Incidental Mutation 'R3716:Mms19'
ID |
259941 |
Institutional Source |
Beutler Lab
|
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 # |
R3716 (G1)
|
Quality Score |
144 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41933174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 997
(V997A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026154]
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000171561]
[ENSMUST00000167820]
[ENSMUST00000169775]
[ENSMUST00000167927]
[ENSMUST00000224562]
[ENSMUST00000225968]
[ENSMUST00000223802]
|
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: V954A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026168 Gene: ENSMUSG00000025159 AA Change: V954A
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: V851A
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128653 Gene: ENSMUSG00000025159 AA Change: V851A
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 damaging
Transcript: ENSMUST00000171561
AA Change: V997A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130900 Gene: ENSMUSG00000025159 AA Change: V997A
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: ENSMUST00000170209
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166517
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223624
|
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 |
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: ENSMUST00000223785
|
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: ENSMUST00000224562
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225968
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223802
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225433
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
A |
T |
11: 48,910,363 (GRCm39) |
L690H |
probably damaging |
Het |
Abtb3 |
C |
T |
10: 85,397,392 (GRCm39) |
H442Y |
probably damaging |
Het |
Acaa1b |
A |
G |
9: 118,985,709 (GRCm39) |
V72A |
probably benign |
Het |
Actl7a |
T |
C |
4: 56,744,295 (GRCm39) |
L274P |
possibly damaging |
Het |
Ankrd50 |
T |
C |
3: 38,508,299 (GRCm39) |
E433G |
probably damaging |
Het |
Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
Canx |
A |
G |
11: 50,195,301 (GRCm39) |
S256P |
probably benign |
Het |
Caps2 |
A |
G |
10: 112,036,637 (GRCm39) |
H399R |
probably benign |
Het |
Col6a6 |
A |
C |
9: 105,659,373 (GRCm39) |
L524R |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dglucy |
A |
T |
12: 100,816,375 (GRCm39) |
N339I |
probably damaging |
Het |
Dhrs4 |
G |
T |
14: 55,716,362 (GRCm39) |
M1I |
probably null |
Het |
Disp1 |
A |
T |
1: 182,869,315 (GRCm39) |
L1035Q |
probably damaging |
Het |
Ephb1 |
T |
C |
9: 102,071,999 (GRCm39) |
E260G |
probably damaging |
Het |
Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
Firrm |
T |
C |
1: 163,784,457 (GRCm39) |
I779M |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,479,781 (GRCm39) |
S1971G |
probably damaging |
Het |
Gria2 |
A |
G |
3: 80,648,311 (GRCm39) |
Y142H |
possibly damaging |
Het |
Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
Il21r |
A |
G |
7: 125,231,441 (GRCm39) |
K290E |
probably damaging |
Het |
Inpp5f |
C |
G |
7: 128,292,394 (GRCm39) |
L17V |
probably damaging |
Het |
Kcnh3 |
A |
G |
15: 99,130,646 (GRCm39) |
N421S |
possibly damaging |
Het |
Krt33a |
A |
C |
11: 99,904,991 (GRCm39) |
C172G |
probably benign |
Het |
Lrp6 |
A |
T |
6: 134,484,410 (GRCm39) |
H404Q |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,367,295 (GRCm39) |
T924A |
probably benign |
Het |
Mepe |
C |
A |
5: 104,485,294 (GRCm39) |
H145N |
probably benign |
Het |
Mesp2 |
T |
G |
7: 79,462,542 (GRCm39) |
L366R |
possibly damaging |
Het |
Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
Het |
Myo15b |
G |
T |
11: 115,754,239 (GRCm39) |
C913F |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
Nelfcd |
T |
C |
2: 174,264,798 (GRCm39) |
V179A |
possibly damaging |
Het |
Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
Or8i2 |
A |
T |
2: 86,852,707 (GRCm39) |
Y60* |
probably null |
Het |
Orc1 |
C |
T |
4: 108,471,656 (GRCm39) |
A836V |
probably damaging |
Het |
Pcdhb6 |
G |
T |
18: 37,469,259 (GRCm39) |
V43L |
probably benign |
Het |
Prkcd |
G |
T |
14: 30,321,669 (GRCm39) |
D393E |
probably benign |
Het |
Rb1cc1 |
G |
C |
1: 6,340,914 (GRCm39) |
|
probably null |
Het |
Rp1 |
T |
A |
1: 4,419,988 (GRCm39) |
T375S |
probably benign |
Het |
Slc9c1 |
A |
T |
16: 45,400,582 (GRCm39) |
M731L |
probably benign |
Het |
Sox21 |
A |
T |
14: 118,472,842 (GRCm39) |
M69K |
probably benign |
Het |
Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
Taok1 |
A |
G |
11: 77,432,636 (GRCm39) |
F726L |
probably benign |
Het |
Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
Usp32 |
A |
G |
11: 84,933,389 (GRCm39) |
Y40H |
probably damaging |
Het |
Usp37 |
A |
T |
1: 74,532,145 (GRCm39) |
S83T |
possibly damaging |
Het |
Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTCCCAAGTAGGAACCTGTAG -3'
(R):5'- ATTGGTCATCCTACATTCAAACACC -3'
Sequencing Primer
(F):5'- TCCCAAGTAGGAACCTGTAGACATG -3'
(R):5'- TTCAGCAAGACCCAGGTTTG -3'
|
Posted On |
2015-01-23 |