Incidental Mutation 'RF041:Mamld1'
| ID |
604851 |
| 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 # |
RF041 (G1)
|
| Quality Score |
143.467 |
|
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) |
AGC to AGCCGC
at 70162435 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: 98.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
TGAGGA |
TGA |
12: 72,928,050 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
CCAGCAAAAACAGAAAGGAAAAGG |
CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG |
6: 131,529,836 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AGGTGGCCAG |
AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,857 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAGGTGGC |
AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC |
6: 131,529,855 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
CTCTTC |
CTC |
17: 36,274,093 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
GGCTGC |
GGCTGCGGCATCCTGTGCTGC |
4: 155,989,557 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,257 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGG |
CGGTGG |
17: 5,045,870 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
CACTGTGGG |
C |
8: 21,433,928 (GRCm39) |
|
probably null |
Het |
| Btnl1 |
C |
T |
17: 34,600,342 (GRCm39) |
T246M |
probably benign |
Het |
| Cdc40 |
C |
T |
10: 40,719,119 (GRCm39) |
D337N |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTACT |
17: 46,811,780 (GRCm39) |
|
probably null |
Het |
| Defb22 |
GCTGGCCTTTGC |
GCTGGCCTTTGCCGCAGACCTGGCCTTTGC |
2: 152,327,743 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GGGGTGGAAG |
GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG |
7: 30,466,598 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CTCACCCACTCCTGGTGT |
CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT |
17: 23,981,135 (GRCm39) |
|
probably null |
Het |
| Flywch1 |
GT |
GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT |
17: 23,981,151 (GRCm39) |
|
probably null |
Het |
| Gabre |
CTCCGG |
CTCCGGATCCGG |
X: 71,313,655 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,122 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Il2 |
GG |
GGGCTTGAAGTGCG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
CTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT |
9: 106,447,812 (GRCm39) |
|
probably null |
Het |
| Kif12 |
GGC |
GGCCTCCACCCGGCGTGC |
4: 63,089,662 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGTTGCAG |
5: 25,520,773 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
CTGCTGCTGCC |
CTGCTGCTGCCCTTGCTGCTGCC |
3: 92,925,448 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCTGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCACC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGG |
CCTCACCTGGGGCCTTGGGCTCACCTGGGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Ngfr |
CAGG |
C |
11: 95,478,337 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GATACACGTTAGCAGTGAGGAGCAAGCTGA |
GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA |
2: 119,458,060 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GTGAGGAGCAAGCTGA |
GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA |
2: 119,458,074 (GRCm39) |
|
probably benign |
Het |
| Phc1 |
TG |
TGCTGCGG |
6: 122,300,559 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,695,369 (GRCm39) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GGTGGTGGT |
GGTGGTGGTCGTGGTGGT |
7: 127,384,504 (GRCm39) |
|
probably benign |
Het |
| Sfr1 |
ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC |
ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC |
19: 47,721,307 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
AGC |
AGCCCCTGC |
19: 26,608,421 (GRCm39) |
|
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGATCCCCTTGGC |
AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC |
18: 60,966,644 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CCCCTTG |
CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG |
18: 60,966,648 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,025 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG |
AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG |
4: 43,177,338 (GRCm39) |
|
probably benign |
Het |
| Usp19 |
GTGTGTGTGTGTGTGTGTGTGTGTGT |
GTGTGTGTGTGTGTGTGTGTGTGTGTGT |
9: 108,371,187 (GRCm39) |
|
unknown |
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 |
70,162,432 (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 |
|
|
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'- GATATCTGCTCTGCCTACCAG -3'
(R):5'- ACATGGAGGCCATCTTCTGG -3'
Sequencing Primer
(F):5'- GCTCTGCCTACCAGCACCC -3'
(R):5'- CTTGGCTCAGAAACAAAATGTGAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation