Incidental Mutation 'R6681:Mamdc4'
ID |
527481 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mamdc4
|
Ensembl Gene |
ENSMUSG00000026941 |
Gene Name |
MAM domain containing 4 |
Synonyms |
LOC381352 |
MMRRC Submission |
044800-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R6681 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25453124-25461328 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 25457756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 439
(G439V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095117]
[ENSMUST00000114223]
|
AlphaFold |
A2AJA7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095117
AA Change: G443V
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092735 Gene: ENSMUSG00000026941 AA Change: G443V
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 damaging
Transcript: ENSMUST00000114223
AA Change: G439V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000109861 Gene: ENSMUSG00000026941 AA Change: G439V
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 |
noncoding transcript
Transcript: ENSMUST00000135288
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142811
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152124
|
Predicted Effect |
unknown
Transcript: ENSMUST00000152237
AA Change: G419V
|
SMART Domains |
Protein: ENSMUSP00000119789 Gene: ENSMUSG00000026941 AA Change: G419V
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 |
0.1262 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
T |
3: 121,915,447 (GRCm39) |
T971S |
probably damaging |
Het |
Catsperb |
C |
T |
12: 101,590,994 (GRCm39) |
Q1021* |
probably null |
Het |
Ccdc62 |
A |
G |
5: 124,072,156 (GRCm39) |
T62A |
probably benign |
Het |
Cuzd1 |
A |
G |
7: 130,913,412 (GRCm39) |
S402P |
probably damaging |
Het |
Dcun1d1 |
C |
T |
3: 35,949,819 (GRCm39) |
V244M |
probably damaging |
Het |
Dennd2c |
A |
G |
3: 103,038,977 (GRCm39) |
T42A |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,560,385 (GRCm39) |
|
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dpp4 |
A |
T |
2: 62,178,893 (GRCm39) |
F607L |
probably benign |
Het |
Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
Fam53a |
A |
G |
5: 33,765,184 (GRCm39) |
L174P |
probably damaging |
Het |
Fh1 |
T |
C |
1: 175,446,690 (GRCm39) |
D62G |
probably null |
Het |
Gpatch11 |
T |
C |
17: 79,147,528 (GRCm39) |
I103T |
probably damaging |
Het |
Hmgcll1 |
A |
T |
9: 75,988,731 (GRCm39) |
T169S |
probably benign |
Het |
Kbtbd3 |
A |
T |
9: 4,330,687 (GRCm39) |
I354F |
probably benign |
Het |
Kdm5b |
T |
C |
1: 134,541,007 (GRCm39) |
F700L |
possibly damaging |
Het |
Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
Mug1 |
C |
T |
6: 121,815,683 (GRCm39) |
S29L |
possibly damaging |
Het |
Myh2 |
G |
A |
11: 67,069,174 (GRCm39) |
D328N |
probably damaging |
Het |
Or10j3b |
C |
A |
1: 173,043,973 (GRCm39) |
H252N |
probably damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
Or5j1 |
T |
C |
2: 86,878,942 (GRCm39) |
T213A |
probably benign |
Het |
Or8g54 |
T |
A |
9: 39,706,710 (GRCm39) |
I13N |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
Rest |
A |
G |
5: 77,428,844 (GRCm39) |
K421R |
probably damaging |
Het |
Rttn |
C |
A |
18: 89,032,735 (GRCm39) |
H668N |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,393,686 (GRCm39) |
I228V |
possibly damaging |
Het |
Scp2 |
G |
T |
4: 107,948,513 (GRCm39) |
Q155K |
probably damaging |
Het |
Sec61a2 |
G |
A |
2: 5,881,219 (GRCm39) |
R18* |
probably null |
Het |
Serpinb8 |
T |
A |
1: 107,525,321 (GRCm39) |
M41K |
probably damaging |
Het |
Sgsm2 |
A |
T |
11: 74,756,204 (GRCm39) |
W382R |
probably damaging |
Het |
Slc26a10 |
G |
T |
10: 127,009,530 (GRCm39) |
T606N |
possibly damaging |
Het |
Slc30a6 |
T |
C |
17: 74,711,027 (GRCm39) |
I40T |
possibly damaging |
Het |
Slfn5 |
G |
A |
11: 82,847,204 (GRCm39) |
E30K |
possibly damaging |
Het |
Sorcs2 |
C |
A |
5: 36,555,154 (GRCm39) |
R79L |
probably benign |
Het |
Tmc5 |
G |
A |
7: 118,268,527 (GRCm39) |
S865N |
probably damaging |
Het |
Tmprss11c |
T |
A |
5: 86,437,119 (GRCm39) |
M1L |
possibly damaging |
Het |
Trpv5 |
C |
G |
6: 41,630,288 (GRCm39) |
E601Q |
probably damaging |
Het |
Ttc39b |
A |
T |
4: 83,158,285 (GRCm39) |
|
probably benign |
Het |
Ttll6 |
T |
A |
11: 96,029,689 (GRCm39) |
C201S |
probably damaging |
Het |
Vezt |
A |
G |
10: 93,832,859 (GRCm39) |
V204A |
probably benign |
Het |
Vmn1r45 |
T |
A |
6: 89,910,985 (GRCm39) |
|
probably benign |
Het |
Zfp433 |
A |
T |
10: 81,556,722 (GRCm39) |
H408L |
probably damaging |
Het |
Zfp865 |
T |
C |
7: 5,032,450 (GRCm39) |
I145T |
possibly damaging |
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 |
R6774:Mamdc4
|
UTSW |
2 |
25,456,948 (GRCm39) |
missense |
probably benign |
0.06 |
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'- TAAACGTGTGGAGCCATGC -3'
(R):5'- TCAGATCCTTCTAGCTGGGG -3'
Sequencing Primer
(F):5'- ATGCAGGCTCTGACTGGC -3'
(R):5'- AGATCCTTCTAGCTGGGGAGACG -3'
|
Posted On |
2018-07-23 |