Incidental Mutation 'R1827:Mms19'
ID |
206968 |
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 |
039854-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R1827 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 41942116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 584
(A584V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000171561]
[ENSMUST00000167820]
[ENSMUST00000168484]
[ENSMUST00000167927]
[ENSMUST00000169775]
|
AlphaFold |
Q9D071 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026168
AA Change: A541V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026168 Gene: ENSMUSG00000025159 AA Change: A541V
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 benign
Transcript: ENSMUST00000163287
AA Change: A438V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128653 Gene: ENSMUSG00000025159 AA Change: A438V
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: A157V
|
SMART Domains |
Protein: ENSMUSP00000131219 Gene: ENSMUSG00000025159 AA Change: A157V
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: ENSMUST00000171561
AA Change: A584V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130900 Gene: ENSMUSG00000025159 AA Change: A584V
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: ENSMUST00000167820
AA Change: A57V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130399 Gene: ENSMUSG00000025159 AA Change: A57V
Domain | Start | End | E-Value | Type |
Pfam:MMS19_C
|
63 |
286 |
7.9e-56 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168737
|
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: 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 |
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
G |
C |
7: 131,043,004 (GRCm39) |
R355T |
probably damaging |
Het |
Ackr2 |
C |
T |
9: 121,738,581 (GRCm39) |
R319C |
probably benign |
Het |
Acot4 |
G |
A |
12: 84,088,712 (GRCm39) |
A187T |
probably damaging |
Het |
Adgrb2 |
A |
C |
4: 129,906,350 (GRCm39) |
Q926P |
probably damaging |
Het |
Adgrb3 |
T |
C |
1: 25,571,658 (GRCm39) |
T420A |
probably damaging |
Het |
Adra1b |
A |
T |
11: 43,726,476 (GRCm39) |
V147E |
probably damaging |
Het |
Bco1 |
A |
G |
8: 117,832,498 (GRCm39) |
Y98C |
probably damaging |
Het |
Car5a |
C |
T |
8: 122,650,547 (GRCm39) |
V166M |
probably benign |
Het |
Cdh5 |
T |
C |
8: 104,839,541 (GRCm39) |
L4P |
possibly damaging |
Het |
Clec12a |
A |
G |
6: 129,330,762 (GRCm39) |
T115A |
probably damaging |
Het |
Cmya5 |
G |
A |
13: 93,210,956 (GRCm39) |
T3279I |
possibly damaging |
Het |
Col4a4 |
C |
T |
1: 82,517,709 (GRCm39) |
G105D |
unknown |
Het |
Cyp2d34 |
A |
T |
15: 82,500,295 (GRCm39) |
H481Q |
probably benign |
Het |
Dhx15 |
A |
T |
5: 52,327,422 (GRCm39) |
C307* |
probably null |
Het |
Dnah9 |
A |
G |
11: 65,740,887 (GRCm39) |
Y4100H |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,508,009 (GRCm39) |
N1647S |
probably benign |
Het |
Duox1 |
T |
A |
2: 122,177,861 (GRCm39) |
Y1548* |
probably null |
Het |
Esyt1 |
T |
C |
10: 128,352,238 (GRCm39) |
E763G |
probably benign |
Het |
Fbh1 |
G |
T |
2: 11,768,699 (GRCm39) |
D332E |
possibly damaging |
Het |
Fndc8 |
G |
A |
11: 82,790,355 (GRCm39) |
V275M |
probably damaging |
Het |
Focad |
T |
G |
4: 88,147,620 (GRCm39) |
Y420D |
probably benign |
Het |
Gml |
A |
T |
15: 74,688,280 (GRCm39) |
H62Q |
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,832,129 (GRCm39) |
L1076F |
probably benign |
Het |
Gpr161 |
A |
G |
1: 165,134,136 (GRCm39) |
T133A |
possibly damaging |
Het |
Gpr83 |
G |
T |
9: 14,779,629 (GRCm39) |
C269F |
possibly damaging |
Het |
Gsg1l |
A |
T |
7: 125,509,369 (GRCm39) |
I256K |
possibly damaging |
Het |
Hao1 |
T |
A |
2: 134,372,584 (GRCm39) |
R141S |
probably benign |
Het |
Hnf1a |
G |
A |
5: 115,098,254 (GRCm39) |
A116V |
probably damaging |
Het |
Hrh4 |
A |
T |
18: 13,155,261 (GRCm39) |
T267S |
probably damaging |
Het |
Igfals |
A |
T |
17: 25,099,278 (GRCm39) |
N123I |
probably benign |
Het |
Iglon5 |
T |
A |
7: 43,128,545 (GRCm39) |
T91S |
probably benign |
Het |
Impg2 |
A |
T |
16: 56,087,583 (GRCm39) |
N1134I |
possibly damaging |
Het |
Incenp |
A |
G |
19: 9,850,093 (GRCm39) |
V860A |
possibly damaging |
Het |
Irf5 |
A |
T |
6: 29,536,672 (GRCm39) |
H461L |
possibly damaging |
Het |
Itpr2 |
A |
G |
6: 146,229,830 (GRCm39) |
L1255P |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,706,761 (GRCm39) |
S86P |
probably damaging |
Het |
Kcnma1 |
C |
A |
14: 23,380,997 (GRCm39) |
D903Y |
probably damaging |
Het |
Kcnn3 |
A |
T |
3: 89,428,301 (GRCm39) |
M176L |
possibly damaging |
Het |
Mccc1 |
A |
T |
3: 36,039,150 (GRCm39) |
I281N |
probably damaging |
Het |
Mon2 |
A |
T |
10: 122,882,216 (GRCm39) |
D184E |
probably damaging |
Het |
Mrpl1 |
T |
C |
5: 96,374,202 (GRCm39) |
V159A |
possibly damaging |
Het |
Mtrex |
C |
A |
13: 113,049,633 (GRCm39) |
|
probably null |
Het |
Myo18a |
C |
T |
11: 77,709,597 (GRCm39) |
T190I |
probably benign |
Het |
Myo7a |
A |
T |
7: 97,725,938 (GRCm39) |
M1038K |
probably damaging |
Het |
Myrfl |
T |
A |
10: 116,668,852 (GRCm39) |
I304F |
probably damaging |
Het |
Neo1 |
G |
A |
9: 58,824,314 (GRCm39) |
R705* |
probably null |
Het |
Nfat5 |
T |
C |
8: 108,093,966 (GRCm39) |
S736P |
probably benign |
Het |
Nlrp4c |
C |
T |
7: 6,068,765 (GRCm39) |
P222L |
probably damaging |
Het |
Nmt1 |
T |
A |
11: 102,955,664 (GRCm39) |
W481R |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 77,897,049 (GRCm39) |
I663L |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,061,864 (GRCm39) |
E681V |
probably damaging |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Or4c105 |
A |
T |
2: 88,648,402 (GRCm39) |
I296F |
probably benign |
Het |
Or55b3 |
A |
G |
7: 102,126,720 (GRCm39) |
L119P |
probably damaging |
Het |
Or56b1b |
A |
T |
7: 108,164,282 (GRCm39) |
V240D |
probably benign |
Het |
Pald1 |
ATGCTGCTGCTGCTGC |
ATGCTGCTGCTGC |
10: 61,191,701 (GRCm39) |
|
probably benign |
Het |
Ppm1e |
T |
C |
11: 87,122,521 (GRCm39) |
T479A |
probably damaging |
Het |
Ppp1r7 |
A |
G |
1: 93,288,518 (GRCm39) |
E298G |
probably benign |
Het |
Pramel29 |
G |
A |
4: 143,936,180 (GRCm39) |
P27S |
probably damaging |
Het |
Prkaca |
T |
C |
8: 84,717,616 (GRCm39) |
|
probably null |
Het |
Prss36 |
A |
G |
7: 127,532,664 (GRCm39) |
V718A |
probably damaging |
Het |
Pxk |
C |
T |
14: 8,151,507 (GRCm38) |
R441* |
probably null |
Het |
Rnf182 |
G |
A |
13: 43,822,010 (GRCm39) |
W187* |
probably null |
Het |
Rrp12 |
G |
C |
19: 41,868,920 (GRCm39) |
D519E |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,173,279 (GRCm39) |
L415P |
probably damaging |
Het |
Ryk |
T |
A |
9: 102,765,706 (GRCm39) |
D335E |
probably benign |
Het |
S100a11 |
A |
T |
3: 93,433,428 (GRCm39) |
I91F |
probably benign |
Het |
Scin |
T |
C |
12: 40,118,922 (GRCm39) |
R625G |
possibly damaging |
Het |
Simc1 |
T |
A |
13: 54,672,452 (GRCm39) |
C267S |
probably benign |
Het |
Slc28a1 |
T |
C |
7: 80,787,950 (GRCm39) |
V279A |
possibly damaging |
Het |
Slc30a8 |
T |
A |
15: 52,194,953 (GRCm39) |
|
probably null |
Het |
Slco6d1 |
A |
G |
1: 98,348,941 (GRCm39) |
D4G |
probably damaging |
Het |
Tmem127 |
G |
A |
2: 127,098,094 (GRCm39) |
|
probably null |
Het |
Trpm1 |
G |
A |
7: 63,884,755 (GRCm39) |
R812H |
probably damaging |
Het |
Tsga10 |
T |
A |
1: 37,874,661 (GRCm39) |
I75F |
probably damaging |
Het |
Tyms |
C |
T |
5: 30,267,014 (GRCm39) |
|
probably null |
Het |
Ubr4 |
A |
G |
4: 139,153,008 (GRCm39) |
|
probably null |
Het |
Unc45a |
A |
G |
7: 79,981,488 (GRCm39) |
V438A |
possibly damaging |
Het |
Usf2 |
T |
C |
7: 30,654,765 (GRCm39) |
D110G |
probably damaging |
Het |
Vit |
T |
C |
17: 78,853,875 (GRCm39) |
|
probably null |
Het |
Vmn2r104 |
A |
T |
17: 20,262,497 (GRCm39) |
M211K |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,199,938 (GRCm39) |
H505R |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,450,821 (GRCm39) |
A236T |
probably damaging |
Het |
Xpo1 |
T |
C |
11: 23,235,155 (GRCm39) |
M608T |
probably benign |
Het |
Zfp112 |
T |
C |
7: 23,824,385 (GRCm39) |
F116L |
probably damaging |
Het |
Zfp84 |
A |
G |
7: 29,476,768 (GRCm39) |
T487A |
possibly damaging |
Het |
Zfpl1 |
A |
C |
19: 6,131,901 (GRCm39) |
L241R |
probably benign |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGTACATCCGCTTACTGTATAGC -3'
(R):5'- AACTGTTCCAACCCTTGCCAG -3'
Sequencing Primer
(F):5'- TACCATGTCACTGCTACG -3'
(R):5'- TTCTGAGAGGGCCTTCACAC -3'
|
Posted On |
2014-06-23 |