Incidental Mutation 'R1666:Mms19'
| ID |
187248 |
| 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 |
039702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R1666 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41940995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 443
(M443K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000171561]
[ENSMUST00000168484]
[ENSMUST00000167927]
[ENSMUST00000169775]
[ENSMUST00000167820]
|
| AlphaFold |
Q9D071 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026168
AA Change: M546K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: M546K
| 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: M443K
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: M443K
| 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 |
unknown
Transcript: ENSMUST00000166090
AA Change: M162K
|
| SMART Domains |
Protein: ENSMUSP00000131219
Gene: ENSMUSG00000025159
AA Change: M162K
| 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: M589K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: M589K
| 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: ENSMUST00000171755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168737
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
G |
A |
15: 101,035,458 (GRCm39) |
R328H |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,652,927 (GRCm39) |
S466P |
probably damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,864,584 (GRCm39) |
S879G |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,597,006 (GRCm39) |
D556G |
probably damaging |
Het |
| Atp2a3 |
T |
A |
11: 72,869,633 (GRCm39) |
|
probably null |
Het |
| Brinp2 |
C |
A |
1: 158,074,128 (GRCm39) |
E664D |
probably damaging |
Het |
| Cap2 |
C |
A |
13: 46,768,799 (GRCm39) |
H147N |
probably damaging |
Het |
| Cd209f |
G |
A |
8: 4,154,862 (GRCm39) |
Q79* |
probably null |
Het |
| Chrna7 |
T |
C |
7: 62,861,890 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Clec1a |
T |
C |
6: 129,413,967 (GRCm39) |
D40G |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,184 (GRCm39) |
E148G |
unknown |
Het |
| Comp |
A |
T |
8: 70,831,607 (GRCm39) |
|
probably null |
Het |
| Cpz |
A |
G |
5: 35,665,460 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,521,646 (GRCm39) |
N13K |
probably damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,499 (GRCm39) |
M198L |
probably benign |
Het |
| Deup1 |
A |
T |
9: 15,486,487 (GRCm39) |
Y398N |
possibly damaging |
Het |
| Elapor1 |
A |
G |
3: 108,377,313 (GRCm39) |
S434P |
probably benign |
Het |
| Epb41l4a |
A |
G |
18: 34,054,962 (GRCm39) |
L42P |
probably damaging |
Het |
| Exo1 |
T |
C |
1: 175,736,052 (GRCm39) |
I812T |
possibly damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,692,060 (GRCm39) |
|
probably null |
Het |
| Fxn |
A |
G |
19: 24,239,377 (GRCm39) |
Y172H |
probably damaging |
Het |
| Gabra6 |
A |
G |
11: 42,208,461 (GRCm39) |
S124P |
probably damaging |
Het |
| Gje1 |
C |
A |
10: 14,592,551 (GRCm39) |
W77L |
possibly damaging |
Het |
| Glra1 |
A |
G |
11: 55,465,225 (GRCm39) |
S23P |
probably damaging |
Het |
| Gm6811 |
T |
C |
17: 21,314,529 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
T |
A |
18: 10,501,080 (GRCm39) |
|
probably null |
Het |
| Greb1l |
T |
C |
18: 10,529,708 (GRCm39) |
|
probably null |
Het |
| Grm6 |
A |
T |
11: 50,750,711 (GRCm39) |
I625F |
probably damaging |
Het |
| Guca1a |
A |
G |
17: 47,711,167 (GRCm39) |
F60L |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,800,607 (GRCm39) |
E2070D |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,256,329 (GRCm39) |
T910I |
probably benign |
Het |
| Kctd10 |
A |
G |
5: 114,507,051 (GRCm39) |
V142A |
probably benign |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,443,588 (GRCm39) |
D757V |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,658,242 (GRCm39) |
|
probably null |
Het |
| Lrrc30 |
A |
T |
17: 67,939,200 (GRCm39) |
C127S |
probably benign |
Het |
| Mc4r |
A |
G |
18: 66,992,480 (GRCm39) |
L211P |
probably damaging |
Het |
| Mgat5b |
T |
A |
11: 116,874,474 (GRCm39) |
N635K |
probably benign |
Het |
| Mroh5 |
T |
C |
15: 73,659,754 (GRCm39) |
N359S |
probably benign |
Het |
| Nlrc4 |
G |
A |
17: 74,752,901 (GRCm39) |
T494M |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,401 (GRCm39) |
D35G |
possibly damaging |
Het |
| Or5g25 |
A |
T |
2: 85,478,157 (GRCm39) |
C169* |
probably null |
Het |
| Osbpl5 |
T |
C |
7: 143,262,776 (GRCm39) |
H192R |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,861,620 (GRCm39) |
K984N |
possibly damaging |
Het |
| Pdgfra |
G |
A |
5: 75,349,681 (GRCm39) |
G892D |
possibly damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,612,634 (GRCm39) |
|
probably benign |
Het |
| Ppcdc |
T |
A |
9: 57,321,998 (GRCm39) |
M181L |
possibly damaging |
Het |
| Pramel7 |
G |
A |
2: 87,322,747 (GRCm39) |
P6S |
probably damaging |
Het |
| Prkcz |
G |
T |
4: 155,374,208 (GRCm39) |
F69L |
probably damaging |
Het |
| Prkd1 |
G |
A |
12: 50,441,709 (GRCm39) |
H277Y |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,977,021 (GRCm39) |
Y44C |
probably damaging |
Het |
| Rbck1 |
T |
A |
2: 152,158,819 (GRCm39) |
S488C |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,001,654 (GRCm39) |
Y878C |
probably damaging |
Het |
| Rbm6 |
G |
A |
9: 107,669,055 (GRCm39) |
T619I |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,420,086 (GRCm39) |
I342T |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,075 (GRCm39) |
T161M |
possibly damaging |
Het |
| Rufy4 |
G |
A |
1: 74,186,837 (GRCm39) |
V542I |
probably benign |
Het |
| Sema5b |
C |
T |
16: 35,478,852 (GRCm39) |
P559S |
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,008,481 (GRCm39) |
V128A |
probably benign |
Het |
| Slc35f3 |
T |
A |
8: 127,115,960 (GRCm39) |
S296T |
probably damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,927,775 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
A |
G |
19: 26,624,434 (GRCm39) |
I365V |
possibly damaging |
Het |
| Spdya |
T |
A |
17: 71,885,235 (GRCm39) |
C230S |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,856,089 (GRCm39) |
A67V |
probably benign |
Het |
| Tapbpl |
A |
G |
6: 125,207,164 (GRCm39) |
V175A |
probably benign |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,099 (GRCm39) |
I97V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,642,095 (GRCm39) |
T13373A |
probably damaging |
Het |
| Tubb5 |
A |
T |
17: 36,147,530 (GRCm39) |
N52K |
probably benign |
Het |
| Tyr |
T |
A |
7: 87,142,149 (GRCm39) |
Y137F |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,565 (GRCm39) |
I217N |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,540 (GRCm39) |
D292E |
possibly damaging |
Het |
| Vmn1r22 |
A |
G |
6: 57,877,704 (GRCm39) |
M91T |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,200,215 (GRCm39) |
|
probably null |
Het |
| Zfp566 |
A |
T |
7: 29,777,901 (GRCm39) |
H93Q |
probably benign |
Het |
| Zfp740 |
A |
G |
15: 102,116,753 (GRCm39) |
D56G |
probably damaging |
Het |
| Zfp804b |
A |
C |
5: 6,821,323 (GRCm39) |
L580R |
possibly damaging |
Het |
| Zmiz2 |
T |
G |
11: 6,346,836 (GRCm39) |
S148R |
probably benign |
Het |
| Zmym6 |
T |
A |
4: 127,016,652 (GRCm39) |
I719N |
probably damaging |
Het |
| Zyx |
T |
A |
6: 42,332,966 (GRCm39) |
V372E |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACCTGGCATTGAAGCCTGC -3'
(R):5'- GGATTTCAGTCCAACTCTGTCAGTCTC -3'
Sequencing Primer
(F):5'- GCATTGAAGCCTGCACAGC -3'
(R):5'- cagatgtggagataggtaggaag -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation