Incidental Mutation 'R8464:Mms19'
ID |
656732 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mms19
|
Ensembl Gene |
ENSMUSG00000025159 |
Gene Name |
MMS19 cytosolic iron-sulfur assembly component |
Synonyms |
2610042O15Rik, Mms19l, C86341, Mms19 |
MMRRC Submission |
067908-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R8464 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 41935522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 831
(D831E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026154]
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000167820]
[ENSMUST00000171561]
[ENSMUST00000167927]
[ENSMUST00000169775]
[ENSMUST00000223802]
[ENSMUST00000225968]
|
AlphaFold |
Q9D071 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026154
|
SMART Domains |
Protein: ENSMUSP00000026154 Gene: ENSMUSG00000025157
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
81 |
103 |
N/A |
INTRINSIC |
transmembrane domain
|
115 |
137 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
151 |
289 |
1e-35 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026168
AA Change: D788E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026168 Gene: ENSMUSG00000025159 AA Change: D788E
Domain | Start | End | E-Value | Type |
Pfam:MMS19_N
|
51 |
167 |
1.4e-29 |
PFAM |
Pfam:MMS19_N
|
163 |
270 |
2.4e-44 |
PFAM |
low complexity region
|
329 |
343 |
N/A |
INTRINSIC |
Pfam:MMS19_C
|
484 |
921 |
4.3e-120 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163287
AA Change: D685E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128653 Gene: ENSMUSG00000025159 AA Change: D685E
Domain | Start | End | E-Value | Type |
Pfam:MMS19_N
|
3 |
265 |
9.8e-97 |
PFAM |
Pfam:MMS19_C
|
381 |
818 |
1e-120 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163398
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164776
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000131219 Gene: ENSMUSG00000025159 AA Change: D404E
Domain | Start | End | E-Value | Type |
Pfam:MMS19_C
|
102 |
494 |
2.2e-97 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167820
AA Change: D252E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130399 Gene: ENSMUSG00000025159 AA Change: D252E
Domain | Start | End | E-Value | Type |
Pfam:MMS19_C
|
63 |
286 |
7.9e-56 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171561
AA Change: D831E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130900 Gene: ENSMUSG00000025159 AA Change: D831E
Domain | Start | End | E-Value | Type |
Pfam:MMS19_N
|
51 |
312 |
6.3e-90 |
PFAM |
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
Pfam:MMS19_C
|
528 |
963 |
3.9e-116 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167927
|
SMART Domains |
Protein: ENSMUSP00000132483 Gene: ENSMUSG00000025159
Domain | Start | End | E-Value | Type |
Pfam:MMS19_N
|
51 |
313 |
4.6e-99 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169775
|
SMART Domains |
Protein: ENSMUSP00000128234 Gene: ENSMUSG00000025159
Domain | Start | End | E-Value | Type |
Pfam:MMS19_N
|
51 |
167 |
1.5e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223802
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225968
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,381,934 (GRCm39) |
R1344G |
possibly damaging |
Het |
4933402J07Rik |
C |
A |
8: 88,315,649 (GRCm39) |
D246E |
probably damaging |
Het |
Appl1 |
T |
A |
14: 26,674,985 (GRCm39) |
K191* |
probably null |
Het |
Bptf |
T |
C |
11: 107,022,168 (GRCm39) |
D194G |
probably benign |
Het |
Cacna2d2 |
T |
C |
9: 107,389,206 (GRCm39) |
V223A |
probably damaging |
Het |
Ccdc13 |
T |
C |
9: 121,649,824 (GRCm39) |
K208E |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,811,465 (GRCm39) |
V813A |
probably benign |
Het |
Chst14 |
T |
C |
2: 118,757,524 (GRCm39) |
V131A |
probably benign |
Het |
Ctla4 |
A |
G |
1: 60,951,686 (GRCm39) |
T72A |
probably damaging |
Het |
Dnmt3a |
T |
C |
12: 3,949,635 (GRCm39) |
S531P |
probably benign |
Het |
Erbb4 |
T |
C |
1: 68,348,785 (GRCm39) |
I531V |
probably benign |
Het |
Fam151a |
T |
A |
4: 106,605,102 (GRCm39) |
M488K |
probably benign |
Het |
Foxa1 |
C |
A |
12: 57,589,246 (GRCm39) |
A325S |
probably benign |
Het |
Ighv8-5 |
C |
T |
12: 115,031,309 (GRCm39) |
D77N |
probably benign |
Het |
Itga3 |
C |
A |
11: 94,953,566 (GRCm39) |
A259S |
probably benign |
Het |
Kcnh4 |
T |
C |
11: 100,648,010 (GRCm39) |
N118D |
probably damaging |
Het |
Kif5b |
A |
T |
18: 6,225,381 (GRCm39) |
N216K |
probably damaging |
Het |
Lipo2 |
C |
T |
19: 33,726,023 (GRCm39) |
M76I |
probably benign |
Het |
Man2b1 |
G |
A |
8: 85,820,772 (GRCm39) |
A657T |
possibly damaging |
Het |
Muc21 |
T |
G |
17: 35,933,098 (GRCm39) |
|
probably benign |
Het |
Myo1a |
G |
T |
10: 127,554,453 (GRCm39) |
A808S |
probably benign |
Het |
Myo7b |
A |
T |
18: 32,095,757 (GRCm39) |
W1834R |
probably benign |
Het |
Mypn |
T |
A |
10: 62,966,977 (GRCm39) |
K900* |
probably null |
Het |
Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
Or4b1d |
G |
T |
2: 89,968,947 (GRCm39) |
H179N |
possibly damaging |
Het |
Or4k40 |
A |
G |
2: 111,251,192 (GRCm39) |
Y35H |
probably damaging |
Het |
Or6c212 |
A |
T |
10: 129,558,783 (GRCm39) |
I210N |
possibly damaging |
Het |
Osgepl1 |
A |
G |
1: 53,357,299 (GRCm39) |
T154A |
probably damaging |
Het |
Pacsin2 |
A |
T |
15: 83,263,384 (GRCm39) |
Y82* |
probably null |
Het |
Pomgnt1 |
T |
C |
4: 116,009,348 (GRCm39) |
Y104H |
probably damaging |
Het |
Robo3 |
T |
C |
9: 37,332,726 (GRCm39) |
S857G |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,396,625 (GRCm39) |
I89M |
probably damaging |
Het |
Sdhd |
T |
C |
9: 50,508,431 (GRCm39) |
H145R |
probably benign |
Het |
Selenov |
C |
T |
7: 27,987,897 (GRCm39) |
R260Q |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,580,898 (GRCm39) |
E483G |
probably damaging |
Het |
Ssh2 |
T |
A |
11: 77,345,079 (GRCm39) |
Y1021* |
probably null |
Het |
Syne2 |
C |
T |
12: 76,012,546 (GRCm39) |
A2580V |
probably benign |
Het |
Taf6 |
T |
C |
5: 138,180,924 (GRCm39) |
E219G |
probably damaging |
Het |
Ttc27 |
A |
G |
17: 75,024,925 (GRCm39) |
T7A |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,512,423 (GRCm39) |
K111R |
probably damaging |
Het |
|
Other mutations in Mms19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Mms19
|
APN |
19 |
41,936,672 (GRCm39) |
missense |
probably benign |
0.12 |
IGL00157:Mms19
|
APN |
19 |
41,933,896 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01997:Mms19
|
APN |
19 |
41,944,970 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02081:Mms19
|
APN |
19 |
41,938,418 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02171:Mms19
|
APN |
19 |
41,945,578 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02306:Mms19
|
APN |
19 |
41,954,703 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02678:Mms19
|
APN |
19 |
41,942,915 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02795:Mms19
|
APN |
19 |
41,940,845 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03233:Mms19
|
APN |
19 |
41,935,352 (GRCm39) |
splice site |
probably null |
|
IGL03250:Mms19
|
APN |
19 |
41,942,903 (GRCm39) |
critical splice donor site |
probably null |
|
R0049:Mms19
|
UTSW |
19 |
41,943,607 (GRCm39) |
missense |
probably damaging |
0.99 |
R0049:Mms19
|
UTSW |
19 |
41,943,607 (GRCm39) |
missense |
probably damaging |
0.99 |
R0480:Mms19
|
UTSW |
19 |
41,943,285 (GRCm39) |
missense |
probably damaging |
0.98 |
R0498:Mms19
|
UTSW |
19 |
41,938,212 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0505:Mms19
|
UTSW |
19 |
41,942,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R0547:Mms19
|
UTSW |
19 |
41,951,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R1102:Mms19
|
UTSW |
19 |
41,939,284 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1183:Mms19
|
UTSW |
19 |
41,943,270 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1544:Mms19
|
UTSW |
19 |
41,944,260 (GRCm39) |
critical splice donor site |
probably null |
|
R1666:Mms19
|
UTSW |
19 |
41,940,995 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1668:Mms19
|
UTSW |
19 |
41,940,995 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1808:Mms19
|
UTSW |
19 |
41,954,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R1827:Mms19
|
UTSW |
19 |
41,942,116 (GRCm39) |
missense |
probably benign |
0.00 |
R3055:Mms19
|
UTSW |
19 |
41,938,527 (GRCm39) |
splice site |
probably benign |
|
R3551:Mms19
|
UTSW |
19 |
41,938,237 (GRCm39) |
missense |
probably benign |
0.04 |
R3716:Mms19
|
UTSW |
19 |
41,933,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R3877:Mms19
|
UTSW |
19 |
41,954,695 (GRCm39) |
nonsense |
probably null |
|
R4288:Mms19
|
UTSW |
19 |
41,933,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R4289:Mms19
|
UTSW |
19 |
41,933,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R4445:Mms19
|
UTSW |
19 |
41,952,372 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4446:Mms19
|
UTSW |
19 |
41,952,372 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4610:Mms19
|
UTSW |
19 |
41,933,935 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4734:Mms19
|
UTSW |
19 |
41,932,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R4748:Mms19
|
UTSW |
19 |
41,932,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R5315:Mms19
|
UTSW |
19 |
41,943,201 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5492:Mms19
|
UTSW |
19 |
41,944,270 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5621:Mms19
|
UTSW |
19 |
41,954,752 (GRCm39) |
missense |
probably benign |
0.27 |
R5643:Mms19
|
UTSW |
19 |
41,944,305 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5769:Mms19
|
UTSW |
19 |
41,952,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R6567:Mms19
|
UTSW |
19 |
41,938,206 (GRCm39) |
critical splice donor site |
probably null |
|
R6569:Mms19
|
UTSW |
19 |
41,952,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6588:Mms19
|
UTSW |
19 |
41,954,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R6645:Mms19
|
UTSW |
19 |
41,943,630 (GRCm39) |
missense |
probably benign |
0.04 |
R6696:Mms19
|
UTSW |
19 |
41,942,452 (GRCm39) |
missense |
probably benign |
0.41 |
R7050:Mms19
|
UTSW |
19 |
41,939,185 (GRCm39) |
splice site |
probably null |
|
R7426:Mms19
|
UTSW |
19 |
41,936,717 (GRCm39) |
missense |
probably benign |
|
R7564:Mms19
|
UTSW |
19 |
41,935,455 (GRCm39) |
missense |
probably benign |
0.09 |
R7655:Mms19
|
UTSW |
19 |
41,933,011 (GRCm39) |
missense |
probably damaging |
0.98 |
R7656:Mms19
|
UTSW |
19 |
41,933,011 (GRCm39) |
missense |
probably damaging |
0.98 |
R7687:Mms19
|
UTSW |
19 |
41,943,607 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7729:Mms19
|
UTSW |
19 |
41,940,904 (GRCm39) |
nonsense |
probably null |
|
R7942:Mms19
|
UTSW |
19 |
41,944,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R8681:Mms19
|
UTSW |
19 |
41,937,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R8849:Mms19
|
UTSW |
19 |
41,952,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R9334:Mms19
|
UTSW |
19 |
41,942,203 (GRCm39) |
missense |
probably benign |
0.02 |
R9527:Mms19
|
UTSW |
19 |
41,952,830 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9714:Mms19
|
UTSW |
19 |
41,935,410 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1177:Mms19
|
UTSW |
19 |
41,945,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GATCAGCTTTCACCTTGGGGAG -3'
(R):5'- GAACTTGCCTTGGATCCTATTTAC -3'
Sequencing Primer
(F):5'- GCGGCATGGAAACCTTGGAC -3'
(R):5'- CATAGAGAAGCCCTGTCTCGATTG -3'
|
Posted On |
2021-01-18 |