Incidental Mutation 'R1183:Mms19'
| ID |
101840 |
| 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 |
039255-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R1183 (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 41943270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 297
(D297G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000167820]
[ENSMUST00000171561]
[ENSMUST00000169775]
[ENSMUST00000167927]
[ENSMUST00000168484]
|
| AlphaFold |
Q9D071 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026168
AA Change: D400G
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: D400G
| 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: D297G
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: D297G
| 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 |
unknown
Transcript: ENSMUST00000166090
AA Change: D16G
|
| SMART Domains |
Protein: ENSMUSP00000131219
Gene: ENSMUSG00000025159
AA Change: D16G
| 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: 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: ENSMUST00000171561
AA Change: D443G
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: D443G
| 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: ENSMUST00000168737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171755
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
G |
8: 111,768,206 (GRCm39) |
Y192* |
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,634,677 (GRCm39) |
Y1100C |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,974,092 (GRCm39) |
W132R |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,416 (GRCm39) |
V497E |
probably damaging |
Het |
| Adtrp |
T |
G |
13: 41,981,813 (GRCm39) |
|
probably benign |
Het |
| Alg9 |
T |
A |
9: 50,700,833 (GRCm39) |
L201Q |
possibly damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,856,121 (GRCm39) |
I84K |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,638,725 (GRCm39) |
S288P |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,949,452 (GRCm39) |
L366Q |
possibly damaging |
Het |
| Cacna1a |
A |
G |
8: 85,306,846 (GRCm39) |
D1367G |
probably damaging |
Het |
| Card19 |
C |
T |
13: 49,358,727 (GRCm39) |
R82Q |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,292,372 (GRCm39) |
I226V |
possibly damaging |
Het |
| Ces1f |
A |
C |
8: 93,994,633 (GRCm39) |
D259E |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,416,611 (GRCm39) |
M1072K |
probably benign |
Het |
| Dcpp2 |
T |
A |
17: 24,119,468 (GRCm39) |
V94D |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,337,474 (GRCm39) |
D3209G |
possibly damaging |
Het |
| Dsg1c |
A |
G |
18: 20,416,255 (GRCm39) |
T719A |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,375,716 (GRCm39) |
W1167* |
probably null |
Het |
| Eml5 |
T |
C |
12: 98,758,305 (GRCm39) |
I1874V |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,003,926 (GRCm39) |
T645A |
probably damaging |
Het |
| F2rl2 |
T |
C |
13: 95,837,621 (GRCm39) |
L222S |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,191,731 (GRCm39) |
C495S |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,163,537 (GRCm39) |
D2106E |
probably benign |
Het |
| Fgf14 |
T |
A |
14: 124,913,936 (GRCm39) |
N65I |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,755,763 (GRCm39) |
Y497H |
probably damaging |
Het |
| Fn1 |
A |
C |
1: 71,625,404 (GRCm39) |
D2376E |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,764,662 (GRCm39) |
T453A |
possibly damaging |
Het |
| Galnt1 |
G |
T |
18: 24,404,647 (GRCm39) |
W328L |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,372 (GRCm39) |
V97A |
possibly damaging |
Het |
| Gatad1 |
A |
G |
5: 3,693,707 (GRCm39) |
V154A |
possibly damaging |
Het |
| Gdf15 |
A |
G |
8: 71,084,202 (GRCm39) |
F21L |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,029,182 (GRCm39) |
F273S |
possibly damaging |
Het |
| Invs |
A |
T |
4: 48,421,725 (GRCm39) |
R786W |
possibly damaging |
Het |
| Itfg1 |
T |
G |
8: 86,507,152 (GRCm39) |
E236A |
probably benign |
Het |
| Jak3 |
A |
T |
8: 72,137,194 (GRCm39) |
I752F |
probably damaging |
Het |
| Kcnip3 |
C |
A |
2: 127,306,985 (GRCm39) |
G144W |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,109,598 (GRCm39) |
H925R |
probably benign |
Het |
| Kdr |
C |
T |
5: 76,107,511 (GRCm39) |
A1011T |
probably damaging |
Het |
| Kif13b |
C |
A |
14: 65,019,826 (GRCm39) |
H1398Q |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,307,864 (GRCm39) |
|
probably null |
Het |
| Lrtm2 |
T |
C |
6: 119,297,846 (GRCm39) |
D65G |
probably benign |
Het |
| Lyz1 |
A |
G |
10: 117,128,715 (GRCm39) |
L10P |
probably damaging |
Het |
| Metap2 |
A |
T |
10: 93,706,046 (GRCm39) |
N245K |
probably damaging |
Het |
| Mocs3 |
A |
G |
2: 168,073,573 (GRCm39) |
D340G |
possibly damaging |
Het |
| Mtfr1l |
A |
G |
4: 134,256,436 (GRCm39) |
L243P |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,842,897 (GRCm39) |
I105T |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,748,571 (GRCm39) |
S1967P |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,100,585 (GRCm39) |
N2248S |
possibly damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,432,008 (GRCm39) |
D35G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,067,252 (GRCm39) |
M764K |
probably benign |
Het |
| Or10a3n |
A |
G |
7: 108,492,948 (GRCm39) |
L222P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,529,256 (GRCm39) |
S1753G |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,939,179 (GRCm39) |
V2070I |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,219,824 (GRCm39) |
V961A |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,103,158 (GRCm39) |
S169L |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 36,240,335 (GRCm39) |
S542T |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,381,156 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Ptges3l |
T |
C |
11: 101,312,731 (GRCm39) |
D113G |
possibly damaging |
Het |
| Pycr3 |
G |
A |
15: 75,790,647 (GRCm39) |
L71F |
probably benign |
Het |
| Ramp3 |
A |
G |
11: 6,624,867 (GRCm39) |
K54E |
possibly damaging |
Het |
| Rbpms |
C |
A |
8: 34,294,100 (GRCm39) |
Q214H |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
C |
A |
9: 37,319,348 (GRCm39) |
D565E |
probably damaging |
Het |
| S100a1 |
C |
T |
3: 90,418,641 (GRCm39) |
V58I |
probably benign |
Het |
| Setx |
T |
A |
2: 29,070,104 (GRCm39) |
D2636E |
probably benign |
Het |
| Sun2 |
A |
T |
15: 79,612,669 (GRCm39) |
V417E |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,660,519 (GRCm39) |
N99S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,064,893 (GRCm39) |
D1441G |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,896 (GRCm39) |
M627K |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,628 (GRCm39) |
Y395C |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,759,398 (GRCm39) |
Y1129H |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,275,813 (GRCm39) |
R470S |
probably damaging |
Het |
| Tsg101 |
G |
T |
7: 46,539,372 (GRCm39) |
D389E |
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,406 (GRCm39) |
L46P |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 37,997,419 (GRCm39) |
I1745V |
possibly damaging |
Het |
| Usp20 |
T |
C |
2: 30,901,797 (GRCm39) |
Y521H |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,543,019 (GRCm39) |
H4Q |
probably null |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,491 (GRCm39) |
E504D |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,086,867 (GRCm39) |
I612F |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,251,520 (GRCm39) |
H317R |
possibly damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,315 (GRCm39) |
S243G |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,419 (GRCm39) |
W73R |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,819,632 (GRCm39) |
D90E |
probably 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 |
|
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 |
|
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'- GGACAGGGAAACACTGCTCTTCAC -3'
(R):5'- TGTAGCCCAGAAGTACAGCAGGAC -3'
Sequencing Primer
(F):5'- TGCTCTTCACTCAAGACAGAGAATG -3'
(R):5'- GGCCATGTTCATAGGCTGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation