Incidental Mutation 'RF015:Maml2'
| ID |
603482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml2
|
| Ensembl Gene |
ENSMUSG00000031925 |
| Gene Name |
mastermind like transcriptional coactivator 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF015 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
13297957-13709388 bp(+) (GRCm38) |
| Type of Mutation |
small deletion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
ACAGCAGCAGCAACAGCAGCAGCAGCAGCA to ACAGCAACAGCAGCAGCAGCAGCA
at 13621456 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034401]
[ENSMUST00000159294]
|
| AlphaFold |
F6U238 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034401
|
| SMART Domains |
Protein: ENSMUSP00000034401
Gene: ENSMUSG00000031925
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159294
|
| SMART Domains |
Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
227 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
331 |
N/A |
INTRINSIC |
|
SCOP:d1lsha3
|
385 |
459 |
5e-3 |
SMART |
|
low complexity region
|
523 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175351
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.5%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
TTATTATTATTAT |
TTATTATTATTATTAGTATTATTATTAT |
3: 37,050,748 (GRCm38) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,552,859 (GRCm38) |
|
probably benign |
Het |
| 5430401F13Rik |
AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,552,861 (GRCm38) |
|
probably benign |
Het |
| 5430401F13Rik |
CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,552,856 (GRCm38) |
|
probably benign |
Het |
| Abcb4 |
GAA |
G |
5: 8,896,594 (GRCm38) |
|
probably null |
Het |
| Agap1 |
T |
A |
1: 89,634,263 (GRCm38) |
Y214* |
probably null |
Het |
| Arhgap17 |
CTGTTGTTG |
CTGTTG |
7: 123,286,862 (GRCm38) |
|
probably benign |
Het |
| Arid1a |
AGGC |
A |
4: 133,752,831 (GRCm38) |
|
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,545,997 (GRCm38) |
F82L |
probably damaging |
Het |
| Calhm1 |
TGGCTGTGGCTG |
TGGCTGTGGCTGGGGCTGTGGCTG |
19: 47,141,256 (GRCm38) |
|
probably benign |
Het |
| Capn9 |
T |
C |
8: 124,618,482 (GRCm38) |
F683L |
probably benign |
Het |
| Cep131 |
CTGTTGTT |
CTGTTGTTGTT |
11: 120,072,968 (GRCm38) |
|
probably benign |
Het |
| Cgnl1 |
AGCG |
AGCGGCG |
9: 71,724,715 (GRCm38) |
|
probably benign |
Het |
| Chga |
AGC |
AGCGGC |
12: 102,561,420 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
GACACA |
GACACAGTGCCCAAGGATGTGACATACACA |
9: 87,040,432 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CTGCCCAGGGA |
CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA |
9: 87,040,438 (GRCm38) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,818,077 (GRCm38) |
D3557N |
probably damaging |
Het |
| Dnmt1 |
ACAGTTCCTACCTCGTT |
ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT |
9: 20,910,129 (GRCm38) |
|
probably null |
Het |
| Dnmt1 |
GGAGCACAGTTCCTACCTCGTT |
GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT |
9: 20,910,124 (GRCm38) |
|
probably null |
Het |
| Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,874,756 (GRCm38) |
|
probably benign |
Het |
| Exd2 |
AGCAGCCGCAGCC |
AGCAGCC |
12: 80,475,917 (GRCm38) |
|
probably benign |
Het |
| Fam49a |
T |
A |
12: 12,369,938 (GRCm38) |
S294R |
probably benign |
Het |
| Fam71e1 |
TGGGTCTGAGGGAGGA |
TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA |
7: 44,500,522 (GRCm38) |
|
probably null |
Het |
| Gatad1 |
A |
T |
5: 3,647,523 (GRCm38) |
C33S |
possibly damaging |
Het |
| Gm7534 |
T |
C |
4: 134,193,027 (GRCm38) |
H609R |
probably benign |
Het |
| H2-DMb1 |
A |
G |
17: 34,155,502 (GRCm38) |
Y42C |
probably damaging |
Het |
| Hars2 |
G |
T |
18: 36,785,945 (GRCm38) |
R86L |
probably damaging |
Het |
| Hsdl2 |
GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
4: 59,610,640 (GRCm38) |
|
probably benign |
Het |
| Lce1m |
TGCCAC |
TGCCACTGCTGCGGCCAC |
3: 93,018,148 (GRCm38) |
|
probably benign |
Het |
| Lrmp |
AGCACATTG |
AGCACATTGCGCACATTG |
6: 145,173,783 (GRCm38) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 71,118,841 (GRCm38) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 71,118,820 (GRCm38) |
|
probably benign |
Het |
| Mast4 |
GGACAAGCTGTGAGTTGGGGAACCCGGGAG |
GG |
13: 102,739,247 (GRCm38) |
|
probably null |
Het |
| Mucl2 |
T |
A |
15: 103,897,430 (GRCm38) |
N87I |
probably benign |
Het |
| Myh3 |
ATTAC |
ATTACTTAC |
11: 67,086,356 (GRCm38) |
|
probably null |
Het |
| Nup214 |
T |
C |
2: 32,034,706 (GRCm38) |
V1749A |
probably benign |
Het |
| Olfr678 |
A |
G |
7: 105,070,048 (GRCm38) |
I194V |
probably damaging |
Het |
| Pcdhgb4 |
A |
T |
18: 37,721,802 (GRCm38) |
N417Y |
probably damaging |
Het |
| Pclo |
G |
T |
5: 14,515,269 (GRCm38) |
L16F |
unknown |
Het |
| Pik3c2g |
T |
A |
6: 139,754,771 (GRCm38) |
N262K |
|
Het |
| Ppp1r13l |
ACAGGCACCCTGCTCCGGC |
AC |
7: 19,368,542 (GRCm38) |
|
probably benign |
Het |
| Rfx4 |
CTCTCT |
CTCTCTCTCTCTCTCTTTCTCT |
10: 84,858,489 (GRCm38) |
|
probably benign |
Het |
| Rnf41 |
C |
T |
10: 128,435,410 (GRCm38) |
A63V |
probably benign |
Het |
| Sirt1 |
C |
T |
10: 63,337,016 (GRCm38) |
A163T |
probably damaging |
Het |
| Six3 |
GCG |
GCGTCG |
17: 85,621,370 (GRCm38) |
|
probably benign |
Het |
| Six4 |
TG |
T |
12: 73,103,582 (GRCm38) |
|
probably null |
Het |
| Skor2 |
A |
G |
18: 76,860,788 (GRCm38) |
E735G |
probably damaging |
Het |
| Slc26a8 |
TCTCTGGCTCTGGCTCTGGCTCTGGCTC |
TCTCTGGCTCTGGCTCTGGCTC |
17: 28,638,341 (GRCm38) |
|
probably benign |
Het |
| Smco2 |
T |
TTCG |
6: 146,852,663 (GRCm38) |
|
probably benign |
Het |
| Strada |
A |
G |
11: 106,171,020 (GRCm38) |
I172T |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,302,248 (GRCm38) |
I2469V |
probably benign |
Het |
| Tcof1 |
C |
CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA |
18: 60,833,584 (GRCm38) |
|
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,579,742 (GRCm38) |
Y86C |
probably damaging |
Het |
| Ttll7 |
T |
A |
3: 146,979,658 (GRCm38) |
F882L |
probably benign |
Het |
| Usp2 |
TGTGACCTGTTCTTCACTTAC |
TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC |
9: 44,089,109 (GRCm38) |
|
probably benign |
Het |
| Utp18 |
A |
G |
11: 93,885,461 (GRCm38) |
L66P |
probably damaging |
Het |
| Wdr66 |
GGAGGAGGAGGAG |
GGAGGAGGAGGAGGAG |
5: 123,254,242 (GRCm38) |
|
probably benign |
Het |
| Wdr66 |
TCTCA |
T |
5: 123,274,161 (GRCm38) |
|
probably benign |
Het |
| Wnt7a |
C |
T |
6: 91,394,423 (GRCm38) |
E186K |
possibly damaging |
Het |
| Zfp384 |
AGGCCCAGGCCC |
AGGCCCAGGCCCCGGCCCAGGCCC |
6: 125,036,481 (GRCm38) |
|
probably benign |
Het |
| Zgrf1 |
A |
G |
3: 127,563,233 (GRCm38) |
I703V |
probably benign |
Het |
|
| Other mutations in Maml2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Maml2
|
APN |
9 |
13,621,604 (GRCm38) |
unclassified |
probably benign |
|
|
IGL00424:Maml2
|
APN |
9 |
13,620,912 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02711:Maml2
|
APN |
9 |
13,620,063 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL03079:Maml2
|
APN |
9 |
13,621,616 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03217:Maml2
|
APN |
9 |
13,619,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4304:Maml2
|
UTSW |
9 |
13,621,459 (GRCm38) |
small deletion |
probably benign |
|
|
FR4449:Maml2
|
UTSW |
9 |
13,621,456 (GRCm38) |
small deletion |
probably benign |
|
|
PIT4810001:Maml2
|
UTSW |
9 |
13,620,024 (GRCm38) |
missense |
|
|
|
R0102:Maml2
|
UTSW |
9 |
13,705,932 (GRCm38) |
synonymous |
silent |
|
|
R0318:Maml2
|
UTSW |
9 |
13,620,594 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0380:Maml2
|
UTSW |
9 |
13,621,100 (GRCm38) |
nonsense |
probably null |
|
|
R1433:Maml2
|
UTSW |
9 |
13,706,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1449:Maml2
|
UTSW |
9 |
13,620,684 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1789:Maml2
|
UTSW |
9 |
13,697,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2173:Maml2
|
UTSW |
9 |
13,621,616 (GRCm38) |
unclassified |
probably benign |
|
|
R2363:Maml2
|
UTSW |
9 |
13,621,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2426:Maml2
|
UTSW |
9 |
13,706,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2880:Maml2
|
UTSW |
9 |
13,620,597 (GRCm38) |
splice site |
probably null |
|
|
R3981:Maml2
|
UTSW |
9 |
13,621,068 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4094:Maml2
|
UTSW |
9 |
13,620,153 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4117:Maml2
|
UTSW |
9 |
13,705,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4282:Maml2
|
UTSW |
9 |
13,620,110 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4618:Maml2
|
UTSW |
9 |
13,620,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4921:Maml2
|
UTSW |
9 |
13,621,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4957:Maml2
|
UTSW |
9 |
13,620,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5195:Maml2
|
UTSW |
9 |
13,621,114 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5428:Maml2
|
UTSW |
9 |
13,705,895 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5448:Maml2
|
UTSW |
9 |
13,706,467 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5450:Maml2
|
UTSW |
9 |
13,706,467 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5455:Maml2
|
UTSW |
9 |
13,705,743 (GRCm38) |
nonsense |
probably null |
|
|
R5620:Maml2
|
UTSW |
9 |
13,697,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5973:Maml2
|
UTSW |
9 |
13,621,619 (GRCm38) |
unclassified |
probably benign |
|
|
R6009:Maml2
|
UTSW |
9 |
13,620,998 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6054:Maml2
|
UTSW |
9 |
13,621,399 (GRCm38) |
small deletion |
probably benign |
|
|
R6257:Maml2
|
UTSW |
9 |
13,620,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6727:Maml2
|
UTSW |
9 |
13,621,551 (GRCm38) |
unclassified |
probably benign |
|
|
R6824:Maml2
|
UTSW |
9 |
13,697,217 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6854:Maml2
|
UTSW |
9 |
13,705,835 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R6998:Maml2
|
UTSW |
9 |
13,621,185 (GRCm38) |
unclassified |
probably benign |
|
|
R7047:Maml2
|
UTSW |
9 |
13,620,881 (GRCm38) |
unclassified |
probably benign |
|
|
R7233:Maml2
|
UTSW |
9 |
13,620,771 (GRCm38) |
missense |
|
|
|
R7326:Maml2
|
UTSW |
9 |
13,621,607 (GRCm38) |
missense |
|
|
|
R7612:Maml2
|
UTSW |
9 |
13,706,485 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7652:Maml2
|
UTSW |
9 |
13,621,649 (GRCm38) |
missense |
|
|
|
R7699:Maml2
|
UTSW |
9 |
13,621,089 (GRCm38) |
missense |
|
|
|
R7700:Maml2
|
UTSW |
9 |
13,621,089 (GRCm38) |
missense |
|
|
|
R7803:Maml2
|
UTSW |
9 |
13,621,276 (GRCm38) |
small insertion |
probably benign |
|
|
R7803:Maml2
|
UTSW |
9 |
13,621,275 (GRCm38) |
small insertion |
probably benign |
|
|
R7803:Maml2
|
UTSW |
9 |
13,621,254 (GRCm38) |
small insertion |
probably benign |
|
|
R8425:Maml2
|
UTSW |
9 |
13,620,117 (GRCm38) |
missense |
|
|
|
R8810:Maml2
|
UTSW |
9 |
13,621,622 (GRCm38) |
missense |
|
|
|
R9277:Maml2
|
UTSW |
9 |
13,620,576 (GRCm38) |
missense |
|
|
|
R9359:Maml2
|
UTSW |
9 |
13,621,673 (GRCm38) |
nonsense |
probably null |
|
|
R9403:Maml2
|
UTSW |
9 |
13,621,673 (GRCm38) |
nonsense |
probably null |
|
|
RF044:Maml2
|
UTSW |
9 |
13,621,456 (GRCm38) |
small deletion |
probably benign |
|
|
X0063:Maml2
|
UTSW |
9 |
13,620,341 (GRCm38) |
missense |
probably benign |
0.09 |
|
Z1177:Maml2
|
UTSW |
9 |
13,706,590 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGCAAACCTTCTCTCTTGC -3'
(R):5'- ATATCCCAGGCCTGTGATGG -3'
Sequencing Primer
(F):5'- TCTTGCACTATACCCAGCAG -3'
(R):5'- GACTGAGTTTGCATTTTCTGAAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation