Incidental Mutation 'R9456:Mdga2'
ID |
714599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdga2
|
Ensembl Gene |
ENSMUSG00000034912 |
Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
Synonyms |
6720489L24Rik, Mdga2, Adp, 9330209L04Rik, Mamdc1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9456 (G1)
|
Quality Score |
189.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
66512834-67269323 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66615532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 692
(S692G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046761
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000223141]
|
AlphaFold |
P60755 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037181
AA Change: S692G
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000046761 Gene: ENSMUSG00000034912 AA Change: S692G
Domain | Start | End | E-Value | Type |
IGc2
|
122 |
186 |
1.38e-15 |
SMART |
IG
|
213 |
307 |
1.79e0 |
SMART |
IGc2
|
324 |
386 |
1.56e-14 |
SMART |
IGc2
|
419 |
493 |
4.43e-5 |
SMART |
low complexity region
|
495 |
507 |
N/A |
INTRINSIC |
IGc2
|
525 |
591 |
1.97e-11 |
SMART |
IG_like
|
621 |
687 |
2.5e0 |
SMART |
Blast:FN3
|
707 |
795 |
4e-40 |
BLAST |
MAM
|
812 |
990 |
3.4e-49 |
SMART |
transmembrane domain
|
999 |
1021 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101379
|
SMART Domains |
Protein: ENSMUSP00000098930 Gene: ENSMUSG00000034912
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SCOP:d1cs6a1
|
40 |
72 |
2e-5 |
SMART |
Blast:IG
|
47 |
72 |
9e-11 |
BLAST |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000137608 Gene: ENSMUSG00000034912 AA Change: S682G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
53 |
117 |
1.38e-15 |
SMART |
IG
|
144 |
238 |
1.79e0 |
SMART |
IGc2
|
255 |
317 |
1.56e-14 |
SMART |
IGc2
|
350 |
424 |
4.43e-5 |
SMART |
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
IGc2
|
456 |
522 |
1.97e-11 |
SMART |
IG_like
|
552 |
618 |
2.5e0 |
SMART |
Blast:FN3
|
638 |
726 |
3e-40 |
BLAST |
MAM
|
736 |
914 |
1.38e-49 |
SMART |
transmembrane domain
|
923 |
945 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222167
AA Change: S623G
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223141
AA Change: S623G
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice that paternally inherit an allele disrupted by transgene insertion exhibit varying degrees of abnormalities in the skull, paw, and tail. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
C |
18: 10,645,121 (GRCm39) |
D391G |
probably benign |
Het |
Arhgdia |
A |
C |
11: 120,470,068 (GRCm39) |
W202G |
probably damaging |
Het |
Atp2a3 |
A |
T |
11: 72,871,131 (GRCm39) |
D575V |
probably benign |
Het |
Cep350 |
C |
A |
1: 155,744,457 (GRCm39) |
V2121L |
probably benign |
Het |
Clcn2 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 20,534,702 (GRCm39) |
|
probably benign |
Het |
Cldn9 |
A |
T |
17: 23,902,556 (GRCm39) |
V23E |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
Cmbl |
A |
G |
15: 31,589,948 (GRCm39) |
D226G |
probably damaging |
Het |
Dennd4b |
C |
T |
3: 90,178,515 (GRCm39) |
T537I |
probably damaging |
Het |
Dnah7b |
C |
A |
1: 46,165,953 (GRCm39) |
D539E |
possibly damaging |
Het |
Fam219a |
T |
C |
4: 41,521,871 (GRCm39) |
T70A |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,942,571 (GRCm39) |
V488E |
possibly damaging |
Het |
Gm3336 |
A |
G |
8: 71,174,740 (GRCm39) |
*96W |
probably null |
Het |
Hectd1 |
A |
G |
12: 51,832,584 (GRCm39) |
I930T |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,506,053 (GRCm39) |
C3824* |
probably null |
Het |
Ift140 |
T |
C |
17: 25,254,758 (GRCm39) |
F413L |
probably benign |
Het |
Itfg1 |
A |
G |
8: 86,565,566 (GRCm39) |
V90A |
probably benign |
Het |
Jph4 |
A |
T |
14: 55,351,090 (GRCm39) |
W309R |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
Klhl5 |
T |
C |
5: 65,305,939 (GRCm39) |
F302S |
probably damaging |
Het |
Klk1b8 |
T |
C |
7: 43,453,177 (GRCm39) |
M256T |
probably benign |
Het |
Klre1 |
A |
T |
6: 129,559,368 (GRCm39) |
R99S |
probably benign |
Het |
Krt79 |
T |
C |
15: 101,839,904 (GRCm39) |
T364A |
probably benign |
Het |
Lin7a |
C |
T |
10: 107,218,483 (GRCm39) |
P131L |
possibly damaging |
Het |
Lrrc49 |
A |
G |
9: 60,594,699 (GRCm39) |
Y9H |
probably benign |
Het |
Lrrc8a |
T |
A |
2: 30,145,663 (GRCm39) |
I159N |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,392,668 (GRCm39) |
V1017M |
|
Het |
Nol4 |
T |
C |
18: 23,172,897 (GRCm39) |
D68G |
probably benign |
Het |
Or4f53 |
T |
C |
2: 111,088,348 (GRCm39) |
V296A |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,515 (GRCm39) |
V254A |
probably damaging |
Het |
Pigw |
C |
A |
11: 84,768,040 (GRCm39) |
A430S |
probably benign |
Het |
Pla2g4c |
T |
C |
7: 13,077,900 (GRCm39) |
L356P |
probably damaging |
Het |
Prorp |
T |
C |
12: 55,385,015 (GRCm39) |
V410A |
probably damaging |
Het |
Prr5 |
A |
G |
15: 84,585,682 (GRCm39) |
T226A |
probably benign |
Het |
Pygo1 |
C |
T |
9: 72,833,056 (GRCm39) |
|
probably benign |
Het |
Rnf214 |
A |
G |
9: 45,779,286 (GRCm39) |
I333T |
possibly damaging |
Het |
Septin3 |
A |
G |
15: 82,167,352 (GRCm39) |
I86V |
probably benign |
Het |
Slc30a3 |
AGGGCTTACCTGAGCGG |
AGG |
5: 31,246,889 (GRCm39) |
|
probably null |
Het |
Socs5 |
C |
A |
17: 87,442,266 (GRCm39) |
T402K |
probably damaging |
Het |
Speer3 |
T |
A |
5: 13,846,368 (GRCm39) |
N229K |
|
Het |
Stk16 |
T |
C |
1: 75,187,804 (GRCm39) |
|
probably benign |
Het |
Taar7d |
T |
A |
10: 23,903,287 (GRCm39) |
F56L |
probably benign |
Het |
Tmprss2 |
C |
T |
16: 97,392,669 (GRCm39) |
V93I |
probably benign |
Het |
Tnpo2 |
G |
A |
8: 85,774,015 (GRCm39) |
E350K |
probably benign |
Het |
Tor1aip2 |
C |
T |
1: 155,937,525 (GRCm39) |
P87S |
possibly damaging |
Het |
Trgv7 |
A |
T |
13: 19,362,385 (GRCm39) |
R25* |
probably null |
Het |
Ush2a |
A |
G |
1: 188,558,589 (GRCm39) |
E3606G |
probably benign |
Het |
Zeb1 |
C |
T |
18: 5,766,709 (GRCm39) |
Q407* |
probably null |
Het |
Zfp609 |
A |
G |
9: 65,611,125 (GRCm39) |
S613P |
|
Het |
Zfp735 |
A |
G |
11: 73,602,403 (GRCm39) |
N449S |
possibly damaging |
Het |
|
Other mutations in Mdga2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01343:Mdga2
|
APN |
12 |
66,769,883 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01632:Mdga2
|
APN |
12 |
66,676,672 (GRCm39) |
splice site |
probably benign |
|
IGL01843:Mdga2
|
APN |
12 |
66,769,905 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02230:Mdga2
|
APN |
12 |
66,702,197 (GRCm39) |
nonsense |
probably null |
|
IGL02348:Mdga2
|
APN |
12 |
66,597,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02473:Mdga2
|
APN |
12 |
66,597,385 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02795:Mdga2
|
APN |
12 |
66,736,206 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02901:Mdga2
|
APN |
12 |
66,844,583 (GRCm39) |
splice site |
probably benign |
|
IGL03373:Mdga2
|
APN |
12 |
66,763,496 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4362001:Mdga2
|
UTSW |
12 |
66,844,542 (GRCm39) |
missense |
possibly damaging |
0.83 |
PIT4377001:Mdga2
|
UTSW |
12 |
66,763,469 (GRCm39) |
missense |
probably damaging |
0.99 |
R0106:Mdga2
|
UTSW |
12 |
66,763,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Mdga2
|
UTSW |
12 |
66,763,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R0110:Mdga2
|
UTSW |
12 |
66,517,700 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0218:Mdga2
|
UTSW |
12 |
66,701,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R0450:Mdga2
|
UTSW |
12 |
66,517,700 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0801:Mdga2
|
UTSW |
12 |
66,533,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R0847:Mdga2
|
UTSW |
12 |
66,769,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R1056:Mdga2
|
UTSW |
12 |
66,769,894 (GRCm39) |
missense |
probably damaging |
0.97 |
R1086:Mdga2
|
UTSW |
12 |
66,552,876 (GRCm39) |
splice site |
probably benign |
|
R1335:Mdga2
|
UTSW |
12 |
66,763,516 (GRCm39) |
splice site |
probably null |
|
R1382:Mdga2
|
UTSW |
12 |
66,517,690 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1490:Mdga2
|
UTSW |
12 |
66,844,530 (GRCm39) |
missense |
probably benign |
0.01 |
R1521:Mdga2
|
UTSW |
12 |
66,615,700 (GRCm39) |
missense |
probably benign |
0.00 |
R1556:Mdga2
|
UTSW |
12 |
66,597,367 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1676:Mdga2
|
UTSW |
12 |
66,615,547 (GRCm39) |
nonsense |
probably null |
|
R1676:Mdga2
|
UTSW |
12 |
66,615,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R1698:Mdga2
|
UTSW |
12 |
66,736,109 (GRCm39) |
missense |
probably damaging |
0.97 |
R1954:Mdga2
|
UTSW |
12 |
66,533,482 (GRCm39) |
splice site |
probably benign |
|
R2069:Mdga2
|
UTSW |
12 |
66,615,691 (GRCm39) |
nonsense |
probably null |
|
R2077:Mdga2
|
UTSW |
12 |
66,702,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R2118:Mdga2
|
UTSW |
12 |
66,915,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R2146:Mdga2
|
UTSW |
12 |
66,915,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R2158:Mdga2
|
UTSW |
12 |
66,736,155 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2189:Mdga2
|
UTSW |
12 |
66,519,970 (GRCm39) |
splice site |
probably null |
|
R2293:Mdga2
|
UTSW |
12 |
66,615,759 (GRCm39) |
nonsense |
probably null |
|
R2886:Mdga2
|
UTSW |
12 |
66,553,044 (GRCm39) |
splice site |
probably benign |
|
R2960:Mdga2
|
UTSW |
12 |
66,676,752 (GRCm39) |
nonsense |
probably null |
|
R3937:Mdga2
|
UTSW |
12 |
67,267,980 (GRCm39) |
unclassified |
probably benign |
|
R4437:Mdga2
|
UTSW |
12 |
66,519,972 (GRCm39) |
splice site |
probably null |
|
R4514:Mdga2
|
UTSW |
12 |
66,763,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R4693:Mdga2
|
UTSW |
12 |
66,844,407 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4719:Mdga2
|
UTSW |
12 |
66,517,775 (GRCm39) |
unclassified |
probably benign |
|
R4744:Mdga2
|
UTSW |
12 |
66,844,501 (GRCm39) |
missense |
probably benign |
0.01 |
R4756:Mdga2
|
UTSW |
12 |
66,844,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R4781:Mdga2
|
UTSW |
12 |
66,844,396 (GRCm39) |
splice site |
probably null |
|
R5022:Mdga2
|
UTSW |
12 |
66,517,534 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5108:Mdga2
|
UTSW |
12 |
66,533,515 (GRCm39) |
missense |
probably benign |
0.43 |
R5479:Mdga2
|
UTSW |
12 |
66,701,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R5710:Mdga2
|
UTSW |
12 |
66,553,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R5816:Mdga2
|
UTSW |
12 |
66,701,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R5822:Mdga2
|
UTSW |
12 |
66,702,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R5996:Mdga2
|
UTSW |
12 |
66,844,537 (GRCm39) |
missense |
probably benign |
0.00 |
R6038:Mdga2
|
UTSW |
12 |
66,676,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Mdga2
|
UTSW |
12 |
66,676,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R6297:Mdga2
|
UTSW |
12 |
66,553,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R6484:Mdga2
|
UTSW |
12 |
66,676,843 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6830:Mdga2
|
UTSW |
12 |
66,769,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R6912:Mdga2
|
UTSW |
12 |
66,552,889 (GRCm39) |
missense |
probably benign |
0.01 |
R6971:Mdga2
|
UTSW |
12 |
66,597,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R7053:Mdga2
|
UTSW |
12 |
66,736,158 (GRCm39) |
missense |
probably benign |
0.41 |
R7069:Mdga2
|
UTSW |
12 |
66,533,526 (GRCm39) |
missense |
probably benign |
0.31 |
R7381:Mdga2
|
UTSW |
12 |
66,615,670 (GRCm39) |
missense |
probably benign |
0.44 |
R7474:Mdga2
|
UTSW |
12 |
66,533,535 (GRCm39) |
nonsense |
probably null |
|
R7559:Mdga2
|
UTSW |
12 |
66,520,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R7581:Mdga2
|
UTSW |
12 |
66,553,029 (GRCm39) |
missense |
probably damaging |
0.99 |
R7596:Mdga2
|
UTSW |
12 |
66,552,897 (GRCm39) |
missense |
probably damaging |
0.99 |
R7745:Mdga2
|
UTSW |
12 |
66,736,125 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7745:Mdga2
|
UTSW |
12 |
66,736,124 (GRCm39) |
missense |
probably damaging |
0.99 |
R7852:Mdga2
|
UTSW |
12 |
66,517,724 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8144:Mdga2
|
UTSW |
12 |
66,702,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R8319:Mdga2
|
UTSW |
12 |
67,267,803 (GRCm39) |
missense |
unknown |
|
R8715:Mdga2
|
UTSW |
12 |
66,915,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R8977:Mdga2
|
UTSW |
12 |
66,844,409 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9138:Mdga2
|
UTSW |
12 |
66,615,663 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9177:Mdga2
|
UTSW |
12 |
66,517,481 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9223:Mdga2
|
UTSW |
12 |
66,615,634 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9248:Mdga2
|
UTSW |
12 |
66,736,226 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9264:Mdga2
|
UTSW |
12 |
66,560,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R9381:Mdga2
|
UTSW |
12 |
66,597,304 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9633:Mdga2
|
UTSW |
12 |
66,736,206 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Mdga2
|
UTSW |
12 |
66,736,217 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Mdga2
|
UTSW |
12 |
66,615,727 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCACAGACATTGTTCTCACC -3'
(R):5'- TGAGAGCCTATCCAATACGAGTG -3'
Sequencing Primer
(F):5'- GATTTGCCCTGACATCAATCAAGG -3'
(R):5'- TCCAATACGAGTGCTGACCTATGAG -3'
|
Posted On |
2022-06-15 |