Incidental Mutation 'R2081:Mms22l'
| ID |
229463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mms22l
|
| Ensembl Gene |
ENSMUSG00000045751 |
| Gene Name |
MMS22-like, DNA repair protein |
| Synonyms |
F730047E07Rik |
| MMRRC Submission |
040086-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2081 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
24496451-24602950 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24536150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 540
(Y540H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050446]
[ENSMUST00000108222]
[ENSMUST00000154496]
|
| AlphaFold |
B1AUR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050446
AA Change: Y540H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751
AA Change: Y540H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS22L_N
|
26 |
395 |
1.1e-199 |
PFAM |
|
Pfam:MMS22L_N
|
392 |
690 |
4.6e-155 |
PFAM |
|
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
770 |
N/A |
INTRINSIC |
|
Pfam:MMS22L_C
|
809 |
1186 |
2.3e-133 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108222
AA Change: Y580H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751
AA Change: Y580H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS22L_N
|
26 |
730 |
N/A |
PFAM |
|
low complexity region
|
738 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
810 |
N/A |
INTRINSIC |
|
Pfam:MMS22L_C
|
849 |
1225 |
1.4e-142 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131282
AA Change: Y308H
|
| SMART Domains |
Protein: ENSMUSP00000133800
Gene: ENSMUSG00000045751
AA Change: Y308H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS22L_N
|
1 |
459 |
1.3e-239 |
PFAM |
|
low complexity region
|
467 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
539 |
N/A |
INTRINSIC |
|
Pfam:MMS22L_C
|
578 |
733 |
1.9e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154496
|
| SMART Domains |
Protein: ENSMUSP00000134140
Gene: ENSMUSG00000045751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS22L_N
|
1 |
85 |
3.1e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173079
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants exist for this gene, but the full-length nature of only one has been determined to date. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation die prenatally. Heterozygous mice exhibit defects in pinna responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,211,085 (GRCm39) |
T28A |
possibly damaging |
Het |
| Actl11 |
G |
A |
9: 107,807,396 (GRCm39) |
G573D |
probably benign |
Het |
| Adam39 |
T |
A |
8: 41,279,879 (GRCm39) |
*757K |
probably null |
Het |
| Agpat4 |
T |
C |
17: 12,370,771 (GRCm39) |
I38T |
possibly damaging |
Het |
| Ap3d1 |
A |
C |
10: 80,568,770 (GRCm39) |
I36S |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,863,508 (GRCm39) |
F784L |
probably damaging |
Het |
| Atg5lrt |
T |
C |
10: 95,972,601 (GRCm39) |
I46T |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,092,955 (GRCm39) |
I430N |
probably damaging |
Het |
| Atrip |
T |
A |
9: 108,901,807 (GRCm39) |
|
probably null |
Het |
| C2cd4b |
G |
T |
9: 67,667,859 (GRCm39) |
R285L |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,228,699 (GRCm39) |
E711G |
probably benign |
Het |
| Clcn6 |
T |
C |
4: 148,095,525 (GRCm39) |
Y685C |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,890,019 (GRCm39) |
D1447V |
probably damaging |
Het |
| Crispld1 |
T |
A |
1: 17,832,403 (GRCm39) |
V463D |
probably damaging |
Het |
| Crybg2 |
T |
G |
4: 133,816,131 (GRCm39) |
F1612V |
possibly damaging |
Het |
| Dclk1 |
T |
C |
3: 55,429,346 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
G |
T |
13: 55,821,829 (GRCm39) |
V834L |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,852,045 (GRCm39) |
D1734G |
possibly damaging |
Het |
| Dpep1 |
T |
C |
8: 123,926,117 (GRCm39) |
V152A |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,041,275 (GRCm39) |
E301G |
probably damaging |
Het |
| Elf3 |
C |
T |
1: 135,184,814 (GRCm39) |
C124Y |
probably benign |
Het |
| Eno2 |
A |
G |
6: 124,740,088 (GRCm39) |
V316A |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,823,426 (GRCm39) |
E820G |
possibly damaging |
Het |
| Evpl |
A |
T |
11: 116,125,092 (GRCm39) |
H123Q |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,200,503 (GRCm39) |
Y857F |
possibly damaging |
Het |
| Fbrsl1 |
T |
A |
5: 110,519,491 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
A |
G |
3: 84,881,820 (GRCm39) |
D432G |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,576,232 (GRCm39) |
L592Q |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,272 (GRCm39) |
C648S |
probably damaging |
Het |
| Gm5150 |
A |
T |
3: 16,045,109 (GRCm39) |
S39T |
probably benign |
Het |
| Gse1 |
C |
A |
8: 121,293,219 (GRCm39) |
P177Q |
probably damaging |
Het |
| Heatr4 |
G |
A |
12: 84,027,096 (GRCm39) |
R54W |
probably damaging |
Het |
| Hpgd |
C |
A |
8: 56,760,677 (GRCm39) |
Q125K |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Mast2 |
A |
T |
4: 116,187,671 (GRCm39) |
|
probably null |
Het |
| Mfsd11 |
A |
G |
11: 116,752,381 (GRCm39) |
T177A |
possibly damaging |
Het |
| Mlx |
T |
C |
11: 100,978,257 (GRCm39) |
S36P |
probably benign |
Het |
| Mlxipl |
T |
A |
5: 135,142,492 (GRCm39) |
V102D |
probably damaging |
Het |
| Msc |
T |
C |
1: 14,825,941 (GRCm39) |
D11G |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,574,020 (GRCm39) |
S699R |
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,405,881 (GRCm39) |
S1106P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,925,008 (GRCm39) |
E5703G |
possibly damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,313,405 (GRCm39) |
M161T |
probably benign |
Het |
| Pabpn1 |
A |
G |
14: 55,133,115 (GRCm39) |
K38E |
probably damaging |
Het |
| Padi3 |
A |
T |
4: 140,526,290 (GRCm39) |
L141Q |
probably damaging |
Het |
| Pakap |
G |
A |
4: 57,855,927 (GRCm39) |
E419K |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,122,657 (GRCm39) |
N742D |
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,674,132 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
T |
C |
5: 104,608,077 (GRCm39) |
V192A |
probably benign |
Het |
| Ppp6r2 |
T |
A |
15: 89,166,332 (GRCm39) |
M750K |
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,604,980 (GRCm39) |
Y783* |
probably null |
Het |
| Prox2 |
T |
A |
12: 85,141,782 (GRCm39) |
Q140H |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,290,883 (GRCm39) |
I440K |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,496,383 (GRCm39) |
M283T |
probably benign |
Het |
| Sec23a |
G |
A |
12: 59,045,067 (GRCm39) |
Q192* |
probably null |
Het |
| Sh2b1 |
A |
G |
7: 126,071,862 (GRCm39) |
S108P |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tkfc |
G |
A |
19: 10,574,742 (GRCm39) |
A166V |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
| Trim47 |
A |
G |
11: 115,997,239 (GRCm39) |
F505S |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,641,337 (GRCm39) |
F154L |
possibly damaging |
Het |
| Ubap2l |
C |
T |
3: 89,946,271 (GRCm39) |
G111D |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,381,277 (GRCm39) |
I848N |
possibly damaging |
Het |
| Veph1 |
T |
C |
3: 65,968,523 (GRCm39) |
Y740C |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,083 (GRCm39) |
H799L |
possibly damaging |
Het |
| Wdr31 |
T |
A |
4: 62,374,180 (GRCm39) |
M270L |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,347,913 (GRCm39) |
S884P |
probably benign |
Het |
| Zswim6 |
T |
A |
13: 107,909,930 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Mms22l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01648:Mms22l
|
APN |
4 |
24,502,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Mms22l
|
APN |
4 |
24,505,349 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02533:Mms22l
|
APN |
4 |
24,581,099 (GRCm39) |
splice site |
probably benign |
|
|
IGL02612:Mms22l
|
APN |
4 |
24,508,482 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02685:Mms22l
|
APN |
4 |
24,591,133 (GRCm39) |
missense |
probably benign |
|
|
IGL03000:Mms22l
|
APN |
4 |
24,581,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03006:Mms22l
|
APN |
4 |
24,521,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4280001:Mms22l
|
UTSW |
4 |
24,581,149 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0157:Mms22l
|
UTSW |
4 |
24,588,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Mms22l
|
UTSW |
4 |
24,497,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0669:Mms22l
|
UTSW |
4 |
24,517,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1056:Mms22l
|
UTSW |
4 |
24,586,344 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1232:Mms22l
|
UTSW |
4 |
24,536,274 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1389:Mms22l
|
UTSW |
4 |
24,591,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Mms22l
|
UTSW |
4 |
24,591,084 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1604:Mms22l
|
UTSW |
4 |
24,502,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Mms22l
|
UTSW |
4 |
24,598,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1929:Mms22l
|
UTSW |
4 |
24,535,936 (GRCm39) |
unclassified |
probably benign |
|
|
R2024:Mms22l
|
UTSW |
4 |
24,588,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Mms22l
|
UTSW |
4 |
24,591,084 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2147:Mms22l
|
UTSW |
4 |
24,580,063 (GRCm39) |
nonsense |
probably null |
|
|
R2379:Mms22l
|
UTSW |
4 |
24,496,929 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2496:Mms22l
|
UTSW |
4 |
24,521,269 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3508:Mms22l
|
UTSW |
4 |
24,586,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3625:Mms22l
|
UTSW |
4 |
24,505,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:Mms22l
|
UTSW |
4 |
24,517,115 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4422:Mms22l
|
UTSW |
4 |
24,503,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Mms22l
|
UTSW |
4 |
24,502,792 (GRCm39) |
nonsense |
probably null |
|
|
R4799:Mms22l
|
UTSW |
4 |
24,580,052 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4825:Mms22l
|
UTSW |
4 |
24,536,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Mms22l
|
UTSW |
4 |
24,588,347 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5276:Mms22l
|
UTSW |
4 |
24,578,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Mms22l
|
UTSW |
4 |
24,496,882 (GRCm39) |
unclassified |
probably benign |
|
|
R5394:Mms22l
|
UTSW |
4 |
24,517,115 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6905:Mms22l
|
UTSW |
4 |
24,503,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7206:Mms22l
|
UTSW |
4 |
24,591,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7290:Mms22l
|
UTSW |
4 |
24,517,139 (GRCm39) |
missense |
probably benign |
|
|
R7425:Mms22l
|
UTSW |
4 |
24,596,287 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7524:Mms22l
|
UTSW |
4 |
24,536,138 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7536:Mms22l
|
UTSW |
4 |
24,581,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7722:Mms22l
|
UTSW |
4 |
24,517,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7757:Mms22l
|
UTSW |
4 |
24,598,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7764:Mms22l
|
UTSW |
4 |
24,598,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Mms22l
|
UTSW |
4 |
24,505,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8220:Mms22l
|
UTSW |
4 |
24,536,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Mms22l
|
UTSW |
4 |
24,578,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8472:Mms22l
|
UTSW |
4 |
24,502,943 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8495:Mms22l
|
UTSW |
4 |
24,496,908 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
R8699:Mms22l
|
UTSW |
4 |
24,507,363 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8795:Mms22l
|
UTSW |
4 |
24,536,245 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8932:Mms22l
|
UTSW |
4 |
24,533,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Mms22l
|
UTSW |
4 |
24,580,070 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8996:Mms22l
|
UTSW |
4 |
24,598,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9184:Mms22l
|
UTSW |
4 |
24,596,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9194:Mms22l
|
UTSW |
4 |
24,600,185 (GRCm39) |
nonsense |
probably null |
|
|
R9204:Mms22l
|
UTSW |
4 |
24,581,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Mms22l
|
UTSW |
4 |
24,588,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Mms22l
|
UTSW |
4 |
24,578,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9403:Mms22l
|
UTSW |
4 |
24,580,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9788:Mms22l
|
UTSW |
4 |
24,586,204 (GRCm39) |
missense |
probably benign |
0.08 |
|
RF005:Mms22l
|
UTSW |
4 |
24,517,207 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAACTAACTGAAGTTGGCCTAC -3'
(R):5'- CTGGCAGTAACATGCTAAATCC -3'
Sequencing Primer
(F):5'- AGTTGGCCTACAGAACTTTTTCAGC -3'
(R):5'- CCATCATTGAGAAGATGCTCATGAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation