Incidental Mutation 'R4591:Mamdc4'
ID |
342800 |
Institutional Source |
Beutler Lab
|
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 # |
R4591 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
25453124-25461328 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25454609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1068
(M1068L)
|
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: M1068L
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000092735 Gene: ENSMUSG00000026941 AA Change: M1068L
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 benign
Transcript: ENSMUST00000114223
AA Change: M1064L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000109861 Gene: ENSMUSG00000026941 AA Change: M1064L
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: ENSMUST00000134689
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135288
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142288
|
Predicted Effect |
unknown
Transcript: ENSMUST00000152237
AA Change: M965L
|
SMART Domains |
Protein: ENSMUSP00000119789 Gene: ENSMUSG00000026941 AA Change: M965L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153008
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152124
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144395
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
T |
C |
3: 68,777,599 (GRCm39) |
S187P |
possibly damaging |
Het |
4932438H23Rik |
T |
C |
16: 90,852,959 (GRCm39) |
N59S |
probably damaging |
Het |
Abca15 |
A |
T |
7: 119,981,636 (GRCm39) |
D1030V |
probably damaging |
Het |
Acmsd |
A |
T |
1: 127,676,934 (GRCm39) |
N153I |
probably damaging |
Het |
Adprh |
C |
A |
16: 38,266,345 (GRCm39) |
V266L |
probably benign |
Het |
Aldh5a1 |
G |
A |
13: 25,107,991 (GRCm39) |
P217S |
probably damaging |
Het |
Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
Alyref |
C |
T |
11: 120,486,799 (GRCm39) |
R154Q |
probably benign |
Het |
Ano6 |
T |
A |
15: 95,841,308 (GRCm39) |
C468* |
probably null |
Het |
Aox3 |
A |
T |
1: 58,191,815 (GRCm39) |
I456F |
probably damaging |
Het |
Art4 |
A |
G |
6: 136,831,755 (GRCm39) |
Y129H |
probably damaging |
Het |
Asb16 |
C |
A |
11: 102,167,551 (GRCm39) |
H306N |
probably damaging |
Het |
Atp8a2 |
C |
A |
14: 59,892,078 (GRCm39) |
R1090L |
probably benign |
Het |
Brap |
G |
T |
5: 121,800,113 (GRCm39) |
V1F |
probably null |
Het |
C1qb |
C |
A |
4: 136,609,528 (GRCm39) |
G31W |
probably damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,275,425 (GRCm39) |
Y666H |
probably benign |
Het |
Casr |
T |
C |
16: 36,320,732 (GRCm39) |
N472S |
probably benign |
Het |
Ccdc91 |
T |
G |
6: 147,491,963 (GRCm39) |
S282A |
unknown |
Het |
Cd300lg |
A |
G |
11: 101,937,006 (GRCm39) |
T164A |
probably benign |
Het |
Cd79b |
A |
T |
11: 106,202,872 (GRCm39) |
D243E |
probably damaging |
Het |
Cdh6 |
C |
A |
15: 13,051,572 (GRCm39) |
V354F |
possibly damaging |
Het |
Cdhr2 |
A |
G |
13: 54,863,497 (GRCm39) |
N126S |
probably benign |
Het |
Cep192 |
A |
T |
18: 67,968,039 (GRCm39) |
N841I |
probably damaging |
Het |
Cngb1 |
T |
C |
8: 95,980,012 (GRCm39) |
T963A |
probably damaging |
Het |
Col16a1 |
A |
G |
4: 129,955,592 (GRCm39) |
|
probably null |
Het |
Coro1a |
A |
G |
7: 126,302,164 (GRCm39) |
V61A |
probably damaging |
Het |
Crocc |
T |
A |
4: 140,745,983 (GRCm39) |
D1712V |
probably damaging |
Het |
Ddn |
T |
C |
15: 98,705,687 (GRCm39) |
D3G |
possibly damaging |
Het |
Dnal1 |
T |
C |
12: 84,180,627 (GRCm39) |
F89S |
probably benign |
Het |
Dusp3 |
T |
A |
11: 101,864,446 (GRCm39) |
|
probably benign |
Het |
Dyrk3 |
C |
A |
1: 131,057,895 (GRCm39) |
G58C |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,479,279 (GRCm39) |
F2775S |
probably benign |
Het |
Frk |
A |
G |
10: 34,481,829 (GRCm39) |
N373S |
probably benign |
Het |
Glmn |
A |
G |
5: 107,708,917 (GRCm39) |
|
probably null |
Het |
Gm11565 |
A |
T |
11: 99,805,769 (GRCm39) |
T54S |
possibly damaging |
Het |
Gm14410 |
A |
G |
2: 176,885,820 (GRCm39) |
I148T |
possibly damaging |
Het |
Gm21834 |
T |
A |
17: 58,048,880 (GRCm39) |
H112L |
possibly damaging |
Het |
Gm5862 |
A |
G |
5: 26,224,486 (GRCm39) |
I161T |
possibly damaging |
Het |
Grid2 |
G |
T |
6: 64,297,086 (GRCm39) |
G483V |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 106,995,533 (GRCm39) |
S1293T |
probably benign |
Het |
Il1a |
G |
A |
2: 129,148,447 (GRCm39) |
R88W |
probably damaging |
Het |
Il20rb |
A |
T |
9: 100,357,043 (GRCm39) |
V29D |
possibly damaging |
Het |
Ilvbl |
C |
T |
10: 78,419,139 (GRCm39) |
L463F |
probably benign |
Het |
Kif17 |
A |
G |
4: 138,005,110 (GRCm39) |
E225G |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,366,419 (GRCm39) |
F227L |
probably damaging |
Het |
Lrrc43 |
A |
G |
5: 123,639,227 (GRCm39) |
M419V |
probably benign |
Het |
Magel2 |
A |
G |
7: 62,030,837 (GRCm39) |
Q1247R |
unknown |
Het |
Mdn1 |
T |
G |
4: 32,707,636 (GRCm39) |
S1642A |
probably damaging |
Het |
Mtarc1 |
T |
C |
1: 184,539,365 (GRCm39) |
E102G |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,655,506 (GRCm39) |
E819G |
probably benign |
Het |
Naa15 |
T |
C |
3: 51,349,345 (GRCm39) |
L38P |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,440,048 (GRCm39) |
R542G |
probably benign |
Het |
Or10c1 |
C |
T |
17: 37,522,010 (GRCm39) |
V245I |
probably benign |
Het |
Or4d2b |
A |
G |
11: 87,780,375 (GRCm39) |
S116P |
probably benign |
Het |
Or5ac19 |
A |
C |
16: 59,089,776 (GRCm39) |
F85V |
possibly damaging |
Het |
Or5b125-ps1 |
ACAC |
ACACGCAC |
19: 13,056,266 (GRCm39) |
|
noncoding transcript |
Het |
Pbxip1 |
T |
A |
3: 89,353,467 (GRCm39) |
L249Q |
probably benign |
Het |
Pla2g7 |
T |
C |
17: 43,911,450 (GRCm39) |
S201P |
probably damaging |
Het |
Psmd1 |
G |
T |
1: 86,055,926 (GRCm39) |
V763F |
probably benign |
Het |
Ptp4a2 |
A |
G |
4: 129,740,308 (GRCm39) |
E124G |
probably benign |
Het |
Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
Rbks |
T |
A |
5: 31,817,352 (GRCm39) |
K139M |
possibly damaging |
Het |
Rgs22 |
T |
A |
15: 36,100,282 (GRCm39) |
E268D |
probably benign |
Het |
Slc16a9 |
T |
G |
10: 70,118,710 (GRCm39) |
L343R |
probably damaging |
Het |
Smagp |
T |
C |
15: 100,519,860 (GRCm39) |
I55V |
probably damaging |
Het |
Sox13 |
T |
C |
1: 133,311,421 (GRCm39) |
S604G |
probably damaging |
Het |
St6gal1 |
G |
T |
16: 23,140,044 (GRCm39) |
V72F |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,485,606 (GRCm39) |
V247A |
probably benign |
Het |
Susd3 |
A |
T |
13: 49,384,736 (GRCm39) |
M217K |
possibly damaging |
Het |
Tas2r129 |
T |
A |
6: 132,928,574 (GRCm39) |
N170K |
probably benign |
Het |
Tmem245 |
C |
A |
4: 56,910,204 (GRCm39) |
A515S |
probably damaging |
Het |
Tpte |
T |
C |
8: 22,817,791 (GRCm39) |
V259A |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,952,332 (GRCm39) |
|
probably null |
Het |
Ttc28 |
G |
A |
5: 111,371,147 (GRCm39) |
R532H |
probably damaging |
Het |
Vwa5a |
A |
T |
9: 38,646,916 (GRCm39) |
N529I |
possibly damaging |
Het |
Zfp574 |
T |
C |
7: 24,778,969 (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 |
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 |
|
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'- AGTTCAATCTGGACTTGTAGCC -3'
(R):5'- GCAGTGCTCACTCAACTTCC -3'
Sequencing Primer
(F):5'- CAATCTGGACTTGTAGCCACTGG -3'
(R):5'- TTCCCTCAAGCTCGAGATACAGATG -3'
|
Posted On |
2015-09-24 |