Incidental Mutation 'R1668:Mms19'
| ID |
187419 |
| 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 |
039704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R1668 (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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra2c |
T |
C |
5: 35,437,641 (GRCm39) |
S138P |
probably damaging |
Het |
| Appl1 |
A |
C |
14: 26,645,811 (GRCm39) |
S666R |
probably damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,864,584 (GRCm39) |
S879G |
possibly damaging |
Het |
| Calcoco2 |
T |
C |
11: 95,993,563 (GRCm39) |
M140V |
probably benign |
Het |
| Cap2 |
C |
A |
13: 46,768,799 (GRCm39) |
H147N |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,767,814 (GRCm39) |
H2437L |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,682,392 (GRCm39) |
I1684T |
unknown |
Het |
| Comp |
A |
T |
8: 70,831,607 (GRCm39) |
|
probably null |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,499 (GRCm39) |
M198L |
probably benign |
Het |
| Dnaaf2 |
A |
G |
12: 69,243,465 (GRCm39) |
V532A |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,842,626 (GRCm39) |
Q1358L |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,562,404 (GRCm39) |
S832T |
probably damaging |
Het |
| Dus3l |
T |
G |
17: 57,073,912 (GRCm39) |
F162C |
possibly damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,054,962 (GRCm39) |
L42P |
probably damaging |
Het |
| Ercc5 |
T |
A |
1: 44,206,193 (GRCm39) |
S369T |
probably benign |
Het |
| Fbxl2 |
C |
T |
9: 113,818,214 (GRCm39) |
V211M |
probably benign |
Het |
| Fermt3 |
A |
G |
19: 6,996,060 (GRCm39) |
V45A |
probably damaging |
Het |
| Frs3 |
C |
A |
17: 48,014,147 (GRCm39) |
P280Q |
possibly damaging |
Het |
| Fxn |
A |
G |
19: 24,239,377 (GRCm39) |
Y172H |
probably damaging |
Het |
| Gabpa |
T |
C |
16: 84,643,069 (GRCm39) |
V122A |
probably damaging |
Het |
| Gsta4 |
A |
G |
9: 78,111,570 (GRCm39) |
T66A |
probably benign |
Het |
| Hsdl2 |
C |
T |
4: 59,612,697 (GRCm39) |
T296M |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,667,133 (GRCm39) |
N438S |
probably damaging |
Het |
| Krt24 |
A |
G |
11: 99,175,444 (GRCm39) |
I197T |
probably benign |
Het |
| Lct |
T |
C |
1: 128,215,459 (GRCm39) |
|
probably null |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mc4r |
A |
G |
18: 66,992,480 (GRCm39) |
L211P |
probably damaging |
Het |
| Mfsd4b5 |
T |
C |
10: 39,849,687 (GRCm39) |
T111A |
probably damaging |
Het |
| Mgat5b |
T |
A |
11: 116,874,474 (GRCm39) |
N635K |
probably benign |
Het |
| Morc2a |
G |
A |
11: 3,625,885 (GRCm39) |
V162M |
probably benign |
Het |
| Mroh5 |
T |
C |
15: 73,659,754 (GRCm39) |
N359S |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,852,161 (GRCm39) |
I843V |
possibly damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,467,961 (GRCm39) |
D436G |
probably damaging |
Het |
| Nbr1 |
A |
G |
11: 101,460,592 (GRCm39) |
D502G |
probably benign |
Het |
| Ngfr |
C |
T |
11: 95,478,371 (GRCm39) |
G5D |
probably damaging |
Het |
| Nlrc4 |
G |
A |
17: 74,752,901 (GRCm39) |
T494M |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,377,563 (GRCm39) |
H171L |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,398,880 (GRCm39) |
L795P |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,005,787 (GRCm39) |
T616A |
possibly damaging |
Het |
| Or10d5 |
C |
A |
9: 39,861,465 (GRCm39) |
V201L |
possibly damaging |
Het |
| Or1j18 |
T |
A |
2: 36,625,204 (GRCm39) |
Y290* |
probably null |
Het |
| Or5ak25 |
T |
A |
2: 85,269,220 (GRCm39) |
Y94F |
probably benign |
Het |
| Or5b113 |
A |
C |
19: 13,342,234 (GRCm39) |
M81L |
probably benign |
Het |
| Osbpl5 |
T |
C |
7: 143,262,776 (GRCm39) |
H192R |
probably damaging |
Het |
| Parp2 |
G |
A |
14: 51,058,313 (GRCm39) |
R486Q |
probably benign |
Het |
| Pcgf6 |
G |
A |
19: 47,028,544 (GRCm39) |
A286V |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,258,990 (GRCm39) |
T1133A |
probably damaging |
Het |
| Plekha2 |
T |
C |
8: 25,562,070 (GRCm39) |
N48S |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,445,235 (GRCm39) |
S461A |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,329,099 (GRCm39) |
L536P |
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 |
| Rab23 |
A |
T |
1: 33,773,935 (GRCm39) |
K132* |
probably null |
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 |
| Rpn2 |
C |
T |
2: 157,136,075 (GRCm39) |
T161M |
possibly damaging |
Het |
| Rufy4 |
G |
A |
1: 74,186,837 (GRCm39) |
V542I |
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,008,481 (GRCm39) |
V128A |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,624,434 (GRCm39) |
I365V |
possibly damaging |
Het |
| Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,667,943 (GRCm39) |
V718A |
probably benign |
Het |
| Susd4 |
A |
G |
1: 182,686,128 (GRCm39) |
H226R |
probably benign |
Het |
| Tmem151b |
T |
C |
17: 45,856,831 (GRCm39) |
Y203C |
probably damaging |
Het |
| Tmppe |
T |
C |
9: 114,233,968 (GRCm39) |
V89A |
possibly damaging |
Het |
| Trappc6b |
A |
T |
12: 59,094,907 (GRCm39) |
|
probably null |
Het |
| Ube4b |
A |
T |
4: 149,445,751 (GRCm39) |
M433K |
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 |
| Vmn1r43 |
T |
C |
6: 89,846,683 (GRCm39) |
I268V |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,764 (GRCm39) |
R79S |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,366,913 (GRCm39) |
K436* |
probably null |
Het |
| Wdr72 |
A |
G |
9: 74,117,444 (GRCm39) |
S719G |
probably damaging |
Het |
| Zfp526 |
T |
C |
7: 24,924,967 (GRCm39) |
F409L |
probably benign |
Het |
| Zfp804b |
A |
C |
5: 6,821,323 (GRCm39) |
L580R |
possibly damaging |
Het |
| Zfp977 |
T |
C |
7: 42,230,070 (GRCm39) |
T152A |
probably benign |
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 |
|
|
R1666: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'- TGTCCAACGCTAGTAGAAAGCCAAC -3'
(R):5'- GGATTTCAGTCCAACTCTGTCAGTCTC -3'
Sequencing Primer
(F):5'- GCCAACCTACTACAGGATGG -3'
(R):5'- cagatgtggagataggtaggaag -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation