Incidental Mutation 'IGL01994:Mamdc4'
| ID |
183627 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mamdc4
|
| Ensembl Gene |
ENSMUSG00000026941 |
| Gene Name |
MAM domain containing 4 |
| Synonyms |
LOC381352 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL01994
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25453124-25461328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25458546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 317
(I317N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039156]
[ENSMUST00000095117]
[ENSMUST00000114223]
|
| AlphaFold |
A2AJA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039156
|
| SMART Domains |
Protein: ENSMUSP00000037417
Gene: ENSMUSG00000036504
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ocnus
|
5 |
116 |
1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095117
AA Change: I321N
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: I321N
| 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 |
possibly damaging
Transcript: ENSMUST00000114223
AA Change: I317N
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: I317N
| 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: ENSMUST00000147096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152124
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152237
AA Change: I297N
|
| SMART Domains |
Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: I297N
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
A |
T |
13: 12,305,563 (GRCm39) |
Y418N |
probably benign |
Het |
| Adam15 |
T |
C |
3: 89,248,812 (GRCm39) |
|
probably benign |
Het |
| Adam32 |
C |
A |
8: 25,392,812 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,345,680 (GRCm39) |
C1574S |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,397,926 (GRCm39) |
S187P |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,156,336 (GRCm39) |
V949A |
possibly damaging |
Het |
| Atxn3 |
T |
C |
12: 101,908,439 (GRCm39) |
T138A |
probably benign |
Het |
| Atxn7l2 |
C |
T |
3: 108,110,859 (GRCm39) |
R559Q |
probably damaging |
Het |
| Bicra |
G |
T |
7: 15,706,741 (GRCm39) |
S1233R |
possibly damaging |
Het |
| Cacybp |
G |
T |
1: 160,034,206 (GRCm39) |
N101K |
probably damaging |
Het |
| Cops7b |
T |
C |
1: 86,528,828 (GRCm39) |
L185P |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,420,814 (GRCm39) |
D899G |
possibly damaging |
Het |
| Cyp4f37 |
C |
T |
17: 32,844,150 (GRCm39) |
R85* |
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,550,437 (GRCm39) |
N3294T |
possibly damaging |
Het |
| Elmo1 |
T |
A |
13: 20,526,634 (GRCm39) |
Y395N |
probably damaging |
Het |
| Fam234b |
T |
A |
6: 135,202,203 (GRCm39) |
Y308* |
probably null |
Het |
| Fam43a |
A |
G |
16: 30,419,481 (GRCm39) |
K22E |
probably damaging |
Het |
| Fcer2a |
T |
C |
8: 3,738,302 (GRCm39) |
N123D |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,027 (GRCm39) |
C218R |
unknown |
Het |
| Gria4 |
T |
C |
9: 4,537,726 (GRCm39) |
Y194C |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,507,396 (GRCm39) |
E435G |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,844,725 (GRCm39) |
E506G |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,989,948 (GRCm39) |
S1160N |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,267,417 (GRCm39) |
E605G |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,445,411 (GRCm39) |
V374A |
probably benign |
Het |
| Ippk |
A |
G |
13: 49,612,093 (GRCm39) |
Q439R |
possibly damaging |
Het |
| Itgam |
G |
A |
7: 127,700,899 (GRCm39) |
V530M |
probably damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,931,429 (GRCm39) |
H47R |
possibly damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,841,057 (GRCm39) |
I162F |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,059,434 (GRCm39) |
T606S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,343,199 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,313,945 (GRCm39) |
I2262T |
probably benign |
Het |
| Mtmr3 |
G |
T |
11: 4,437,938 (GRCm39) |
H839N |
probably benign |
Het |
| Ncr1 |
G |
T |
7: 4,344,253 (GRCm39) |
V177F |
probably benign |
Het |
| Nop58 |
T |
C |
1: 59,743,242 (GRCm39) |
S219P |
probably damaging |
Het |
| Nrg3 |
T |
C |
14: 38,734,043 (GRCm39) |
Y281C |
probably damaging |
Het |
| Nsf |
A |
G |
11: 103,819,608 (GRCm39) |
S54P |
probably damaging |
Het |
| Or56b6 |
A |
T |
7: 104,925,153 (GRCm39) |
|
noncoding transcript |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,102 (GRCm39) |
S7T |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,685,801 (GRCm39) |
K730R |
probably damaging |
Het |
| Polr2g |
A |
T |
19: 8,771,740 (GRCm39) |
|
probably benign |
Het |
| Rps13 |
A |
G |
7: 115,932,925 (GRCm39) |
|
probably benign |
Het |
| Scgb2b7 |
A |
G |
7: 31,403,409 (GRCm39) |
I99T |
probably benign |
Het |
| Slc22a27 |
G |
T |
19: 7,887,108 (GRCm39) |
H260Q |
possibly damaging |
Het |
| Spata18 |
G |
T |
5: 73,814,944 (GRCm39) |
|
probably null |
Het |
| Tns2 |
A |
G |
15: 102,019,814 (GRCm39) |
E560G |
possibly damaging |
Het |
| Trbv16 |
T |
C |
6: 41,128,715 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,851,520 (GRCm39) |
I1829N |
probably damaging |
Het |
| Vcl |
C |
T |
14: 21,053,311 (GRCm39) |
T442I |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,880,731 (GRCm39) |
I24N |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,451 (GRCm39) |
D217G |
probably damaging |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,394 (GRCm39) |
Y834H |
probably damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,045,636 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation