Incidental Mutation 'R4748:Mms19'
ID |
357346 |
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 |
042030-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R4748 (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 A
at 41932997 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 1031
(S1031C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026154]
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000171561]
[ENSMUST00000223802]
[ENSMUST00000167927]
[ENSMUST00000167820]
[ENSMUST00000169775]
[ENSMUST00000224562]
[ENSMUST00000225968]
|
AlphaFold |
Q9D071 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026154
|
SMART Domains |
Protein: ENSMUSP00000026154 Gene: ENSMUSG00000025157
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
81 |
103 |
N/A |
INTRINSIC |
transmembrane domain
|
115 |
137 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
151 |
289 |
1e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026168
AA Change: S988C
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000026168 Gene: ENSMUSG00000025159 AA Change: S988C
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 damaging
Transcript: ENSMUST00000163287
AA Change: S885C
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128653 Gene: ENSMUSG00000025159 AA Change: S885C
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000170209
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171561
AA Change: S1031C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130900 Gene: ENSMUSG00000025159 AA Change: S1031C
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: ENSMUST00000169779
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223768
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223802
|
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 |
noncoding transcript
Transcript: ENSMUST00000225433
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223624
|
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 |
noncoding transcript
Transcript: ENSMUST00000223785
|
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: ENSMUST00000224537
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224562
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225968
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
T |
A |
1: 138,784,394 (GRCm39) |
E54D |
possibly damaging |
Het |
Abcb6 |
C |
A |
1: 75,154,002 (GRCm39) |
G367W |
probably damaging |
Het |
Asprv1 |
A |
G |
6: 86,605,405 (GRCm39) |
M84V |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,592,333 (GRCm39) |
V291A |
probably damaging |
Het |
B4galnt4 |
T |
C |
7: 140,651,633 (GRCm39) |
F980L |
probably damaging |
Het |
Bpi |
G |
A |
2: 158,113,941 (GRCm39) |
V280I |
possibly damaging |
Het |
Bptf |
T |
C |
11: 106,986,706 (GRCm39) |
D581G |
probably damaging |
Het |
Cap2 |
T |
A |
13: 46,793,302 (GRCm39) |
Y223N |
possibly damaging |
Het |
Ccdc141 |
A |
C |
2: 76,888,324 (GRCm39) |
I480M |
possibly damaging |
Het |
Ccn4 |
C |
A |
15: 66,778,489 (GRCm39) |
Y103* |
probably null |
Het |
Ccnh |
T |
A |
13: 85,337,758 (GRCm39) |
V35E |
probably benign |
Het |
Cd6 |
G |
T |
19: 10,771,589 (GRCm39) |
S433* |
probably null |
Het |
Ceacam10 |
A |
C |
7: 24,480,477 (GRCm39) |
I83L |
probably benign |
Het |
Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
Chia1 |
A |
T |
3: 106,029,765 (GRCm39) |
D73V |
probably damaging |
Het |
Commd2 |
G |
A |
3: 57,554,215 (GRCm39) |
T162I |
probably benign |
Het |
Creb3l3 |
C |
T |
10: 80,921,881 (GRCm39) |
A316T |
probably benign |
Het |
Cul4a |
A |
G |
8: 13,173,526 (GRCm39) |
K1R |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 44,005,176 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
T |
C |
6: 38,173,776 (GRCm39) |
T131A |
possibly damaging |
Het |
Dctn4 |
A |
C |
18: 60,683,308 (GRCm39) |
K295N |
probably damaging |
Het |
Dnah1 |
A |
G |
14: 31,041,902 (GRCm39) |
V23A |
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,767,048 (GRCm39) |
K91E |
possibly damaging |
Het |
Dzip1l |
A |
G |
9: 99,524,704 (GRCm39) |
D275G |
probably damaging |
Het |
Enam |
C |
A |
5: 88,649,402 (GRCm39) |
P304T |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,125,812 (GRCm39) |
Y107H |
probably damaging |
Het |
Exd2 |
T |
C |
12: 80,527,350 (GRCm39) |
L27P |
probably damaging |
Het |
Fam135b |
T |
A |
15: 71,335,904 (GRCm39) |
D430V |
probably benign |
Het |
Fam222b |
C |
T |
11: 78,045,429 (GRCm39) |
T202I |
possibly damaging |
Het |
Fmod |
T |
A |
1: 133,968,912 (GRCm39) |
N317K |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,448,514 (GRCm39) |
F2301L |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,338,088 (GRCm39) |
F127S |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,243,848 (GRCm39) |
S132G |
probably benign |
Het |
Gm4787 |
A |
G |
12: 81,424,830 (GRCm39) |
C443R |
probably damaging |
Het |
Grik2 |
T |
C |
10: 49,411,437 (GRCm39) |
M5V |
possibly damaging |
Het |
Helb |
T |
C |
10: 119,920,754 (GRCm39) |
D1063G |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt90 |
G |
A |
15: 101,463,768 (GRCm39) |
L429F |
probably damaging |
Het |
Lrr1 |
C |
A |
12: 69,221,236 (GRCm39) |
T126K |
probably benign |
Het |
Mgat4e |
C |
A |
1: 134,469,766 (GRCm39) |
D93Y |
probably damaging |
Het |
Mllt3 |
A |
T |
4: 87,759,018 (GRCm39) |
S343R |
possibly damaging |
Het |
Mtrf1 |
C |
T |
14: 79,649,090 (GRCm39) |
H237Y |
probably damaging |
Het |
Nckap1l |
T |
A |
15: 103,381,483 (GRCm39) |
L408Q |
probably damaging |
Het |
Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
Or11g1 |
T |
G |
14: 50,651,333 (GRCm39) |
L111V |
possibly damaging |
Het |
Or13c3 |
A |
G |
4: 52,856,076 (GRCm39) |
S146P |
possibly damaging |
Het |
Or4a39 |
C |
T |
2: 89,236,599 (GRCm39) |
V275I |
probably benign |
Het |
Or5d36 |
T |
A |
2: 87,900,956 (GRCm39) |
I257L |
probably benign |
Het |
Otud7a |
T |
C |
7: 63,385,663 (GRCm39) |
S376P |
possibly damaging |
Het |
Pabpc2 |
A |
T |
18: 39,907,322 (GRCm39) |
K196* |
probably null |
Het |
Paqr8 |
T |
A |
1: 21,005,637 (GRCm39) |
C264S |
probably benign |
Het |
Pgm1 |
T |
A |
4: 99,839,176 (GRCm39) |
F459Y |
probably benign |
Het |
Phip |
C |
A |
9: 82,790,922 (GRCm39) |
V675L |
probably benign |
Het |
Pnma1 |
T |
G |
12: 84,194,497 (GRCm39) |
T69P |
probably benign |
Het |
Ppp1r14bl |
T |
C |
1: 23,140,951 (GRCm39) |
E121G |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,210,383 (GRCm39) |
C242* |
probably null |
Het |
Rabep1 |
T |
A |
11: 70,799,294 (GRCm39) |
V306E |
probably benign |
Het |
Ros1 |
C |
T |
10: 51,992,093 (GRCm39) |
D1377N |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,794,750 (GRCm39) |
T121A |
possibly damaging |
Het |
Scaf11 |
G |
A |
15: 96,318,302 (GRCm39) |
Q421* |
probably null |
Het |
Shcbp1 |
G |
A |
8: 4,794,512 (GRCm39) |
T427M |
probably damaging |
Het |
Shprh |
G |
A |
10: 11,046,220 (GRCm39) |
R979H |
probably damaging |
Het |
Slc22a27 |
C |
T |
19: 7,903,241 (GRCm39) |
C163Y |
probably benign |
Het |
Slc27a1 |
A |
G |
8: 72,033,319 (GRCm39) |
D287G |
probably damaging |
Het |
Slc27a1 |
C |
T |
8: 72,033,453 (GRCm39) |
T310M |
possibly damaging |
Het |
Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
Slc35f2 |
A |
T |
9: 53,679,069 (GRCm39) |
M1L |
probably benign |
Het |
Sltm |
G |
C |
9: 70,488,647 (GRCm39) |
R599T |
probably damaging |
Het |
Spic |
T |
A |
10: 88,511,752 (GRCm39) |
Q168L |
probably damaging |
Het |
Spink6 |
G |
A |
18: 44,215,428 (GRCm39) |
|
probably null |
Het |
Stac2 |
T |
C |
11: 97,932,198 (GRCm39) |
E235G |
possibly damaging |
Het |
Szt2 |
G |
A |
4: 118,246,388 (GRCm39) |
Q957* |
probably null |
Het |
Them7 |
A |
T |
2: 105,208,991 (GRCm39) |
T104S |
possibly damaging |
Het |
Tmed4 |
T |
A |
11: 6,221,716 (GRCm39) |
I207F |
possibly damaging |
Het |
Tmem248 |
A |
G |
5: 130,265,731 (GRCm39) |
E178G |
probably benign |
Het |
Tomm40l |
G |
A |
1: 171,047,131 (GRCm39) |
R296* |
probably null |
Het |
Trim80 |
C |
A |
11: 115,338,964 (GRCm39) |
T598N |
possibly damaging |
Het |
Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
Vil1 |
C |
T |
1: 74,460,425 (GRCm39) |
A194V |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,916,565 (GRCm39) |
M393L |
probably damaging |
Het |
Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
Vps33b |
G |
T |
7: 79,939,796 (GRCm39) |
A516S |
probably damaging |
Het |
Zc3h6 |
G |
A |
2: 128,844,160 (GRCm39) |
G235R |
probably damaging |
Het |
Zfp612 |
T |
A |
8: 110,815,304 (GRCm39) |
D170E |
probably benign |
Het |
Zfp746 |
A |
G |
6: 48,041,490 (GRCm39) |
I412T |
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 |
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'- TATTCCTGACAGACACGGGAG -3'
(R):5'- TCAGGTCATCCGAGCCTTAG -3'
Sequencing Primer
(F):5'- CCAAGGTCTTTTCCTCAAATACAAG -3'
(R):5'- GTCATCCGAGCCTTAGCCAAG -3'
|
Posted On |
2015-11-11 |