,142 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2291:Brinp3
|
UTSW |
1 |
146,776,812 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2322:Brinp3
|
UTSW |
1 |
146,577,492 (GRCm39) |
missense |
probably benign |
|
|
R2880:Brinp3
|
UTSW |
1 |
146,777,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3918:Brinp3
|
UTSW |
1 |
146,627,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3939:Brinp3
|
UTSW |
1 |
146,627,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3940:Brinp3
|
UTSW |
1 |
146,627,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3941:Brinp3
|
UTSW |
1 |
146,627,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3942:Brinp3
|
UTSW |
1 |
146,627,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4095:Brinp3
|
UTSW |
1 |
146,777,430 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4783:Brinp3
|
UTSW |
1 |
146,603,378 (GRCm39) |
intron |
probably benign |
|
|
R5009:Brinp3
|
UTSW |
1 |
146,776,787 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5034:Brinp3
|
UTSW |
1 |
146,603,458 (GRCm39) |
intron |
probably benign |
|
|
R5166:Brinp3
|
UTSW |
1 |
146,777,105 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5372:Brinp3
|
UTSW |
1 |
146,707,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5651:Brinp3
|
UTSW |
1 |
146,577,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5681:Brinp3
|
UTSW |
1 |
146,777,484 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6351:Brinp3
|
UTSW |
1 |
146,777,323 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6470:Brinp3
|
UTSW |
1 |
146,777,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6499:Brinp3
|
UTSW |
1 |
146,777,431 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7078:Brinp3
|
UTSW |
1 |
146,390,627 (GRCm39) |
nonsense |
probably null |
|
|
R7223:Brinp3
|
UTSW |
1 |
146,776,812 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7322:Brinp3
|
UTSW |
1 |
146,558,426 (GRCm39) |
nonsense |
probably null |
|
|
R7347:Brinp3
|
UTSW |
1 |
146,777,824 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7375:Brinp3
|
UTSW |
1 |
146,777,748 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7412:Brinp3
|
UTSW |
1 |
146,777,748 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7532:Brinp3
|
UTSW |
1 |
146,777,139 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7562:Brinp3
|
UTSW |
1 |
146,777,748 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7576:Brinp3
|
UTSW |
1 |
146,777,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7723:Brinp3
|
UTSW |
1 |
146,577,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7737:Brinp3
|
UTSW |
1 |
146,558,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7793:Brinp3
|
UTSW |
1 |
146,622,306 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8334:Brinp3
|
UTSW |
1 |
146,777,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8401:Brinp3
|
UTSW |
1 |
146,777,184 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9205:Brinp3
|
UTSW |
1 |
146,777,827 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9328:Brinp3
|
UTSW |
1 |
146,707,455 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9602:Brinp3
|
UTSW |
1 |
146,622,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Brinp3
|
UTSW |
1 |
146,777,524 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Brinp3
|
UTSW |
1 |
146,777,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTGCAAGCCTGAAGTCG -3'
(R):5'- TAGAGGGAGGTCCAGCTTAG -3'
Sequencing Primer
(F):5'- ACATTGGCTTTGAGACCGAC -3'
(R):5'- AGGTCCAGCTTAGTCCGCTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation