Incidental Mutation 'R7687:Mms19'
| ID |
593184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mms19
|
| Ensembl Gene |
ENSMUSG00000025159 |
| Gene Name |
MMS19 cytosolic iron-sulfur assembly component |
| Synonyms |
2610042O15Rik, Mms19l, C86341, Mms19 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R7687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41943607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 417
(M417K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000167820]
[ENSMUST00000167927]
[ENSMUST00000171561]
[ENSMUST00000168484]
[ENSMUST00000169775]
|
| AlphaFold |
Q9D071 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026168
AA Change: M374K
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: M374K
| 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: M271K
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: M271K
| 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 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 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 |
possibly damaging
Transcript: ENSMUST00000171561
AA Change: M417K
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: M417K
| 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: 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,297,341 (GRCm39) |
K2383R |
probably benign |
Het |
| Acly |
C |
T |
11: 100,395,680 (GRCm39) |
|
probably null |
Het |
| Baiap3 |
T |
A |
17: 25,468,311 (GRCm39) |
I276F |
possibly damaging |
Het |
| Cdc14b |
A |
T |
13: 64,357,007 (GRCm39) |
D419E |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,305,085 (GRCm39) |
P2165T |
probably benign |
Het |
| Clk4 |
A |
G |
11: 51,172,225 (GRCm39) |
D476G |
probably benign |
Het |
| Dera |
A |
G |
6: 137,813,878 (GRCm39) |
T10A |
|
Het |
| Dip2c |
A |
T |
13: 9,654,617 (GRCm39) |
T742S |
probably benign |
Het |
| Dohh |
C |
A |
10: 81,223,640 (GRCm39) |
A231E |
probably benign |
Het |
| Dot1l |
T |
G |
10: 80,625,202 (GRCm39) |
S1150A |
possibly damaging |
Het |
| Eea1 |
T |
A |
10: 95,862,460 (GRCm39) |
I794N |
probably benign |
Het |
| En2 |
T |
C |
5: 28,375,287 (GRCm39) |
S277P |
probably damaging |
Het |
| Erich1 |
A |
G |
8: 14,080,691 (GRCm39) |
L276P |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,924,224 (GRCm38) |
N1779S |
probably damaging |
Het |
| Frzb |
T |
A |
2: 80,254,979 (GRCm39) |
T186S |
probably benign |
Het |
| Gdf7 |
T |
A |
12: 8,348,257 (GRCm39) |
R347* |
probably null |
Het |
| Ighv9-4 |
T |
C |
12: 114,263,883 (GRCm39) |
I17V |
not run |
Het |
| Ipo13 |
G |
A |
4: 117,769,088 (GRCm39) |
P235S |
probably benign |
Het |
| Itga2 |
C |
A |
13: 115,002,796 (GRCm39) |
G565C |
probably damaging |
Het |
| Kcnc4 |
CCCGCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGCCGCCGCCGC |
3: 107,365,925 (GRCm39) |
|
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,401,355 (GRCm39) |
I440T |
probably damaging |
Het |
| Kdm3a |
T |
A |
6: 71,576,476 (GRCm39) |
K779N |
possibly damaging |
Het |
| Kmt2d |
C |
T |
15: 98,760,001 (GRCm39) |
D1086N |
unknown |
Het |
| Kntc1 |
A |
G |
5: 123,897,152 (GRCm39) |
I172V |
probably benign |
Het |
| Maip1 |
A |
G |
1: 57,451,003 (GRCm39) |
E215G |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,962,157 (GRCm39) |
V185A |
probably damaging |
Het |
| Naa11 |
A |
T |
5: 97,539,648 (GRCm39) |
V170E |
probably benign |
Het |
| Ncapg |
C |
T |
5: 45,857,227 (GRCm39) |
P980S |
probably benign |
Het |
| Or2aj5 |
T |
C |
16: 19,424,485 (GRCm39) |
N310S |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,355,506 (GRCm39) |
D675G |
probably damaging |
Het |
| Pdlim5 |
A |
G |
3: 141,983,608 (GRCm39) |
S382P |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,804,390 (GRCm39) |
I2184F |
|
Het |
| Plau |
A |
G |
14: 20,889,866 (GRCm39) |
Y237C |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,915,806 (GRCm39) |
T586A |
probably benign |
Het |
| Rapgef6 |
T |
G |
11: 54,551,901 (GRCm39) |
I923S |
possibly damaging |
Het |
| Rbfox2 |
C |
T |
15: 77,190,694 (GRCm39) |
G17D |
unknown |
Het |
| Sema3b |
T |
C |
9: 107,481,013 (GRCm39) |
D108G |
probably damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,485,331 (GRCm39) |
I297T |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,639,128 (GRCm39) |
F261L |
probably benign |
Het |
| Tcp10a |
T |
A |
17: 7,612,507 (GRCm39) |
V433D |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,753 (GRCm39) |
E437G |
probably damaging |
Het |
| Tll1 |
G |
T |
8: 64,574,526 (GRCm39) |
Y109* |
probably null |
Het |
| Tmem79 |
A |
G |
3: 88,239,888 (GRCm39) |
V274A |
probably damaging |
Het |
| Tnfrsf23 |
G |
A |
7: 143,235,199 (GRCm39) |
S55L |
probably benign |
Het |
| Ubd |
T |
C |
17: 37,504,865 (GRCm39) |
|
probably null |
Het |
| Ubl3 |
C |
A |
5: 148,442,985 (GRCm39) |
R105L |
possibly damaging |
Het |
| Ubl7 |
A |
T |
9: 57,821,867 (GRCm39) |
D72V |
probably damaging |
Het |
| Wdr55 |
T |
C |
18: 36,895,076 (GRCm39) |
S81P |
probably damaging |
Het |
| Wtip |
T |
C |
7: 33,816,044 (GRCm39) |
Y344C |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,357 (GRCm39) |
S269P |
possibly damaging |
Het |
| Zkscan2 |
A |
C |
7: 123,099,085 (GRCm39) |
S36A |
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 |
|
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'- TGCAGCCTATGAACATGGCC -3'
(R):5'- ACAGATGAGACTTGGGTGCC -3'
Sequencing Primer
(F):5'- ATGAACATGGCCACTCTCCTGG -3'
(R):5'- GTCCCTTTCTTGGAGAGACTGATAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation