Incidental Mutation 'IGL03233:Mms19'
ID |
413993 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mms19
|
Ensembl Gene |
ENSMUSG00000025159 |
Gene Name |
MMS19 cytosolic iron-sulfur assembly component |
Synonyms |
2610042O15Rik, Mms19l, C86341, Mms19 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
IGL03233
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 41935352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026154]
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000171561]
[ENSMUST00000167927]
[ENSMUST00000167820]
[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 null
Transcript: ENSMUST00000026168
|
SMART Domains |
Protein: ENSMUSP00000026168 Gene: ENSMUSG00000025159
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 null
Transcript: ENSMUST00000163287
|
SMART Domains |
Protein: ENSMUSP00000128653 Gene: ENSMUSG00000025159
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 |
noncoding transcript
Transcript: ENSMUST00000165043
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166090
|
SMART Domains |
Protein: ENSMUSP00000131219 Gene: ENSMUSG00000025159
Domain | Start | End | E-Value | Type |
Pfam:MMS19_C
|
102 |
494 |
2.2e-97 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170209
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171561
|
SMART Domains |
Protein: ENSMUSP00000130900 Gene: ENSMUSG00000025159
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 |
noncoding transcript
Transcript: ENSMUST00000169779
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166517
|
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 |
noncoding transcript
Transcript: ENSMUST00000223768
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167820
|
SMART Domains |
Protein: ENSMUSP00000130399 Gene: ENSMUSG00000025159
Domain | Start | End | E-Value | Type |
Pfam:MMS19_C
|
63 |
286 |
7.9e-56 |
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 |
noncoding transcript
Transcript: ENSMUST00000223624
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223802
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225968
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
T |
C |
4: 86,260,357 (GRCm39) |
F856S |
probably damaging |
Het |
Ak7 |
A |
G |
12: 105,727,739 (GRCm39) |
D457G |
probably damaging |
Het |
Ankrd26 |
G |
T |
6: 118,512,107 (GRCm39) |
|
probably null |
Het |
Ano5 |
C |
A |
7: 51,220,116 (GRCm39) |
P405T |
probably damaging |
Het |
Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
Atg4c |
A |
T |
4: 99,117,740 (GRCm39) |
Y343F |
probably benign |
Het |
Cab39 |
T |
A |
1: 85,770,044 (GRCm39) |
M175K |
probably benign |
Het |
Cadps2 |
T |
C |
6: 23,263,600 (GRCm39) |
E1257G |
probably benign |
Het |
Ces1d |
A |
G |
8: 93,921,707 (GRCm39) |
Y19H |
probably benign |
Het |
Cst6 |
T |
C |
19: 5,399,289 (GRCm39) |
D25G |
probably damaging |
Het |
Cyp4a30b |
A |
T |
4: 115,316,167 (GRCm39) |
T298S |
probably benign |
Het |
Dgkk |
T |
C |
X: 6,770,077 (GRCm39) |
L352P |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,127,611 (GRCm39) |
Y433N |
probably damaging |
Het |
Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
Esco1 |
A |
G |
18: 10,574,877 (GRCm39) |
W208R |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,235,449 (GRCm39) |
D676G |
probably benign |
Het |
Foxp3 |
T |
C |
X: 7,453,662 (GRCm39) |
|
probably benign |
Het |
Gpr108 |
T |
A |
17: 57,552,042 (GRCm39) |
I123F |
probably benign |
Het |
Gsdmc4 |
A |
T |
15: 63,774,709 (GRCm39) |
V24E |
probably damaging |
Het |
Jam3 |
C |
A |
9: 27,013,217 (GRCm39) |
V118F |
probably damaging |
Het |
Kif23 |
T |
A |
9: 61,833,735 (GRCm39) |
I489F |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,614,095 (GRCm39) |
V1288D |
probably damaging |
Het |
Mark2 |
G |
T |
19: 7,262,091 (GRCm39) |
H308N |
possibly damaging |
Het |
Neb |
A |
T |
2: 52,198,313 (GRCm39) |
I477N |
possibly damaging |
Het |
Npm1 |
G |
T |
11: 33,106,717 (GRCm39) |
Q204K |
probably benign |
Het |
Nsun5 |
G |
A |
5: 135,404,299 (GRCm39) |
V369M |
probably damaging |
Het |
Or7a39 |
C |
A |
10: 78,715,406 (GRCm39) |
Y133* |
probably null |
Het |
Pcdhb13 |
T |
A |
18: 37,577,318 (GRCm39) |
N565K |
probably damaging |
Het |
Pla2r1 |
A |
G |
2: 60,258,924 (GRCm39) |
F1155L |
possibly damaging |
Het |
Pus10 |
T |
A |
11: 23,662,241 (GRCm39) |
W304R |
probably damaging |
Het |
Rab32 |
G |
A |
10: 10,422,057 (GRCm39) |
Q221* |
probably null |
Het |
Rlf |
A |
G |
4: 121,039,797 (GRCm39) |
|
probably benign |
Het |
Robo1 |
A |
T |
16: 72,767,081 (GRCm39) |
I418F |
probably damaging |
Het |
Slc44a2 |
T |
C |
9: 21,259,918 (GRCm39) |
I642T |
possibly damaging |
Het |
Ston2 |
T |
A |
12: 91,614,627 (GRCm39) |
T594S |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,229,726 (GRCm39) |
T2802A |
unknown |
Het |
Tshz3 |
T |
A |
7: 36,469,504 (GRCm39) |
Y498N |
probably damaging |
Het |
Zfp280b |
T |
A |
10: 75,875,603 (GRCm39) |
I494N |
probably damaging |
Het |
Zfp281 |
A |
G |
1: 136,554,567 (GRCm39) |
Q515R |
possibly 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 |
|
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 |
R8464:Mms19
|
UTSW |
19 |
41,935,522 (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 |
|
|
Posted On |
2016-08-02 |