Incidental Mutation 'IGL02678:Mms19'
| ID |
303239 |
| 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 # |
IGL02678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41942915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 354
(S354P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000167820]
[ENSMUST00000171561]
[ENSMUST00000168484]
[ENSMUST00000169775]
[ENSMUST00000167927]
|
| AlphaFold |
Q9D071 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026168
AA Change: S457P
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: S457P
| 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 |
possibly damaging
Transcript: ENSMUST00000163287
AA Change: S354P
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: S354P
| 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 |
unknown
Transcript: ENSMUST00000166090
AA Change: S73P
|
| SMART Domains |
Protein: ENSMUSP00000131219
Gene: ENSMUSG00000025159
AA Change: S73P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_C
|
102 |
494 |
2.2e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166517
|
| 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: ENSMUST00000171561
AA Change: S500P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: S500P
| 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: ENSMUST00000168737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168484
|
| SMART Domains |
Protein: ENSMUSP00000126881
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: ENSMUST00000167927
|
| SMART Domains |
Protein: ENSMUSP00000132483
Gene: ENSMUSG00000025159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_N
|
51 |
313 |
4.6e-99 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,035,867 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,410,177 (GRCm39) |
E272G |
probably damaging |
Het |
| Alcam |
G |
A |
16: 52,094,401 (GRCm39) |
P416S |
probably damaging |
Het |
| B3galt1 |
A |
G |
2: 67,949,254 (GRCm39) |
H323R |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,163,697 (GRCm39) |
S665N |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,956,898 (GRCm39) |
S3631P |
probably damaging |
Het |
| Capn3 |
A |
C |
2: 120,333,479 (GRCm39) |
N621T |
probably damaging |
Het |
| Cblif |
T |
C |
19: 11,725,839 (GRCm39) |
M43T |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,437,151 (GRCm39) |
H480Y |
probably damaging |
Het |
| Ccr2 |
T |
A |
9: 123,906,783 (GRCm39) |
D354E |
probably benign |
Het |
| Cdc42bpb |
T |
G |
12: 111,292,530 (GRCm39) |
D335A |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,830,646 (GRCm39) |
Y360C |
probably damaging |
Het |
| Chrd |
G |
T |
16: 20,552,770 (GRCm39) |
R89L |
probably damaging |
Het |
| Cops2 |
T |
C |
2: 125,686,831 (GRCm39) |
R91G |
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,266,106 (GRCm39) |
T88A |
probably benign |
Het |
| Dnai1 |
A |
C |
4: 41,602,917 (GRCm39) |
E140A |
probably benign |
Het |
| Eif1ad17 |
C |
A |
12: 87,978,946 (GRCm39) |
P110Q |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,751,814 (GRCm39) |
D2063G |
probably damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,623,584 (GRCm39) |
|
probably benign |
Het |
| Gng7 |
C |
A |
10: 80,787,518 (GRCm39) |
L48F |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,057,246 (GRCm39) |
C2725F |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,583,373 (GRCm39) |
K159R |
probably damaging |
Het |
| Insr |
G |
T |
8: 3,223,570 (GRCm39) |
N854K |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,971,610 (GRCm39) |
|
probably null |
Het |
| Lcat |
A |
G |
8: 106,668,572 (GRCm39) |
|
probably null |
Het |
| Mb21d2 |
T |
C |
16: 28,646,801 (GRCm39) |
E391G |
probably benign |
Het |
| Mx2 |
G |
A |
16: 97,357,320 (GRCm39) |
|
probably null |
Het |
| Mycl |
G |
A |
4: 122,893,776 (GRCm39) |
R192Q |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 12,786,836 (GRCm39) |
V78A |
probably benign |
Het |
| Nipbl |
G |
T |
15: 8,380,594 (GRCm39) |
P733T |
possibly damaging |
Het |
| Nploc4 |
A |
G |
11: 120,280,198 (GRCm39) |
I450T |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,757 (GRCm39) |
E389V |
probably benign |
Het |
| Or8g30 |
C |
T |
9: 39,230,217 (GRCm39) |
S231N |
probably benign |
Het |
| Oxgr1 |
A |
G |
14: 120,259,580 (GRCm39) |
L209P |
probably damaging |
Het |
| Pak1 |
A |
C |
7: 97,543,209 (GRCm39) |
T291P |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,240,045 (GRCm39) |
I338K |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,195 (GRCm39) |
D364G |
probably damaging |
Het |
| Pomk |
G |
A |
8: 26,473,135 (GRCm39) |
P273S |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,453,418 (GRCm39) |
I38F |
probably damaging |
Het |
| Rbks |
G |
T |
5: 31,830,757 (GRCm39) |
T42N |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,832,107 (GRCm39) |
V20A |
probably damaging |
Het |
| Six4 |
T |
C |
12: 73,159,408 (GRCm39) |
Y176C |
probably damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,310,081 (GRCm39) |
M9L |
possibly damaging |
Het |
| Slc16a11 |
T |
C |
11: 70,106,242 (GRCm39) |
L112S |
probably damaging |
Het |
| Slc25a28 |
A |
T |
19: 43,655,586 (GRCm39) |
|
probably benign |
Het |
| Slc30a3 |
G |
A |
5: 31,245,676 (GRCm39) |
R237* |
probably null |
Het |
| Slco1a8 |
A |
T |
6: 141,954,444 (GRCm39) |
Y10N |
probably damaging |
Het |
| Smc1b |
G |
A |
15: 84,949,201 (GRCm39) |
R1237* |
probably null |
Het |
| Smtn |
T |
C |
11: 3,476,353 (GRCm39) |
E585G |
possibly damaging |
Het |
| Spatc1 |
A |
T |
15: 76,176,572 (GRCm39) |
D441V |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,426 (GRCm39) |
N2481D |
probably damaging |
Het |
| Tnks2 |
A |
T |
19: 36,823,143 (GRCm39) |
I137F |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,849,649 (GRCm39) |
K1472E |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,708,660 (GRCm39) |
E1846* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,221,640 (GRCm39) |
D532G |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,349,067 (GRCm39) |
H168L |
probably damaging |
Het |
| Zfp977 |
G |
A |
7: 42,232,419 (GRCm39) |
T14I |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation