Incidental Mutation 'R7729:Mms19'
ID |
595743 |
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 |
045785-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R7729 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 41940904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 619
(Y619*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000167820]
[ENSMUST00000171561]
[ENSMUST00000167927]
[ENSMUST00000168484]
[ENSMUST00000169775]
|
AlphaFold |
Q9D071 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026168
AA Change: Y576*
|
SMART Domains |
Protein: ENSMUSP00000026168 Gene: ENSMUSG00000025159 AA Change: Y576*
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 null
Transcript: ENSMUST00000163287
AA Change: Y473*
|
SMART Domains |
Protein: ENSMUSP00000128653 Gene: ENSMUSG00000025159 AA Change: Y473*
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 |
probably null
Transcript: ENSMUST00000166090
AA Change: Y192*
|
SMART Domains |
Protein: ENSMUSP00000131219 Gene: ENSMUSG00000025159 AA Change: Y192*
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 null
Transcript: ENSMUST00000171561
AA Change: Y619*
|
SMART Domains |
Protein: ENSMUSP00000130900 Gene: ENSMUSG00000025159 AA Change: Y619*
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: 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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
T |
G |
2: 127,028,710 (GRCm39) |
D163A |
possibly damaging |
Het |
Abce1 |
A |
T |
8: 80,414,537 (GRCm39) |
I454N |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,262,339 (GRCm39) |
I1980M |
probably damaging |
Het |
Adgrb2 |
C |
T |
4: 129,885,917 (GRCm39) |
T19M |
probably benign |
Het |
Agmo |
T |
A |
12: 37,464,974 (GRCm39) |
S417T |
probably benign |
Het |
Akap8l |
T |
C |
17: 32,552,068 (GRCm39) |
E403G |
probably damaging |
Het |
Art5 |
C |
T |
7: 101,747,711 (GRCm39) |
A23T |
possibly damaging |
Het |
Atg9a |
T |
C |
1: 75,161,204 (GRCm39) |
T681A |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,832,256 (GRCm39) |
Q37R |
probably damaging |
Het |
Atp2a2 |
T |
C |
5: 122,629,829 (GRCm39) |
E80G |
probably benign |
Het |
AW551984 |
G |
A |
9: 39,511,071 (GRCm39) |
P172L |
possibly damaging |
Het |
Bace1 |
C |
T |
9: 45,769,743 (GRCm39) |
R296C |
probably damaging |
Het |
Ccser1 |
T |
A |
6: 61,288,840 (GRCm39) |
H334Q |
probably benign |
Het |
Chtf18 |
C |
T |
17: 25,942,491 (GRCm39) |
R449H |
probably damaging |
Het |
Cit |
A |
G |
5: 116,122,881 (GRCm39) |
H1384R |
possibly damaging |
Het |
Cltc |
A |
G |
11: 86,612,474 (GRCm39) |
I524T |
probably benign |
Het |
Dctn1 |
T |
A |
6: 83,160,042 (GRCm39) |
I94N |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,354,472 (GRCm39) |
D3078V |
probably damaging |
Het |
Dock7 |
G |
A |
4: 98,943,683 (GRCm39) |
P520S |
|
Het |
Epb41l4a |
C |
A |
18: 33,987,326 (GRCm39) |
K350N |
probably damaging |
Het |
Eprs1 |
T |
A |
1: 185,145,366 (GRCm39) |
Y1130N |
probably damaging |
Het |
Fcgrt |
T |
C |
7: 44,744,797 (GRCm39) |
T224A |
probably damaging |
Het |
Flt1 |
T |
A |
5: 147,637,177 (GRCm39) |
T39S |
probably benign |
Het |
Fxyd1 |
T |
C |
7: 30,752,896 (GRCm39) |
Y33C |
probably damaging |
Het |
Gab2 |
T |
A |
7: 96,950,633 (GRCm39) |
V442E |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,892,076 (GRCm39) |
D800G |
probably benign |
Het |
Gata4 |
C |
A |
14: 63,478,186 (GRCm39) |
A138S |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,385,131 (GRCm39) |
H751R |
possibly damaging |
Het |
H1f6 |
A |
G |
13: 23,880,455 (GRCm39) |
R203G |
possibly damaging |
Het |
Htra4 |
A |
G |
8: 25,527,093 (GRCm39) |
V234A |
possibly damaging |
Het |
Igkv4-74 |
A |
T |
6: 69,161,954 (GRCm39) |
Y72N |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,360,940 (GRCm39) |
K973E |
probably damaging |
Het |
Khdc1b |
C |
A |
1: 21,455,065 (GRCm39) |
T108K |
probably benign |
Het |
Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,432,066 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
A |
3: 86,225,474 (GRCm39) |
V666E |
probably damaging |
Het |
Mettl25 |
T |
A |
10: 105,601,871 (GRCm39) |
Y528F |
probably benign |
Het |
Nlrp12 |
A |
C |
7: 3,277,020 (GRCm39) |
|
probably null |
Het |
Nol10 |
C |
T |
12: 17,474,676 (GRCm39) |
L623F |
possibly damaging |
Het |
Oas1g |
A |
G |
5: 121,024,063 (GRCm39) |
F82S |
probably damaging |
Het |
Or1j8 |
T |
G |
2: 36,191,772 (GRCm39) |
S74A |
probably benign |
Het |
Or5k3 |
C |
T |
16: 58,969,570 (GRCm39) |
A119V |
probably damaging |
Het |
Or8g18 |
G |
A |
9: 39,149,546 (GRCm39) |
P58L |
probably benign |
Het |
Oxr1 |
G |
A |
15: 41,686,863 (GRCm39) |
E582K |
probably damaging |
Het |
Pdia3 |
A |
G |
2: 121,262,838 (GRCm39) |
D268G |
possibly damaging |
Het |
Pramel13 |
T |
C |
4: 144,119,434 (GRCm39) |
S378G |
probably damaging |
Het |
Rcor3 |
A |
G |
1: 191,786,078 (GRCm39) |
Y387H |
probably damaging |
Het |
Rigi |
T |
A |
4: 40,206,034 (GRCm39) |
I853F |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Rsl1 |
T |
C |
13: 67,330,284 (GRCm39) |
L244P |
possibly damaging |
Het |
Scn5a |
G |
T |
9: 119,324,606 (GRCm39) |
N1407K |
probably damaging |
Het |
Sdcbp |
C |
T |
4: 6,378,985 (GRCm39) |
A24V |
probably benign |
Het |
Slc22a8 |
A |
G |
19: 8,571,323 (GRCm39) |
Y18C |
possibly damaging |
Het |
Slc35d1 |
C |
T |
4: 103,072,044 (GRCm39) |
R7H |
probably damaging |
Het |
Slco6d1 |
A |
T |
1: 98,425,248 (GRCm39) |
T599S |
probably damaging |
Het |
Spata31d1e |
C |
T |
13: 59,889,437 (GRCm39) |
M794I |
not run |
Het |
St18 |
T |
A |
1: 6,872,761 (GRCm39) |
H165Q |
probably benign |
Het |
Sub1 |
C |
T |
15: 11,986,589 (GRCm39) |
R86K |
probably damaging |
Het |
Tectb |
G |
A |
19: 55,181,104 (GRCm39) |
V148M |
|
Het |
Tgfb2 |
C |
A |
1: 186,362,954 (GRCm39) |
G290V |
possibly damaging |
Het |
Tgm7 |
T |
C |
2: 120,924,191 (GRCm39) |
H577R |
probably benign |
Het |
Tle2 |
T |
C |
10: 81,422,981 (GRCm39) |
S460P |
probably damaging |
Het |
Tmem221 |
C |
A |
8: 72,011,446 (GRCm39) |
R3L |
possibly damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,212,183 (GRCm39) |
V156L |
possibly damaging |
Het |
Trav6-5 |
A |
G |
14: 53,728,964 (GRCm39) |
K75E |
probably benign |
Het |
Trip10 |
G |
A |
17: 57,569,442 (GRCm39) |
G488S |
probably damaging |
Het |
Usp34 |
A |
C |
11: 23,399,268 (GRCm39) |
K2419T |
|
Het |
Vps13d |
T |
C |
4: 144,801,622 (GRCm39) |
Q3532R |
|
Het |
Vps4a |
A |
T |
8: 107,767,529 (GRCm39) |
I163L |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,454 (GRCm39) |
H330R |
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,188,618 (GRCm39) |
I341V |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,548,973 (GRCm39) |
E105G |
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 |
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 |
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 |
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Predicted Primers |
PCR Primer
(F):5'- TGGCATTTGTGCTTTACAGTAC -3'
(R):5'- TCTGTGTGTATAAAAGTTGCACCG -3'
Sequencing Primer
(F):5'- GTGCTTTACAGTACAACACACAGTG -3'
(R):5'- ATCAGATAGGCAAGGTCTTCCTGC -3'
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Posted On |
2019-11-12 |