Incidental Mutation 'R7050:Mms19'
| ID |
568676 |
| 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 |
045241-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R7050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 41939185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000167820]
[ENSMUST00000167927]
[ENSMUST00000168484]
[ENSMUST00000169775]
[ENSMUST00000171561]
|
| AlphaFold |
Q9D071 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026168
|
| SMART Domains |
Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
| 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
|
| SMART Domains |
Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
| 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 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 null
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: 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171561
|
| SMART Domains |
Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,864,544 (GRCm39) |
A346V |
possibly damaging |
Het |
| Adcy5 |
A |
T |
16: 35,124,070 (GRCm39) |
M1250L |
possibly damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,839,388 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,716,446 (GRCm39) |
I1944N |
probably benign |
Het |
| Cabin1 |
G |
T |
10: 75,549,376 (GRCm39) |
P1343Q |
probably damaging |
Het |
| Cbr3 |
A |
T |
16: 93,487,282 (GRCm39) |
Q155L |
possibly damaging |
Het |
| Cd44 |
A |
G |
2: 102,644,482 (GRCm39) |
V577A |
probably damaging |
Het |
| Coil |
C |
T |
11: 88,872,014 (GRCm39) |
T125I |
possibly damaging |
Het |
| Fmo3 |
T |
C |
1: 162,791,473 (GRCm39) |
N268S |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,413,577 (GRCm39) |
T248A |
probably damaging |
Het |
| Ggt7 |
G |
A |
2: 155,348,295 (GRCm39) |
T43I |
probably benign |
Het |
| Gm3250 |
C |
A |
10: 77,617,814 (GRCm39) |
C188F |
possibly damaging |
Het |
| Iqce |
G |
A |
5: 140,651,846 (GRCm39) |
S375F |
possibly damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,006,220 (GRCm39) |
T544A |
probably damaging |
Het |
| Islr |
A |
G |
9: 58,065,000 (GRCm39) |
L169P |
probably damaging |
Het |
| Kdr |
G |
T |
5: 76,110,780 (GRCm39) |
T904N |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,503,158 (GRCm39) |
T974A |
possibly damaging |
Het |
| Mycl |
T |
C |
4: 122,890,813 (GRCm39) |
|
probably null |
Het |
| Nab1 |
A |
T |
1: 52,529,894 (GRCm39) |
M1K |
probably null |
Het |
| Naip6 |
C |
T |
13: 100,452,007 (GRCm39) |
G202R |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,457,788 (GRCm39) |
S2159L |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,112,888 (GRCm39) |
M4302K |
possibly damaging |
Het |
| Npy1r |
A |
G |
8: 67,157,192 (GRCm39) |
D204G |
probably benign |
Het |
| Or2q1 |
T |
A |
6: 42,794,504 (GRCm39) |
V33D |
possibly damaging |
Het |
| Pkdcc |
T |
A |
17: 83,523,073 (GRCm39) |
I60N |
possibly damaging |
Het |
| Plcxd3 |
T |
C |
15: 4,546,200 (GRCm39) |
V68A |
probably damaging |
Het |
| Prss36 |
G |
T |
7: 127,543,937 (GRCm39) |
R145S |
possibly damaging |
Het |
| Pygl |
C |
A |
12: 70,266,396 (GRCm39) |
G40C |
probably damaging |
Het |
| Rev1 |
A |
G |
1: 38,093,352 (GRCm39) |
L1064P |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Serpina3k |
T |
C |
12: 104,307,403 (GRCm39) |
F212L |
possibly damaging |
Het |
| Slc16a4 |
A |
T |
3: 107,208,148 (GRCm39) |
E219D |
probably benign |
Het |
| Slc6a20b |
A |
T |
9: 123,427,608 (GRCm39) |
W434R |
probably damaging |
Het |
| Slco1c1 |
T |
A |
6: 141,493,652 (GRCm39) |
F278Y |
probably damaging |
Het |
| Tbx21 |
T |
G |
11: 97,005,596 (GRCm39) |
D123A |
probably benign |
Het |
| Trp73 |
A |
G |
4: 154,165,899 (GRCm39) |
F35L |
probably damaging |
Het |
| Tspan17 |
T |
C |
13: 54,943,876 (GRCm39) |
V135A |
probably benign |
Het |
| Uba2 |
G |
A |
7: 33,845,687 (GRCm39) |
Q479* |
probably null |
Het |
| Ubr2 |
A |
G |
17: 47,272,528 (GRCm39) |
V889A |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,590,067 (GRCm39) |
|
probably null |
Het |
| Vinac1 |
T |
C |
2: 128,869,891 (GRCm39) |
|
probably null |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,703 (GRCm39) |
I89N |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,202,657 (GRCm39) |
I140T |
probably benign |
Het |
| Yipf2 |
A |
T |
9: 21,503,474 (GRCm39) |
D24E |
probably benign |
Het |
| Zfp251 |
T |
G |
15: 76,738,496 (GRCm39) |
Q199P |
possibly damaging |
Het |
| Zfp37 |
A |
T |
4: 62,109,908 (GRCm39) |
N385K |
possibly damaging |
Het |
| Zfp655 |
G |
A |
5: 145,181,545 (GRCm39) |
E468K |
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 |
|
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'- CCTAATAGTCTATGGTGCTTTTGAGAG -3'
(R):5'- ACCTTGACCCCAAATTTCAGGTAC -3'
Sequencing Primer
(F):5'- GAGAGACCCTTTCTTTGTGTCAC -3'
(R):5'- ATTGGCCTCGAACTCAGAGATCTG -3'
|
| Posted On |
2019-09-11 |
Incidental Mutation