Incidental Mutation 'R6774:Mamdc4'
| ID |
532269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamdc4
|
| Ensembl Gene |
ENSMUSG00000026941 |
| Gene Name |
MAM domain containing 4 |
| Synonyms |
LOC381352 |
| MMRRC Submission |
044890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25453124-25461328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25456948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 610
(I610V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015236]
[ENSMUST00000095117]
[ENSMUST00000114223]
|
| AlphaFold |
A2AJA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015236
|
| SMART Domains |
Protein: ENSMUSP00000015236
Gene: ENSMUSG00000015092
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBF1
|
4 |
73 |
4.6e-29 |
PFAM |
|
HTH_XRE
|
80 |
135 |
1.02e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095117
AA Change: I614V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: I614V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
LDLa
|
32 |
58 |
7.33e-1 |
SMART |
|
MAM
|
66 |
227 |
3.56e-52 |
SMART |
|
LDLa
|
233 |
272 |
3.5e-9 |
SMART |
|
MAM
|
254 |
430 |
3.87e-53 |
SMART |
|
LDLa
|
461 |
497 |
2.63e-4 |
SMART |
|
MAM
|
493 |
653 |
5.33e-5 |
SMART |
|
MAM
|
660 |
819 |
3.68e-68 |
SMART |
|
MAM
|
820 |
979 |
1.07e-28 |
SMART |
|
MAM
|
980 |
1148 |
2.07e-62 |
SMART |
|
transmembrane domain
|
1165 |
1187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114223
AA Change: I610V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: I610V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
28 |
54 |
7.33e-1 |
SMART |
|
MAM
|
62 |
223 |
3.56e-52 |
SMART |
|
LDLa
|
229 |
268 |
3.5e-9 |
SMART |
|
MAM
|
250 |
426 |
3.87e-53 |
SMART |
|
LDLa
|
457 |
493 |
2.63e-4 |
SMART |
|
MAM
|
489 |
649 |
5.33e-5 |
SMART |
|
MAM
|
656 |
815 |
3.68e-68 |
SMART |
|
MAM
|
816 |
975 |
1.07e-28 |
SMART |
|
MAM
|
976 |
1144 |
2.07e-62 |
SMART |
|
transmembrane domain
|
1161 |
1183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152237
|
| SMART Domains |
Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
| Domain | Start | End | E-Value | Type |
|---|
|
LDLa
|
9 |
35 |
7.33e-1 |
SMART |
|
MAM
|
43 |
204 |
3.56e-52 |
SMART |
|
LDLa
|
210 |
249 |
3.5e-9 |
SMART |
|
MAM
|
231 |
407 |
3.87e-53 |
SMART |
|
LDLa
|
438 |
474 |
2.63e-4 |
SMART |
|
MAM
|
558 |
717 |
2.27e-68 |
SMART |
|
MAM
|
718 |
877 |
1.07e-28 |
SMART |
|
MAM
|
878 |
1046 |
2.07e-62 |
SMART |
|
transmembrane domain
|
1063 |
1085 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,908 (GRCm39) |
I822N |
probably damaging |
Het |
| 9930111J21Rik1 |
A |
G |
11: 48,838,143 (GRCm39) |
S815P |
possibly damaging |
Het |
| A430033K04Rik |
A |
G |
5: 138,644,712 (GRCm39) |
Y199C |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,078,220 (GRCm39) |
H668L |
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,888,732 (GRCm39) |
V113E |
probably benign |
Het |
| Ahnak2 |
C |
T |
12: 112,740,172 (GRCm39) |
C494Y |
possibly damaging |
Het |
| Atr |
A |
T |
9: 95,809,266 (GRCm39) |
E1981D |
probably benign |
Het |
| Bmp7 |
A |
G |
2: 172,714,751 (GRCm39) |
Y353H |
probably damaging |
Het |
| Capn11 |
C |
T |
17: 45,968,256 (GRCm39) |
|
probably benign |
Het |
| Ccdc103 |
T |
C |
11: 102,773,519 (GRCm39) |
F47S |
probably damaging |
Het |
| Cmas |
A |
G |
6: 142,710,147 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Cntn5 |
T |
C |
9: 10,144,222 (GRCm39) |
Y149C |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,613,619 (GRCm39) |
S75R |
possibly damaging |
Het |
| Crat |
G |
A |
2: 30,303,195 (GRCm39) |
H31Y |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,737,810 (GRCm39) |
V41A |
probably benign |
Het |
| F5 |
C |
T |
1: 164,014,447 (GRCm39) |
R573C |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,117,261 (GRCm39) |
N1170S |
possibly damaging |
Het |
| Gm29666 |
A |
T |
15: 84,798,260 (GRCm39) |
C100* |
probably null |
Het |
| Gm3573 |
A |
T |
14: 42,009,472 (GRCm39) |
Y158N |
possibly damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,240,793 (GRCm39) |
A1968E |
possibly damaging |
Het |
| Heg1 |
C |
A |
16: 33,558,638 (GRCm39) |
T815K |
probably damaging |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Kif17 |
A |
G |
4: 138,002,306 (GRCm39) |
Y170C |
probably damaging |
Het |
| Kti12 |
G |
A |
4: 108,705,652 (GRCm39) |
G189R |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,341,849 (GRCm39) |
A1821T |
probably benign |
Het |
| Mmp1b |
T |
C |
9: 7,387,914 (GRCm39) |
K27E |
probably benign |
Het |
| Mob4 |
A |
G |
1: 55,187,588 (GRCm39) |
|
probably null |
Het |
| Myc |
G |
A |
15: 61,860,128 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
T |
9: 75,196,468 (GRCm39) |
I1305F |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,187,381 (GRCm39) |
V292A |
probably damaging |
Het |
| Ntng2 |
T |
C |
2: 29,087,102 (GRCm39) |
T373A |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,380 (GRCm39) |
V40D |
probably damaging |
Het |
| Or4a67 |
C |
T |
2: 88,598,228 (GRCm39) |
V144I |
probably benign |
Het |
| Or5p50 |
T |
A |
7: 107,422,395 (GRCm39) |
T94S |
probably benign |
Het |
| Or7e171-ps1 |
A |
T |
9: 19,853,070 (GRCm39) |
L222H |
unknown |
Het |
| Pard3 |
T |
C |
8: 128,137,228 (GRCm39) |
L859P |
probably damaging |
Het |
| Ppcs |
T |
C |
4: 119,276,285 (GRCm39) |
D100G |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,543,325 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
T |
C |
7: 138,835,903 (GRCm39) |
V448A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,056,119 (GRCm39) |
K624R |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,815,974 (GRCm39) |
I686N |
probably benign |
Het |
| Synj2 |
C |
T |
17: 6,088,290 (GRCm39) |
S1447L |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,928,606 (GRCm39) |
Y2673* |
probably null |
Het |
| Trim27 |
T |
A |
13: 21,376,624 (GRCm39) |
H457Q |
probably damaging |
Het |
| Trim72 |
T |
G |
7: 127,609,558 (GRCm39) |
F453L |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,015,379 (GRCm39) |
M877K |
probably damaging |
Het |
| Usp10 |
T |
C |
8: 120,678,711 (GRCm39) |
L564P |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,627,296 (GRCm39) |
V454A |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,904 (GRCm39) |
D701E |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
| Zfp35 |
G |
A |
18: 24,136,015 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,568 (GRCm39) |
T320A |
probably benign |
Het |
|
| Other mutations in Mamdc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Mamdc4
|
APN |
2 |
25,453,588 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01994:Mamdc4
|
APN |
2 |
25,458,546 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02072:Mamdc4
|
APN |
2 |
25,458,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02193:Mamdc4
|
APN |
2 |
25,454,458 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02673:Mamdc4
|
APN |
2 |
25,460,066 (GRCm39) |
missense |
probably benign |
|
|
IGL03048:Mamdc4
|
UTSW |
2 |
25,459,084 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0135:Mamdc4
|
UTSW |
2 |
25,456,932 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0481:Mamdc4
|
UTSW |
2 |
25,461,228 (GRCm39) |
start codon destroyed |
probably null |
0.08 |
|
R0490:Mamdc4
|
UTSW |
2 |
25,453,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0609:Mamdc4
|
UTSW |
2 |
25,454,205 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0729:Mamdc4
|
UTSW |
2 |
25,460,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1365:Mamdc4
|
UTSW |
2 |
25,456,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Mamdc4
|
UTSW |
2 |
25,459,759 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1671:Mamdc4
|
UTSW |
2 |
25,458,235 (GRCm39) |
nonsense |
probably null |
|
|
R1789:Mamdc4
|
UTSW |
2 |
25,457,634 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2002:Mamdc4
|
UTSW |
2 |
25,457,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Mamdc4
|
UTSW |
2 |
25,453,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2014:Mamdc4
|
UTSW |
2 |
25,453,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2056:Mamdc4
|
UTSW |
2 |
25,454,180 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2109:Mamdc4
|
UTSW |
2 |
25,459,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Mamdc4
|
UTSW |
2 |
25,459,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2185:Mamdc4
|
UTSW |
2 |
25,459,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2473:Mamdc4
|
UTSW |
2 |
25,456,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2496:Mamdc4
|
UTSW |
2 |
25,455,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3818:Mamdc4
|
UTSW |
2 |
25,455,785 (GRCm39) |
missense |
probably benign |
|
|
R4591:Mamdc4
|
UTSW |
2 |
25,454,609 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4829:Mamdc4
|
UTSW |
2 |
25,455,368 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4898:Mamdc4
|
UTSW |
2 |
25,460,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5209:Mamdc4
|
UTSW |
2 |
25,456,935 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5268:Mamdc4
|
UTSW |
2 |
25,454,702 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5490:Mamdc4
|
UTSW |
2 |
25,455,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Mamdc4
|
UTSW |
2 |
25,457,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6234:Mamdc4
|
UTSW |
2 |
25,460,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Mamdc4
|
UTSW |
2 |
25,457,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Mamdc4
|
UTSW |
2 |
25,458,977 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7225:Mamdc4
|
UTSW |
2 |
25,455,558 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7451:Mamdc4
|
UTSW |
2 |
25,454,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7520:Mamdc4
|
UTSW |
2 |
25,455,360 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7627:Mamdc4
|
UTSW |
2 |
25,458,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7875:Mamdc4
|
UTSW |
2 |
25,458,677 (GRCm39) |
nonsense |
probably null |
|
|
R8041:Mamdc4
|
UTSW |
2 |
25,454,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8144:Mamdc4
|
UTSW |
2 |
25,457,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8201:Mamdc4
|
UTSW |
2 |
25,456,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Mamdc4
|
UTSW |
2 |
25,456,368 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8531:Mamdc4
|
UTSW |
2 |
25,457,730 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8810:Mamdc4
|
UTSW |
2 |
25,458,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9069:Mamdc4
|
UTSW |
2 |
25,453,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Mamdc4
|
UTSW |
2 |
25,455,600 (GRCm39) |
missense |
probably benign |
|
|
R9446:Mamdc4
|
UTSW |
2 |
25,453,645 (GRCm39) |
missense |
probably benign |
|
|
R9486:Mamdc4
|
UTSW |
2 |
25,455,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9551:Mamdc4
|
UTSW |
2 |
25,460,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9626:Mamdc4
|
UTSW |
2 |
25,458,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Mamdc4
|
UTSW |
2 |
25,460,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Mamdc4
|
UTSW |
2 |
25,454,698 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACATTGTCCACCCCAG -3'
(R):5'- GGCTTACTATTTTCAAAGTCACCC -3'
Sequencing Primer
(F):5'- AACTCCAGCTTTAGGCAG -3'
(R):5'- CAAGGTATTACACGTCCCTGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation