Incidental Mutation 'R7520:Mamdc4'
| ID |
582608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamdc4
|
| Ensembl Gene |
ENSMUSG00000026941 |
| Gene Name |
MAM domain containing 4 |
| Synonyms |
LOC381352 |
| MMRRC Submission |
045592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R7520 (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 A
at 25455360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 928
(I928F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092735
(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 |
possibly damaging
Transcript: ENSMUST00000095117
AA Change: I928F
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: I928F
| 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: I924F
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: I924F
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: I825F
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
C |
4: 144,281,859 (GRCm39) |
Y311C |
probably damaging |
Het |
| Abca1 |
A |
T |
4: 53,078,114 (GRCm39) |
I886N |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,433,694 (GRCm39) |
H41R |
probably benign |
Het |
| Adck1 |
T |
C |
12: 88,425,975 (GRCm39) |
|
probably null |
Het |
| Atat1 |
G |
T |
17: 36,208,706 (GRCm39) |
T398K |
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,167,031 (GRCm39) |
E1144G |
possibly damaging |
Het |
| Cand2 |
G |
T |
6: 115,762,212 (GRCm39) |
E213* |
probably null |
Het |
| Cep350 |
A |
G |
1: 155,791,375 (GRCm39) |
S1250P |
probably benign |
Het |
| Cln3 |
A |
G |
7: 126,180,852 (GRCm39) |
L63P |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,484,808 (GRCm39) |
C486* |
probably null |
Het |
| Ctnnal1 |
A |
T |
4: 56,837,838 (GRCm39) |
M264K |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,812,008 (GRCm39) |
D738V |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,104,887 (GRCm39) |
M1901V |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,345,255 (GRCm39) |
T2200A |
probably benign |
Het |
| Dolk |
A |
G |
2: 30,174,555 (GRCm39) |
Y497H |
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,478,195 (GRCm39) |
V396A |
probably benign |
Het |
| Epsti1 |
A |
T |
14: 78,200,883 (GRCm39) |
|
probably null |
Het |
| Erich3 |
A |
G |
3: 154,468,763 (GRCm39) |
T1072A |
unknown |
Het |
| Ero1a |
A |
T |
14: 45,544,032 (GRCm39) |
N57K |
probably damaging |
Het |
| Exph5 |
T |
C |
9: 53,278,514 (GRCm39) |
|
probably null |
Het |
| Frmd5 |
C |
T |
2: 121,384,745 (GRCm39) |
|
probably null |
Het |
| H2-Q7 |
A |
G |
17: 35,661,686 (GRCm39) |
T310A |
probably benign |
Het |
| Hecw2 |
G |
T |
1: 53,965,215 (GRCm39) |
A537E |
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,131,333 (GRCm39) |
D567V |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,375,368 (GRCm39) |
N361Y |
probably damaging |
Het |
| Keap1 |
A |
G |
9: 21,144,787 (GRCm39) |
S408P |
probably benign |
Het |
| Mboat4 |
T |
C |
8: 34,591,028 (GRCm39) |
F155S |
probably benign |
Het |
| Mtbp |
A |
G |
15: 55,440,742 (GRCm39) |
|
probably benign |
Het |
| Nmi |
T |
G |
2: 51,842,492 (GRCm39) |
K200T |
probably benign |
Het |
| Or2n1e |
G |
A |
17: 38,586,331 (GRCm39) |
C223Y |
probably benign |
Het |
| Or8g19 |
G |
T |
9: 39,055,414 (GRCm39) |
R6L |
probably benign |
Het |
| Pcdha7 |
G |
A |
18: 37,108,366 (GRCm39) |
V464M |
probably damaging |
Het |
| Peg10 |
T |
A |
6: 4,756,796 (GRCm39) |
N457K |
unknown |
Het |
| Plekha7 |
A |
T |
7: 115,736,519 (GRCm39) |
I944N |
possibly damaging |
Het |
| Plpp1 |
T |
A |
13: 112,937,781 (GRCm39) |
D13E |
possibly damaging |
Het |
| Pnpla6 |
G |
T |
8: 3,587,508 (GRCm39) |
V1070F |
probably damaging |
Het |
| Riox1 |
T |
A |
12: 83,998,545 (GRCm39) |
Y360* |
probably null |
Het |
| Sdhb |
A |
G |
4: 140,693,882 (GRCm39) |
D50G |
possibly damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,708,385 (GRCm39) |
V126D |
possibly damaging |
Het |
| Slmap |
A |
G |
14: 26,148,575 (GRCm39) |
V612A |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,721,702 (GRCm39) |
I46F |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Taar7b |
T |
C |
10: 23,876,381 (GRCm39) |
L182P |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,776,542 (GRCm39) |
M606L |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,271,043 (GRCm39) |
D444E |
probably benign |
Het |
| Tsen54 |
A |
G |
11: 115,711,797 (GRCm39) |
T405A |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,946,245 (GRCm39) |
W492R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,728,123 (GRCm39) |
T5566S |
unknown |
Het |
| Utp20 |
A |
T |
10: 88,654,457 (GRCm39) |
M210K |
probably damaging |
Het |
| Zfand1 |
A |
G |
3: 10,411,009 (GRCm39) |
V115A |
probably 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 |
|
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 |
|
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'- GCCCATCTTGGAGGGAAATG -3'
(R):5'- CTTCTGGTACCACATGAGCG -3'
Sequencing Primer
(F):5'- CCCATCTTGGAGGGAAATGTCATC -3'
(R):5'- GTCCCCAATCCAGGTGAGAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation