Incidental Mutation 'R5315:Mms19'
| ID |
405815 |
| 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 |
042898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R5315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41943201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 320
(R320Q)
|
| 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: R423Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: R423Q
| 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: R320Q
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: R320Q
| 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: R39Q
|
| SMART Domains |
Protein: ENSMUSP00000131219
Gene: ENSMUSG00000025159
AA Change: R39Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000171755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171561
AA Change: R466Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: R466Q
| 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 |
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: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
| AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
| Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
| Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
| Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
| Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
| Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
| Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
| Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
| Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
| Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
| S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
| Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
| Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
| Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
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 |
|
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'- ACAACCTGCATCTGTGTGTC -3'
(R):5'- AATGCATGTCTCCTAGAATCCC -3'
Sequencing Primer
(F):5'- GTGTGTCCTTGTAGCCACCG -3'
(R):5'- AGCTCTTAAAATCTGCCCAACGTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation