Incidental Mutation 'R0729:Mamdc4'
| ID |
67359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamdc4
|
| Ensembl Gene |
ENSMUSG00000026941 |
| Gene Name |
MAM domain containing 4 |
| Synonyms |
LOC381352 |
| MMRRC Submission |
038910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R0729 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25453124-25461328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25460048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 68
(N68Y)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000095117
AA Change: N72Y
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: N72Y
| 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: N68Y
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: N68Y
| 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: N48Y
|
| SMART Domains |
Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: N48Y
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
A |
11: 72,050,281 (GRCm39) |
A828S |
probably benign |
Het |
| Acsm3 |
T |
C |
7: 119,383,207 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
G |
A |
15: 11,255,769 (GRCm39) |
R446H |
possibly damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,420,398 (GRCm39) |
N849S |
probably damaging |
Het |
| Ankra2 |
A |
G |
13: 98,408,235 (GRCm39) |
D228G |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,412 (GRCm39) |
V375A |
probably damaging |
Het |
| Blvrb |
A |
G |
7: 27,147,555 (GRCm39) |
K5E |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,394,456 (GRCm39) |
N573D |
probably benign |
Het |
| Calhm2 |
C |
A |
19: 47,121,356 (GRCm39) |
G271V |
possibly damaging |
Het |
| Capn13 |
C |
T |
17: 73,629,064 (GRCm39) |
G581E |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,016,288 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,619,753 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,634,111 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crx |
A |
G |
7: 15,605,058 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
T |
C |
19: 39,727,994 (GRCm39) |
|
probably benign |
Het |
| Dcaf8 |
T |
A |
1: 172,000,221 (GRCm39) |
D126E |
probably benign |
Het |
| Ddx31 |
T |
C |
2: 28,764,186 (GRCm39) |
I464T |
probably damaging |
Het |
| Dhx32 |
G |
A |
7: 133,339,150 (GRCm39) |
T155I |
probably benign |
Het |
| Elac2 |
C |
A |
11: 64,889,349 (GRCm39) |
P567T |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,054,444 (GRCm39) |
|
probably benign |
Het |
| Fh1 |
T |
G |
1: 175,442,383 (GRCm39) |
N156H |
probably damaging |
Het |
| Gm10064 |
T |
C |
5: 122,835,584 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14137 |
A |
G |
2: 119,005,834 (GRCm39) |
E131G |
probably benign |
Het |
| Gpr22 |
T |
A |
12: 31,759,312 (GRCm39) |
K233M |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,007,480 (GRCm39) |
N68S |
probably benign |
Het |
| Gypa |
C |
T |
8: 81,223,421 (GRCm39) |
P66S |
unknown |
Het |
| Htr2a |
A |
T |
14: 74,879,587 (GRCm39) |
Q72L |
probably benign |
Het |
| Klhdc7b |
C |
T |
15: 89,271,598 (GRCm39) |
R827* |
probably null |
Het |
| Leo1 |
G |
A |
9: 75,364,420 (GRCm39) |
R520Q |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,757 (GRCm39) |
M429V |
probably benign |
Het |
| Lrrc74a |
C |
T |
12: 86,792,353 (GRCm39) |
Q225* |
probably null |
Het |
| Map3k10 |
G |
A |
7: 27,360,992 (GRCm39) |
P507L |
probably damaging |
Het |
| Methig1 |
T |
A |
15: 100,272,870 (GRCm39) |
C68S |
probably benign |
Het |
| Metrn |
C |
T |
17: 26,015,202 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
C |
T |
9: 7,358,290 (GRCm39) |
T392I |
possibly damaging |
Het |
| Mss51 |
A |
T |
14: 20,533,160 (GRCm39) |
I437N |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,014,097 (GRCm39) |
T297A |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,722,243 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
G |
A |
10: 30,567,575 (GRCm39) |
P319S |
probably benign |
Het |
| Nlrp4d |
A |
T |
7: 10,111,612 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,923,535 (GRCm39) |
S6455P |
probably damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,259 (GRCm39) |
N295S |
probably damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Pcdh12 |
A |
G |
18: 38,415,517 (GRCm39) |
I536T |
probably benign |
Het |
| Pex5l |
G |
T |
3: 33,008,685 (GRCm39) |
|
probably benign |
Het |
| Pla2g2e |
A |
C |
4: 138,608,046 (GRCm39) |
K43Q |
possibly damaging |
Het |
| Rasa4 |
T |
C |
5: 136,130,924 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,328,234 (GRCm39) |
R1079W |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,867,411 (GRCm39) |
T803A |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,786,297 (GRCm39) |
N602Y |
probably benign |
Het |
| Slc16a13 |
G |
A |
11: 70,109,857 (GRCm39) |
P215S |
probably damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,734,527 (GRCm39) |
Q54R |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,745,512 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,797,156 (GRCm39) |
N110D |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,060,902 (GRCm39) |
S2010T |
probably damaging |
Het |
| Sun1 |
T |
A |
5: 139,223,619 (GRCm39) |
|
probably benign |
Het |
| Sytl5 |
A |
G |
X: 9,860,736 (GRCm39) |
E717G |
probably damaging |
Het |
| Tle1 |
A |
T |
4: 72,044,679 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
T |
A |
2: 153,033,065 (GRCm39) |
V290E |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,985,060 (GRCm39) |
S179P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,965,153 (GRCm39) |
F1549L |
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,212,631 (GRCm39) |
Y5063F |
possibly damaging |
Het |
| Uroc1 |
T |
A |
6: 90,313,937 (GRCm39) |
Y75N |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,112 (GRCm39) |
T141A |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,868,931 (GRCm39) |
K3128E |
probably damaging |
Het |
| Wdr26 |
T |
C |
1: 181,013,470 (GRCm39) |
|
probably null |
Het |
| Wrn |
T |
A |
8: 33,738,946 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
C |
T |
2: 120,385,729 (GRCm39) |
V13M |
probably damaging |
Het |
| Zfp456 |
G |
A |
13: 67,514,663 (GRCm39) |
H348Y |
probably damaging |
Het |
| Zfpm1 |
G |
A |
8: 123,063,398 (GRCm39) |
R819H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGAGCCTCAGTTCACAGGTAG -3'
(R):5'- GCAGAAGCCCCATCAAAGCTGTATG -3'
Sequencing Primer
(F):5'- GTGGGTTCCCACAGCCATATAC -3'
(R):5'- ATGCAACTTTGTGTGTGACTG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation