Incidental Mutation 'R3111:Mfap3'
| ID |
263786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfap3
|
| Ensembl Gene |
ENSMUSG00000020522 |
| Gene Name |
microfibrillar-associated protein 3 |
| Synonyms |
2700079M14Rik, 2610509F16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R3111 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
57409490-57424641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57420406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 129
(V129A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020830]
[ENSMUST00000108848]
[ENSMUST00000108849]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020830
AA Change: V129A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020830
Gene: ENSMUSG00000020522
AA Change: V129A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
59 |
124 |
7.07e-13 |
SMART |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108848
|
| SMART Domains |
Protein: ENSMUSP00000104476
Gene: ENSMUSG00000020522
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SCOP:d1iray2
|
56 |
107 |
4e-4 |
SMART |
|
Blast:IGc2
|
59 |
110 |
4e-32 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108849
AA Change: V129A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104477
Gene: ENSMUSG00000020522
AA Change: V129A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
59 |
124 |
7.07e-13 |
SMART |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128971
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
| Car12 |
C |
T |
9: 66,661,008 (GRCm39) |
T124I |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,087 (GRCm39) |
M1111K |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
| Gad1-ps |
A |
G |
10: 99,280,383 (GRCm39) |
|
noncoding transcript |
Het |
| Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Myh4 |
T |
A |
11: 67,137,276 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Nmnat3 |
T |
A |
9: 98,281,533 (GRCm39) |
I45N |
probably damaging |
Het |
| Or1e32 |
T |
C |
11: 73,705,012 (GRCm39) |
R299G |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,940,290 (GRCm39) |
I232V |
probably benign |
Het |
| Pcdha12 |
A |
T |
18: 37,155,243 (GRCm39) |
H654L |
probably damaging |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,643,372 (GRCm39) |
S65P |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,813,222 (GRCm39) |
T11I |
probably benign |
Het |
| Phf24 |
G |
A |
4: 42,938,316 (GRCm39) |
V226I |
probably benign |
Het |
| Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
T |
C |
4: 118,068,629 (GRCm39) |
D1713G |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,676,069 (GRCm39) |
V6F |
probably benign |
Het |
| Sac3d1 |
T |
C |
19: 6,168,387 (GRCm39) |
K77R |
probably benign |
Het |
| Slc1a6 |
T |
A |
10: 78,624,915 (GRCm39) |
S107T |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,757,547 (GRCm39) |
Y30H |
probably damaging |
Het |
| Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
| Tnn |
C |
A |
1: 159,934,625 (GRCm39) |
D1263Y |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,076,145 (GRCm39) |
F499L |
probably damaging |
Het |
|
| Other mutations in Mfap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
banshee
|
UTSW |
11 |
57,420,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
shrill
|
UTSW |
11 |
57,419,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
yowl
|
UTSW |
11 |
57,420,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0479:Mfap3
|
UTSW |
11 |
57,420,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Mfap3
|
UTSW |
11 |
57,418,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1861:Mfap3
|
UTSW |
11 |
57,419,032 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1911:Mfap3
|
UTSW |
11 |
57,420,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4194:Mfap3
|
UTSW |
11 |
57,420,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4696:Mfap3
|
UTSW |
11 |
57,419,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5196:Mfap3
|
UTSW |
11 |
57,420,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Mfap3
|
UTSW |
11 |
57,420,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Mfap3
|
UTSW |
11 |
57,419,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Mfap3
|
UTSW |
11 |
57,421,066 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7240:Mfap3
|
UTSW |
11 |
57,420,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Mfap3
|
UTSW |
11 |
57,420,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9241:Mfap3
|
UTSW |
11 |
57,420,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Mfap3
|
UTSW |
11 |
57,418,968 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1186:Mfap3
|
UTSW |
11 |
57,418,902 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Mfap3
|
UTSW |
11 |
57,418,866 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1187:Mfap3
|
UTSW |
11 |
57,418,902 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Mfap3
|
UTSW |
11 |
57,418,866 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1188:Mfap3
|
UTSW |
11 |
57,418,902 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Mfap3
|
UTSW |
11 |
57,418,866 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1189:Mfap3
|
UTSW |
11 |
57,418,902 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Mfap3
|
UTSW |
11 |
57,418,866 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1190:Mfap3
|
UTSW |
11 |
57,418,902 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Mfap3
|
UTSW |
11 |
57,418,866 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1191:Mfap3
|
UTSW |
11 |
57,418,902 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Mfap3
|
UTSW |
11 |
57,418,866 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1192:Mfap3
|
UTSW |
11 |
57,418,902 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Mfap3
|
UTSW |
11 |
57,418,866 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGGGACGTCACAGTCTG -3'
(R):5'- AGGCCTTCTGGAGTTTCTCAG -3'
Sequencing Primer
(F):5'- TAGGACTAACAGACAAGCTACAG -3'
(R):5'- GGAGTTTCTCAGCCCCCTCG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation