Incidental Mutation 'R7225:Mamdc4'
| ID |
562075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamdc4
|
| Ensembl Gene |
ENSMUSG00000026941 |
| Gene Name |
MAM domain containing 4 |
| Synonyms |
LOC381352 |
| MMRRC Submission |
045297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R7225 (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 25455558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 890
(H890R)
|
| 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: H890R
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: H890R
| 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: H886R
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: H886R
| 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: H787R
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
T |
C |
12: 110,637,299 (GRCm39) |
|
probably benign |
Het |
| 5730480H06Rik |
T |
A |
5: 48,537,575 (GRCm39) |
|
probably null |
Het |
| Actn4 |
A |
T |
7: 28,598,124 (GRCm39) |
V492D |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,438,270 (GRCm39) |
E1041G |
probably benign |
Het |
| Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
| Cd22 |
C |
T |
7: 30,577,059 (GRCm39) |
A83T |
not run |
Het |
| Cdan1 |
T |
C |
2: 120,555,393 (GRCm39) |
T783A |
probably benign |
Het |
| Cdh9 |
C |
T |
15: 16,856,159 (GRCm39) |
S733F |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,740,236 (GRCm39) |
F2282S |
unknown |
Het |
| Chst9 |
T |
C |
18: 15,585,718 (GRCm39) |
K282E |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,270,396 (GRCm39) |
D232N |
probably damaging |
Het |
| Clpb |
T |
A |
7: 101,360,672 (GRCm39) |
L234Q |
probably damaging |
Het |
| Cluh |
T |
G |
11: 74,557,232 (GRCm39) |
|
probably null |
Het |
| Cnp |
C |
T |
11: 100,471,413 (GRCm39) |
Q352* |
probably null |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
| Dtx3 |
C |
T |
10: 127,027,358 (GRCm39) |
C272Y |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,756 (GRCm39) |
I1156T |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,055,917 (GRCm39) |
V1697E |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,390,058 (GRCm39) |
D211G |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,454,988 (GRCm39) |
K36R |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,325 (GRCm39) |
I2659T |
possibly damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,460,033 (GRCm39) |
W1893R |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,514,391 (GRCm39) |
L256Q |
probably damaging |
Het |
| Gpc5 |
T |
G |
14: 115,789,710 (GRCm39) |
V528G |
probably damaging |
Het |
| Gria2 |
T |
A |
3: 80,709,938 (GRCm39) |
|
probably benign |
Het |
| Htatip2 |
A |
G |
7: 49,420,604 (GRCm39) |
E150G |
possibly damaging |
Het |
| Jak3 |
C |
A |
8: 72,138,155 (GRCm39) |
Q869K |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,061,844 (GRCm39) |
V1218A |
probably benign |
Het |
| Kcnf1 |
A |
G |
12: 17,225,694 (GRCm39) |
C176R |
possibly damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,604,111 (GRCm39) |
V88A |
probably benign |
Het |
| Lmod3 |
T |
A |
6: 97,224,345 (GRCm39) |
D492V |
probably benign |
Het |
| Lurap1l |
A |
C |
4: 80,829,718 (GRCm39) |
S43R |
probably benign |
Het |
| Mertk |
T |
G |
2: 128,643,482 (GRCm39) |
N960K |
possibly damaging |
Het |
| Nudt9 |
C |
A |
5: 104,212,966 (GRCm39) |
D346E |
probably benign |
Het |
| Obi1 |
T |
C |
14: 104,717,294 (GRCm39) |
T360A |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,432,857 (GRCm39) |
|
probably null |
Het |
| Or5an1 |
A |
T |
19: 12,260,831 (GRCm39) |
T140S |
probably benign |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Paxbp1 |
T |
C |
16: 90,823,956 (GRCm39) |
E564G |
probably damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,577,490 (GRCm39) |
R623C |
possibly damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,410,337 (GRCm39) |
V2615F |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,593,541 (GRCm39) |
T58A |
possibly damaging |
Het |
| Por |
A |
G |
5: 135,761,441 (GRCm39) |
D309G |
probably benign |
Het |
| Ppp2r5e |
T |
C |
12: 75,515,353 (GRCm39) |
K261R |
probably damaging |
Het |
| Ptpn18 |
C |
T |
1: 34,511,927 (GRCm39) |
T366I |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,000,928 (GRCm39) |
G1006E |
possibly damaging |
Het |
| Rpl12 |
C |
T |
2: 32,851,909 (GRCm39) |
|
probably benign |
Het |
| Rpsa |
T |
G |
9: 119,960,222 (GRCm39) |
F262V |
probably benign |
Het |
| Sh3pxd2a |
G |
T |
19: 47,255,828 (GRCm39) |
N991K |
probably damaging |
Het |
| Shank2 |
T |
A |
7: 143,838,762 (GRCm39) |
N19K |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,073,274 (GRCm39) |
T61A |
probably benign |
Het |
| Sipa1l3 |
A |
C |
7: 29,098,853 (GRCm39) |
V472G |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,458,315 (GRCm39) |
S313P |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,912,081 (GRCm39) |
|
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,314,862 (GRCm39) |
V266E |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,988,184 (GRCm39) |
C833R |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,961,520 (GRCm39) |
T812A |
unknown |
Het |
| Tnfsf4 |
A |
G |
1: 161,244,821 (GRCm39) |
D170G |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,082 (GRCm39) |
N357S |
probably damaging |
Het |
| Txk |
C |
T |
5: 72,858,057 (GRCm39) |
D418N |
probably damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,033,773 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
G |
A |
10: 130,222,552 (GRCm39) |
P556L |
probably damaging |
Het |
| Zfp1007 |
T |
C |
5: 109,825,015 (GRCm39) |
H145R |
possibly damaging |
Het |
| Zfp442 |
T |
C |
2: 150,250,925 (GRCm39) |
N326D |
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 |
|
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 |
|
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'- TGAGCTCTTGACGCCTTGTG -3'
(R):5'- TCTTGGGGTCCTTGGATAGACC -3'
Sequencing Primer
(F):5'- GTGCTCTCTTCCACGTGGAC -3'
(R):5'- TGGATAGACCATACCACAGGGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation