Incidental Mutation 'R8213:Mamdc4'
ID |
636236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mamdc4
|
Ensembl Gene |
ENSMUSG00000026941 |
Gene Name |
MAM domain containing 4 |
Synonyms |
LOC381352 |
MMRRC Submission |
067655-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R8213 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25453124-25461328 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 25456368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 709
(T709M)
|
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 |
probably benign
Transcript: ENSMUST00000095117
AA Change: T709M
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000092735 Gene: ENSMUSG00000026941 AA Change: T709M
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: T705M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000109861 Gene: ENSMUSG00000026941 AA Change: T705M
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: T606M
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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
C |
15: 60,791,605 (GRCm39) |
Y277C |
probably damaging |
Het |
Acss1 |
T |
A |
2: 150,461,630 (GRCm39) |
D651V |
possibly damaging |
Het |
Aktip |
G |
T |
8: 91,851,494 (GRCm39) |
P243H |
possibly damaging |
Het |
Arl11 |
T |
G |
14: 61,548,714 (GRCm39) |
S175A |
probably benign |
Het |
Aup1 |
A |
G |
6: 83,031,588 (GRCm39) |
|
probably benign |
Het |
Avil |
A |
T |
10: 126,844,190 (GRCm39) |
I250F |
probably damaging |
Het |
Btnl6 |
A |
T |
17: 34,727,857 (GRCm39) |
|
probably null |
Het |
Ccdc7b |
C |
A |
8: 129,904,772 (GRCm39) |
Q137K |
probably benign |
Het |
Cdk11b |
G |
A |
4: 155,724,338 (GRCm39) |
E319K |
unknown |
Het |
Chka |
A |
C |
19: 3,935,882 (GRCm39) |
E196A |
probably damaging |
Het |
Depdc5 |
C |
T |
5: 33,094,981 (GRCm39) |
R753C |
probably damaging |
Het |
Dhx57 |
T |
A |
17: 80,582,585 (GRCm39) |
D340V |
possibly damaging |
Het |
Dicer1 |
A |
T |
12: 104,668,952 (GRCm39) |
D1243E |
probably benign |
Het |
Dnajb9 |
A |
T |
12: 44,253,916 (GRCm39) |
L164M |
probably benign |
Het |
Dock6 |
A |
G |
9: 21,742,740 (GRCm39) |
V785A |
possibly damaging |
Het |
Efcab5 |
T |
C |
11: 77,006,897 (GRCm39) |
Y909C |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,208,783 (GRCm39) |
S226T |
probably benign |
Het |
Fgd6 |
A |
T |
10: 93,879,914 (GRCm39) |
D256V |
probably benign |
Het |
Fhl5 |
A |
T |
4: 25,207,113 (GRCm39) |
Y218* |
probably null |
Het |
Filip1 |
C |
A |
9: 79,725,374 (GRCm39) |
A1082S |
probably benign |
Het |
Heatr5a |
G |
A |
12: 51,938,226 (GRCm39) |
T1484M |
probably damaging |
Het |
Herc1 |
G |
T |
9: 66,358,170 (GRCm39) |
R2417L |
probably damaging |
Het |
Hnrnpr |
A |
G |
4: 136,044,486 (GRCm39) |
|
probably benign |
Het |
Igsf5 |
A |
T |
16: 96,174,188 (GRCm39) |
I73F |
probably damaging |
Het |
Il17ra |
T |
C |
6: 120,449,995 (GRCm39) |
V91A |
probably benign |
Het |
Inpp5f |
A |
G |
7: 128,281,529 (GRCm39) |
D510G |
probably damaging |
Het |
Kbtbd3 |
A |
G |
9: 4,331,269 (GRCm39) |
K548E |
probably damaging |
Het |
Kdm5d |
T |
A |
Y: 941,515 (GRCm39) |
C1239S |
probably damaging |
Het |
Mybbp1a |
T |
A |
11: 72,335,547 (GRCm39) |
Y353N |
probably damaging |
Het |
Nepn |
A |
T |
10: 52,267,855 (GRCm39) |
E40D |
probably benign |
Het |
Nhsl3 |
A |
T |
4: 129,115,252 (GRCm39) |
V1070D |
possibly damaging |
Het |
Npat |
G |
T |
9: 53,481,870 (GRCm39) |
E1193* |
probably null |
Het |
Nrde2 |
G |
A |
12: 100,097,262 (GRCm39) |
S846L |
probably benign |
Het |
Nup205 |
T |
C |
6: 35,202,138 (GRCm39) |
V1290A |
probably benign |
Het |
Or10a49 |
C |
A |
7: 108,467,726 (GRCm39) |
V212L |
probably benign |
Het |
Or4d10b |
A |
G |
19: 12,036,456 (GRCm39) |
V220A |
probably benign |
Het |
Or5g9 |
T |
A |
2: 85,551,845 (GRCm39) |
L32Q |
probably null |
Het |
Pde6a |
A |
T |
18: 61,353,768 (GRCm39) |
K31M |
possibly damaging |
Het |
Pms2 |
C |
T |
5: 143,851,589 (GRCm39) |
R169C |
probably damaging |
Het |
Polr2g |
A |
T |
19: 8,775,621 (GRCm39) |
L30Q |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,380,755 (GRCm39) |
M423L |
probably benign |
Het |
Pramel30 |
A |
T |
4: 144,057,030 (GRCm39) |
D71V |
probably benign |
Het |
Prdm15 |
T |
A |
16: 97,608,260 (GRCm39) |
H679L |
probably damaging |
Het |
Prl4a1 |
T |
G |
13: 28,207,369 (GRCm39) |
Y214* |
probably null |
Het |
Prlr |
C |
T |
15: 10,329,328 (GRCm39) |
T601M |
possibly damaging |
Het |
Psen2 |
A |
C |
1: 180,073,256 (GRCm39) |
S22A |
probably benign |
Het |
Ralgapa1 |
C |
A |
12: 55,769,699 (GRCm39) |
R764L |
probably damaging |
Het |
Scgb2b11 |
T |
C |
7: 31,908,833 (GRCm39) |
E89G |
probably damaging |
Het |
Serpina10 |
T |
C |
12: 103,594,536 (GRCm39) |
I228V |
probably benign |
Het |
Serpinb1a |
T |
A |
13: 33,026,982 (GRCm39) |
H320L |
probably damaging |
Het |
Sesn2 |
C |
A |
4: 132,225,364 (GRCm39) |
Q267H |
possibly damaging |
Het |
Sgsm1 |
A |
T |
5: 113,398,877 (GRCm39) |
W1019R |
probably damaging |
Het |
Sqle |
A |
G |
15: 59,193,151 (GRCm39) |
|
probably null |
Het |
Syt14 |
T |
C |
1: 192,669,137 (GRCm39) |
M39V |
probably benign |
Het |
Tgm7 |
A |
G |
2: 120,931,545 (GRCm39) |
V206A |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,897,094 (GRCm39) |
|
probably null |
Het |
Trpv1 |
T |
C |
11: 73,145,077 (GRCm39) |
F721S |
probably damaging |
Het |
Ttll10 |
A |
T |
4: 156,120,691 (GRCm39) |
M433K |
probably benign |
Het |
Vmn1r216 |
T |
C |
13: 23,283,695 (GRCm39) |
I126T |
probably benign |
Het |
Vmn2r108 |
G |
A |
17: 20,690,350 (GRCm39) |
S494F |
probably benign |
Het |
Vwa3b |
C |
T |
1: 37,168,020 (GRCm39) |
A603V |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,307,210 (GRCm39) |
N19K |
probably damaging |
Het |
Zfp397 |
T |
A |
18: 24,093,779 (GRCm39) |
N421K |
probably damaging |
Het |
Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly 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 |
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 |
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'- TCCCTGCAAAGAAGTGAAGTTTAG -3'
(R):5'- AACTTTGAACGGGACTCCTGC -3'
Sequencing Primer
(F):5'- AGTTTAGACGGGACCAGCC -3'
(R):5'- AACGGGACTCCTGCAGCTG -3'
|
Posted On |
2020-07-13 |