Incidental Mutation 'IGL01537:Brinp2'
| ID |
89986 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Brinp2
|
| Ensembl Gene |
ENSMUSG00000004031 |
| Gene Name |
bone morphogenic protein/retinoic acid inducible neural-specific 2 |
| Synonyms |
6430517E21Rik, Fam5b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
IGL01537
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
158072839-158183896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 158074379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 581
(T581A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004133]
[ENSMUST00000195271]
|
| AlphaFold |
Q6DFY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004133
AA Change: T581A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000004133
Gene: ENSMUSG00000004031
AA Change: T581A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
MACPF
|
89 |
281 |
6.58e-50 |
SMART |
|
Blast:MACPF
|
338 |
362 |
1e-5 |
BLAST |
|
EGF
|
457 |
492 |
6.92e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195271
|
| SMART Domains |
Protein: ENSMUSP00000141709
Gene: ENSMUSG00000004031
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:MACPF
|
63 |
160 |
2.1e-6 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1l |
T |
C |
8: 110,459,312 (GRCm39) |
R317G |
probably benign |
Het |
| B130006D01Rik |
T |
A |
11: 95,616,992 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,548,540 (GRCm39) |
I1179N |
probably damaging |
Het |
| Cacnb3 |
A |
G |
15: 98,541,301 (GRCm39) |
D434G |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,847,341 (GRCm39) |
T423A |
possibly damaging |
Het |
| Chkb |
C |
T |
15: 89,311,986 (GRCm39) |
|
probably benign |
Het |
| Cit |
T |
C |
5: 116,071,913 (GRCm39) |
Y623H |
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,408,559 (GRCm39) |
R918C |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,406,906 (GRCm39) |
M200L |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,838,506 (GRCm39) |
H3097L |
probably benign |
Het |
| Dst |
T |
A |
1: 34,314,401 (GRCm39) |
L4217H |
probably damaging |
Het |
| Fam107b |
T |
A |
2: 3,779,565 (GRCm39) |
L80Q |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,045,595 (GRCm39) |
C55S |
probably damaging |
Het |
| Igkv4-71 |
C |
A |
6: 69,220,264 (GRCm39) |
G78* |
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,237,452 (GRCm39) |
S910P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,407,718 (GRCm39) |
D41G |
probably damaging |
Het |
| Larp1 |
T |
A |
11: 57,933,648 (GRCm39) |
I358N |
possibly damaging |
Het |
| Marchf5 |
C |
T |
19: 37,188,067 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,287,895 (GRCm39) |
T455A |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,815,510 (GRCm39) |
V612A |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,380,023 (GRCm39) |
D923G |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,918 (GRCm39) |
F7L |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 5,037,355 (GRCm39) |
N313S |
possibly damaging |
Het |
| Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
| Or10d5 |
T |
A |
9: 39,861,921 (GRCm39) |
T49S |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,072,751 (GRCm39) |
N67D |
probably damaging |
Het |
| Or4c107 |
T |
C |
2: 88,788,885 (GRCm39) |
V25A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,589,647 (GRCm39) |
V649A |
unknown |
Het |
| Pom121 |
A |
G |
5: 135,421,389 (GRCm39) |
|
probably benign |
Het |
| Ptcd2 |
A |
T |
13: 99,466,521 (GRCm39) |
I224N |
possibly damaging |
Het |
| Rsrp1 |
C |
T |
4: 134,651,290 (GRCm39) |
P18L |
unknown |
Het |
| Sash1 |
A |
T |
10: 8,605,422 (GRCm39) |
N989K |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,546,219 (GRCm39) |
H927Q |
probably benign |
Het |
| Selenoi |
G |
T |
5: 30,461,222 (GRCm39) |
V128F |
probably damaging |
Het |
| Slc25a42 |
T |
C |
8: 70,642,092 (GRCm39) |
I117V |
probably benign |
Het |
| Spata1 |
A |
G |
3: 146,195,558 (GRCm39) |
|
probably benign |
Het |
| Sptlc3 |
A |
T |
2: 139,431,615 (GRCm39) |
Y379F |
possibly damaging |
Het |
| Tent4a |
A |
T |
13: 69,648,678 (GRCm39) |
S693T |
probably benign |
Het |
| Tinag |
C |
T |
9: 76,952,885 (GRCm39) |
R33K |
probably benign |
Het |
| Trappc8 |
T |
C |
18: 20,968,061 (GRCm39) |
D1092G |
probably benign |
Het |
| Xntrpc |
A |
G |
7: 101,722,401 (GRCm39) |
E22G |
probably damaging |
Het |
| Zbtb7b |
A |
G |
3: 89,287,278 (GRCm39) |
M397T |
possibly damaging |
Het |
| Zgpat |
A |
G |
2: 181,020,682 (GRCm39) |
D285G |
probably benign |
Het |
|
| Other mutations in Brinp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Brinp2
|
APN |
1 |
158,074,670 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02354:Brinp2
|
APN |
1 |
158,074,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02361:Brinp2
|
APN |
1 |
158,074,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
slowdancing
|
UTSW |
1 |
158,094,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0334:Brinp2
|
UTSW |
1 |
158,123,155 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0652:Brinp2
|
UTSW |
1 |
158,074,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1017:Brinp2
|
UTSW |
1 |
158,077,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1141:Brinp2
|
UTSW |
1 |
158,074,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1378:Brinp2
|
UTSW |
1 |
158,074,624 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1666:Brinp2
|
UTSW |
1 |
158,074,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Brinp2
|
UTSW |
1 |
158,082,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1986:Brinp2
|
UTSW |
1 |
158,074,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Brinp2
|
UTSW |
1 |
158,074,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3924:Brinp2
|
UTSW |
1 |
158,073,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4582:Brinp2
|
UTSW |
1 |
158,095,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Brinp2
|
UTSW |
1 |
158,078,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5537:Brinp2
|
UTSW |
1 |
158,082,583 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5582:Brinp2
|
UTSW |
1 |
158,076,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Brinp2
|
UTSW |
1 |
158,074,156 (GRCm39) |
missense |
probably benign |
|
|
R5922:Brinp2
|
UTSW |
1 |
158,076,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6746:Brinp2
|
UTSW |
1 |
158,094,160 (GRCm39) |
missense |
probably benign |
|
|
R6999:Brinp2
|
UTSW |
1 |
158,078,875 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7144:Brinp2
|
UTSW |
1 |
158,122,994 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7221:Brinp2
|
UTSW |
1 |
158,094,117 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7376:Brinp2
|
UTSW |
1 |
158,078,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7381:Brinp2
|
UTSW |
1 |
158,073,913 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7388:Brinp2
|
UTSW |
1 |
158,082,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7531:Brinp2
|
UTSW |
1 |
158,094,142 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7697:Brinp2
|
UTSW |
1 |
158,095,496 (GRCm39) |
missense |
probably benign |
|
|
R7701:Brinp2
|
UTSW |
1 |
158,094,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7910:Brinp2
|
UTSW |
1 |
158,074,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Brinp2
|
UTSW |
1 |
158,074,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Brinp2
|
UTSW |
1 |
158,073,913 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9343:Brinp2
|
UTSW |
1 |
158,077,090 (GRCm39) |
splice site |
probably benign |
|
|
R9513:Brinp2
|
UTSW |
1 |
158,074,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Brinp2
|
UTSW |
1 |
158,095,553 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Brinp2
|
UTSW |
1 |
158,074,559 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Brinp2
|
UTSW |
1 |
158,074,741 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Brinp2
|
UTSW |
1 |
158,074,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Brinp2
|
UTSW |
1 |
158,074,352 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2013-12-03 |
Incidental Mutation