Incidental Mutation 'R3551:Mms19'
ID |
268368 |
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 |
040668-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R3551 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41938237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 720
(T720A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000171561]
[ENSMUST00000167820]
[ENSMUST00000168484]
[ENSMUST00000167927]
[ENSMUST00000169775]
|
AlphaFold |
Q9D071 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026168
AA Change: T677A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000026168 Gene: ENSMUSG00000025159 AA Change: T677A
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 benign
Transcript: ENSMUST00000163287
AA Change: T574A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000128653 Gene: ENSMUSG00000025159 AA Change: T574A
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: T293A
|
SMART Domains |
Protein: ENSMUSP00000131219 Gene: ENSMUSG00000025159 AA Change: T293A
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: T720A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000130900 Gene: ENSMUSG00000025159 AA Change: T720A
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: ENSMUST00000167820
AA Change: T141A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000130399 Gene: ENSMUSG00000025159 AA Change: T141A
Domain | Start | End | E-Value | Type |
Pfam:MMS19_C
|
63 |
286 |
7.9e-56 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170209
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169779
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
Adam24 |
G |
C |
8: 41,132,632 (GRCm39) |
W33C |
probably benign |
Het |
Adgrl2 |
A |
T |
3: 148,564,599 (GRCm39) |
V327E |
probably damaging |
Het |
Aqp7 |
T |
A |
4: 41,045,329 (GRCm39) |
N17I |
probably benign |
Het |
Bicra |
T |
A |
7: 15,713,658 (GRCm39) |
Q848L |
probably benign |
Het |
C4b |
T |
C |
17: 34,960,846 (GRCm39) |
E240G |
possibly damaging |
Het |
Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,508,842 (GRCm39) |
N50I |
probably damaging |
Het |
Dcaf7 |
A |
G |
11: 105,945,622 (GRCm39) |
T324A |
probably benign |
Het |
Dnah12 |
G |
A |
14: 26,492,929 (GRCm39) |
R1230H |
probably benign |
Het |
Dsg4 |
G |
A |
18: 20,584,813 (GRCm39) |
V176M |
probably damaging |
Het |
Ect2l |
A |
G |
10: 18,039,141 (GRCm39) |
I339T |
probably damaging |
Het |
Edc4 |
A |
T |
8: 106,612,126 (GRCm39) |
I138F |
probably damaging |
Het |
Ercc6l2 |
T |
A |
13: 63,992,409 (GRCm39) |
V401E |
probably damaging |
Het |
Gm3269 |
T |
A |
14: 16,033,003 (GRCm39) |
V260D |
possibly damaging |
Het |
Gm4076 |
C |
T |
13: 85,275,269 (GRCm39) |
|
noncoding transcript |
Het |
Gm4922 |
A |
T |
10: 18,660,244 (GRCm39) |
N159K |
probably benign |
Het |
Gm5134 |
G |
T |
10: 75,836,281 (GRCm39) |
A421S |
probably benign |
Het |
Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
Ipo4 |
A |
G |
14: 55,870,560 (GRCm39) |
V288A |
probably benign |
Het |
Kng2 |
A |
G |
16: 22,830,745 (GRCm39) |
|
probably null |
Het |
Lrfn1 |
T |
C |
7: 28,159,479 (GRCm39) |
L466P |
possibly damaging |
Het |
Magi1 |
T |
A |
6: 93,676,610 (GRCm39) |
K916N |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
Npas2 |
A |
T |
1: 39,326,643 (GRCm39) |
M43L |
probably benign |
Het |
Nup43 |
A |
G |
10: 7,550,778 (GRCm39) |
D216G |
possibly damaging |
Het |
Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
Pear1 |
A |
G |
3: 87,665,439 (GRCm39) |
F145L |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,569,302 (GRCm39) |
S355P |
possibly damaging |
Het |
Prr14l |
A |
T |
5: 32,985,963 (GRCm39) |
|
probably null |
Het |
Ptpn12 |
T |
C |
5: 21,194,047 (GRCm39) |
K742E |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
Sema4c |
G |
C |
1: 36,592,804 (GRCm39) |
T138S |
probably benign |
Het |
Slc4a2 |
C |
T |
5: 24,635,099 (GRCm39) |
T168M |
probably benign |
Het |
Slco1a7 |
T |
C |
6: 141,654,322 (GRCm39) |
K647E |
probably benign |
Het |
Spice1 |
G |
T |
16: 44,178,232 (GRCm39) |
S85I |
probably damaging |
Het |
Thrb |
T |
A |
14: 17,963,214 (GRCm38) |
I59N |
probably damaging |
Het |
Trav7-1 |
A |
G |
14: 52,892,756 (GRCm39) |
D103G |
probably damaging |
Het |
Ubap2l |
G |
T |
3: 89,922,758 (GRCm39) |
T766N |
unknown |
Het |
Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
Zfp704 |
A |
G |
3: 9,539,585 (GRCm39) |
V255A |
probably damaging |
Het |
Zfp759 |
T |
C |
13: 67,287,031 (GRCm39) |
V194A |
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 |
|
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'- GCTGAGGGATTTCCACCTAC -3'
(R):5'- CTCTGATGTGTGAGCCTAGAG -3'
Sequencing Primer
(F):5'- CATGTAATGGACCCAGAAGACACTTG -3'
(R):5'- ATGTGTGAGCCTAGAGTCTATATCC -3'
|
Posted On |
2015-02-19 |