Incidental Mutation 'RF035:Mamld1'
ID |
604559 |
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 # |
RF035 (G1)
|
Quality Score |
135.467 |
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) |
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: 98.7%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
T |
TTTGGCTGCC |
1: 82,891,310 (GRCm39) |
|
probably benign |
Het |
Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCCGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
AI837181 |
G |
GGCT |
19: 5,475,266 (GRCm39) |
|
probably benign |
Het |
Amfr |
GCC |
GCCGGCGCGAGCTCC |
8: 94,738,920 (GRCm39) |
|
probably benign |
Het |
Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
TAT |
TATTATTATTATTATGAT |
3: 37,104,907 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
GAG |
GAGTAG |
X: 7,486,293 (GRCm39) |
|
probably null |
Het |
Calhm1 |
CTGTGGCTGTGGCTGTGGCTGTGG |
CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG |
19: 47,129,692 (GRCm39) |
|
probably benign |
Het |
Chga |
G |
GCAT |
12: 102,527,686 (GRCm39) |
|
probably benign |
Het |
E4f1 |
CGC |
CGCTGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
E4f1 |
CCG |
CCGGCG |
17: 24,674,169 (GRCm39) |
|
probably benign |
Het |
Eps8 |
C |
CTCAG |
6: 137,494,068 (GRCm39) |
|
probably null |
Het |
Exd2 |
GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC |
GCAGCCACAGC |
12: 80,522,674 (GRCm39) |
|
probably benign |
Het |
Exd2 |
CAGCCAGAGC |
CAGC |
12: 80,522,729 (GRCm39) |
|
probably benign |
Het |
Gm10447 |
AAAAAAAAAGAAAAA |
AAAAAA |
11: 53,347,165 (GRCm39) |
|
probably benign |
Het |
Gm10521 |
CTCTCTCTCT |
CTCTCTCTCTCTCT |
1: 171,723,860 (GRCm39) |
|
probably null |
Het |
Gm8369 |
TGTG |
TGTGCGAGTG |
19: 11,489,137 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
CACACACACACACACACTTAC |
CAC |
14: 62,646,090 (GRCm39) |
|
probably benign |
Het |
Ier5l |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
2: 30,363,832 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,285,782 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CAG |
CAGCCAAAG |
1: 83,019,867 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CCACCACAGC |
CCACCACAGCCACAGTCACCACAGC |
1: 83,020,002 (GRCm39) |
|
probably benign |
Het |
Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,530,501 (GRCm39) |
|
probably null |
Het |
Manbal |
CGATAGAAT |
C |
2: 157,237,932 (GRCm39) |
|
probably null |
Het |
Map1a |
GCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA |
2: 121,136,782 (GRCm39) |
|
probably benign |
Het |
Mcph1 |
CTCT |
CTCTTCT |
8: 18,702,541 (GRCm39) |
|
probably benign |
Het |
Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
GATACACGTTAGCAGTGAGGAGCAAGCTGA |
GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA |
2: 119,458,060 (GRCm39) |
|
probably benign |
Het |
Or2t49 |
TGGAGGTGGATTGG |
TG |
11: 58,393,208 (GRCm39) |
|
probably benign |
Het |
P4ha2 |
CCAGGTG |
C |
11: 54,001,061 (GRCm39) |
|
probably benign |
Het |
Pdik1l |
CCACCA |
CCACCAACACCA |
4: 134,006,821 (GRCm39) |
|
probably benign |
Het |
Polr1has |
CACCAC |
CACCACCCCCACCACCACCACAACCAC |
17: 37,275,958 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC |
GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,767 (GRCm39) |
|
probably benign |
Het |
Rfx4 |
TCTCTCTCTCTCTCT |
TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT |
10: 84,694,344 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
GCTAAAAAAAAAAAAAAAAA |
G |
15: 36,010,981 (GRCm39) |
|
probably benign |
Het |
Rpgrip1 |
AGG |
AGGGGG |
14: 52,386,850 (GRCm39) |
|
probably benign |
Het |
Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
Strn |
AGTC |
AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC |
17: 78,984,714 (GRCm39) |
|
probably null |
Het |
Tcof1 |
AAGAT |
AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT |
18: 60,966,625 (GRCm39) |
|
probably benign |
Het |
Tfeb |
AGC |
AGCCGC |
17: 48,097,036 (GRCm39) |
|
probably benign |
Het |
Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
Trav6d-5 |
ATTTTT |
ATTTTTTTTTT |
14: 53,032,791 (GRCm39) |
|
probably benign |
Het |
Triobp |
CAGGACTCCCTGTGCCCAACGG |
CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
Ttf2 |
TTCT |
TTCTTCT |
3: 100,870,473 (GRCm39) |
|
probably benign |
Het |
Vat1l |
C |
T |
8: 115,016,069 (GRCm39) |
L320F |
probably damaging |
Het |
Xirp2 |
TT |
TTTAT |
2: 67,355,888 (GRCm39) |
|
probably benign |
Het |
Yipf3 |
AGAGGA |
AGA |
17: 46,559,898 (GRCm39) |
|
probably benign |
Het |
Zfp933 |
TT |
TTTGCGT |
4: 147,910,188 (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 |
70,162,444 (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 |
|
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'- TGTTGCTGAAGGTAAAGGGC -3'
Sequencing Primer
(F):5'- GGTGTCCTCTAGTGTCAAAAGCC -3'
(R):5'- AAAGGGCTCAGGTGCTTC -3'
|
Posted On |
2019-12-04 |