Incidental Mutation 'RF049:Mamld1'
| ID |
605117 |
| 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 # |
RF049 (G1)
|
| Quality Score |
107.469 |
|
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) |
GCA to GCATCA
at 70162439 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: 99.3%
- 20x: 98.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
GTAGGA |
G |
5: 26,053,486 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,976 (GRCm39) |
|
probably benign |
Het |
| Begain |
GCGCCCCCGCC |
GCGCCCCCGCCCCCGCC |
12: 108,999,340 (GRCm39) |
|
probably benign |
Het |
| Cdx1 |
GGGGCTG |
GGGGCTGGGGCTG |
18: 61,152,938 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCCGC |
12: 102,527,652 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
CAGCC |
CAGCCCTAGCC |
11: 101,080,418 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
C |
CCCAGCA |
11: 101,080,422 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CCTGGTGT |
CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT |
17: 23,981,145 (GRCm39) |
|
probably null |
Het |
| Gabre |
CTCAGGCTGGGG |
C |
X: 71,313,883 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
AGCTGCAGGAGCAGCCACAGCTGCAGGAG |
AGCTGCAGGAGCCGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAG |
4: 59,610,633 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
AG |
AGATGCAGCAGCAGCCACGG |
4: 59,610,651 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,859 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGC |
CACAGCCACAGCCACAACAGC |
1: 83,020,006 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CTCCAGCTCCAGCTCCAGCTCCAG |
CTCCAGCTCCAGTTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,367 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,390 (GRCm39) |
|
probably benign |
Het |
| Nefh |
ACTTGGCCTCAGCTGG |
ACTTGGCCTCAGCTGGAGCCTTGGCCTCAGCTGG |
11: 4,890,997 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CACGTTAGCAGTGAGGAGCAAGCTGAGA |
CACGTTAGCAGTCAGGAGCAAGCTGAGATAGACGTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,064 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ACTCATGGTCCTGTAGAGCAATGGGGATTC |
ACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCGCTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,772 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
TCGGCCCACTCAGCCCACTCGGCC |
TCGGCCCACTCGGCCCACTCAGCCCACTCGGCC |
5: 129,646,808 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
TCATCAG |
T |
2: 129,451,123 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,150 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
CTGCTGCTGCTGCTG |
CTGCTGCTGCTGCTGATGCTGCTGCTGCTG |
15: 72,673,155 (GRCm39) |
|
probably benign |
Het |
| Triobp |
GACAA |
GACAACCCCAGGACTCCCTGTACCCAACGGAACAA |
15: 78,851,261 (GRCm39) |
|
probably benign |
Het |
| Tspan33 |
G |
GCTGT |
6: 29,709,997 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
CAGAGCCACCAAGTACCT |
C |
7: 11,581,067 (GRCm39) |
|
probably null |
Het |
| Zkscan4 |
AAAAA |
AAAAAA |
13: 21,668,881 (GRCm39) |
|
probably null |
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 |
|
|
RF042:Mamld1
|
UTSW |
X |
70,162,418 (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 |
|
|
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'- GATATCTGCTCTGCCTACCAGC -3'
(R):5'- AGACATGGAGGCCATCTTCTG -3'
Sequencing Primer
(F):5'- TACCAGCACCCCAGGGC -3'
(R):5'- CTTGGCTCAGAAACAAAATGTGAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation