Incidental Mutation 'RF042:Mamld1'
| ID |
604894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamld1
|
| Ensembl Gene |
ENSMUSG00000059401 |
| Gene Name |
mastermind-like domain containing 1 |
| Synonyms |
G630014P10Rik |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
RF042 (G1)
|
| Quality Score |
153.468 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
70093846-70199662 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GCAACA to GCAACAACA
at 70162418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082088]
[ENSMUST00000114629]
|
| AlphaFold |
P0C6A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082088
|
| SMART Domains |
Protein: ENSMUSP00000080737
Gene: ENSMUSG00000059401
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
363 |
414 |
3.74e-7 |
PROSPERO |
|
internal_repeat_1
|
418 |
466 |
3.74e-7 |
PROSPERO |
|
low complexity region
|
571 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114629
|
| SMART Domains |
Protein: ENSMUSP00000110276
Gene: ENSMUSG00000059401
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
363 |
414 |
2.31e-7 |
PROSPERO |
|
internal_repeat_1
|
418 |
466 |
2.31e-7 |
PROSPERO |
|
low complexity region
|
571 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
658 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice exhibit normal male genitalia and fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG |
6: 131,529,849 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
GCTGCTG |
GCTGCTGTGACTGCTG |
1: 82,891,305 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,245 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
TTT |
TTTTGTT |
11: 101,071,131 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
TTCTC |
TTC |
17: 46,851,541 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
GGGGCGGAGCACAGTTCCTACCTCGTT |
GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,415 (GRCm39) |
|
probably null |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTACT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,628 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTCC |
GGCTCCTGCTCC |
X: 71,313,653 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TGTG |
TGTGAGTG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Igkv12-89 |
G |
GCAACGCCAT |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTTCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT |
9: 106,447,804 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACAG |
CCACAGACACAG |
1: 83,019,846 (GRCm39) |
|
probably benign |
Het |
| Las1l |
CTTCCT |
CTTCCTTTTCCT |
X: 94,984,226 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
GCCCTGGCCCTGGCCCC |
GCCC |
16: 95,960,497 (GRCm39) |
|
probably null |
Het |
| Lce1m |
CACTGCTGCTGC |
CACTGCTGCTGCAACTGCTGCTGC |
3: 92,925,446 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
| Opa3 |
GCGGGC |
GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC |
7: 18,989,594 (GRCm39) |
|
probably benign |
Het |
| Pdia4 |
CTCTTCCTCCT |
C |
6: 47,785,240 (GRCm39) |
|
probably null |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
| Sbp |
AAGA |
AAGACGCTGACAACAGAGA |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
CTCGGCCCA |
CTCGGCCCAGTCGGCCCA |
5: 129,646,807 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TC |
TCATCATGATCACCATGGTCACCATGATCACTGTGGCC |
15: 76,499,071 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
GC |
GCCACAGCAAC |
8: 109,682,720 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAGCA |
CAGCAGCAAAAGCAGCA |
8: 109,682,730 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mamld1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02484:Mamld1
|
APN |
X |
70,162,258 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
FR4340:Mamld1
|
UTSW |
X |
70,162,452 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Mamld1
|
UTSW |
X |
70,162,445 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Mamld1
|
UTSW |
X |
70,162,441 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Mamld1
|
UTSW |
X |
70,162,424 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Mamld1
|
UTSW |
X |
70,162,418 (GRCm39) |
small insertion |
probably benign |
|
|
R2133:Mamld1
|
UTSW |
X |
70,162,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2277:Mamld1
|
UTSW |
X |
70,162,421 (GRCm39) |
small deletion |
probably benign |
|
|
RF003:Mamld1
|
UTSW |
X |
70,162,426 (GRCm39) |
small insertion |
probably benign |
|
|
RF004:Mamld1
|
UTSW |
X |
70,162,437 (GRCm39) |
nonsense |
probably null |
|
|
RF014:Mamld1
|
UTSW |
X |
70,162,451 (GRCm39) |
small insertion |
probably benign |
|
|
RF015:Mamld1
|
UTSW |
X |
70,162,447 (GRCm39) |
small insertion |
probably benign |
|
|
RF015:Mamld1
|
UTSW |
X |
70,162,426 (GRCm39) |
small insertion |
probably benign |
|
|
RF018:Mamld1
|
UTSW |
X |
70,162,455 (GRCm39) |
small insertion |
probably benign |
|
|
RF022:Mamld1
|
UTSW |
X |
70,162,426 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Mamld1
|
UTSW |
X |
70,162,432 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Mamld1
|
UTSW |
X |
70,162,434 (GRCm39) |
nonsense |
probably null |
|
|
RF033:Mamld1
|
UTSW |
X |
70,162,439 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Mamld1
|
UTSW |
X |
70,162,441 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Mamld1
|
UTSW |
X |
70,162,456 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Mamld1
|
UTSW |
X |
70,162,418 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Mamld1
|
UTSW |
X |
70,162,444 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Mamld1
|
UTSW |
X |
70,162,434 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Mamld1
|
UTSW |
X |
70,162,441 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Mamld1
|
UTSW |
X |
70,162,446 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Mamld1
|
UTSW |
X |
70,162,452 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Mamld1
|
UTSW |
X |
70,162,446 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Mamld1
|
UTSW |
X |
70,162,432 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Mamld1
|
UTSW |
X |
70,162,420 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Mamld1
|
UTSW |
X |
70,162,435 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Mamld1
|
UTSW |
X |
70,162,432 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Mamld1
|
UTSW |
X |
70,162,459 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Mamld1
|
UTSW |
X |
70,162,441 (GRCm39) |
small insertion |
probably benign |
|
|
RF047:Mamld1
|
UTSW |
X |
70,162,445 (GRCm39) |
small insertion |
probably benign |
|
|
RF048:Mamld1
|
UTSW |
X |
70,162,458 (GRCm39) |
nonsense |
probably null |
|
|
RF049:Mamld1
|
UTSW |
X |
70,162,451 (GRCm39) |
small insertion |
probably benign |
|
|
RF049:Mamld1
|
UTSW |
X |
70,162,439 (GRCm39) |
small insertion |
probably benign |
|
|
RF053:Mamld1
|
UTSW |
X |
70,162,458 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Mamld1
|
UTSW |
X |
70,162,443 (GRCm39) |
small insertion |
probably benign |
|
|
RF059:Mamld1
|
UTSW |
X |
70,162,438 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Mamld1
|
UTSW |
X |
70,162,438 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Mamld1
|
UTSW |
X |
70,162,437 (GRCm39) |
nonsense |
probably null |
|
|
RF061:Mamld1
|
UTSW |
X |
70,162,456 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTCCATTCTTGCCAATCTG -3'
(R):5'- GTTGCTGAAGGTAAAGGGCTC -3'
Sequencing Primer
(F):5'- GGTGTCCTCTAGTGTCAAAAGCC -3'
(R):5'- AAAGGGCTCAGGTGCTTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation