Incidental Mutation 'R1981:Gtf3c1'
| ID |
222319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c1
|
| Ensembl Gene |
ENSMUSG00000032777 |
| Gene Name |
general transcription factor III C 1 |
| Synonyms |
|
| MMRRC Submission |
039993-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1981 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125243444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1720
(L1720P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205659]
[ENSMUST00000206183]
|
| AlphaFold |
Q8K284 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055506
AA Change: L1816P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: L1816P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:B-block_TFIIIC
|
174 |
250 |
5.1e-20 |
PFAM |
|
low complexity region
|
344 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
|
low complexity region
|
1158 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1372 |
N/A |
INTRINSIC |
|
low complexity region
|
1423 |
1443 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1620 |
N/A |
INTRINSIC |
|
low complexity region
|
1895 |
1915 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205659
AA Change: L1720P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206183
|
| Meta Mutation Damage Score |
0.1061 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
99% (80/81) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks1 |
T |
C |
17: 28,204,095 (GRCm39) |
V181A |
probably damaging |
Het |
| Aqp4 |
T |
C |
18: 15,526,608 (GRCm39) |
D291G |
probably damaging |
Het |
| Atad1 |
G |
T |
19: 32,673,210 (GRCm39) |
D224E |
probably benign |
Het |
| Atp1a3 |
T |
G |
7: 24,700,400 (GRCm39) |
E33A |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,754,024 (GRCm39) |
F1100L |
possibly damaging |
Het |
| Car7 |
C |
T |
8: 105,275,009 (GRCm39) |
|
probably benign |
Het |
| Casp8 |
C |
A |
1: 58,868,121 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
T |
10: 60,214,530 (GRCm39) |
L1495H |
probably damaging |
Het |
| Ceacam9 |
T |
G |
7: 16,459,232 (GRCm39) |
L177R |
probably benign |
Het |
| Col16a1 |
C |
G |
4: 129,959,236 (GRCm39) |
P346A |
unknown |
Het |
| Cyp2c29 |
A |
G |
19: 39,296,216 (GRCm39) |
|
probably null |
Het |
| Cyp3a13 |
T |
C |
5: 137,910,118 (GRCm39) |
S139G |
probably damaging |
Het |
| Dapk2 |
A |
G |
9: 66,176,180 (GRCm39) |
H327R |
probably benign |
Het |
| Ddx19b |
T |
C |
8: 111,735,975 (GRCm39) |
T357A |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,365,151 (GRCm39) |
Y1944H |
probably damaging |
Het |
| Dnai2 |
T |
A |
11: 114,623,755 (GRCm39) |
V6E |
probably damaging |
Het |
| Eipr1 |
T |
C |
12: 28,913,024 (GRCm39) |
Y242H |
probably damaging |
Het |
| Fam149a |
T |
G |
8: 45,834,778 (GRCm39) |
D7A |
probably damaging |
Het |
| Fam217a |
T |
A |
13: 35,100,737 (GRCm39) |
D140V |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,045,813 (GRCm39) |
C3944Y |
probably damaging |
Het |
| Fezf2 |
G |
T |
14: 12,344,405 (GRCm38) |
P261T |
probably benign |
Het |
| Gcsam |
A |
T |
16: 45,440,337 (GRCm39) |
T127S |
probably damaging |
Het |
| Git2 |
C |
T |
5: 114,887,620 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
T |
C |
3: 28,969,984 (GRCm39) |
|
probably null |
Het |
| H2-T9 |
T |
A |
17: 36,439,614 (GRCm39) |
D122V |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,220,321 (GRCm39) |
T28A |
probably benign |
Het |
| Igf2r |
G |
A |
17: 12,952,790 (GRCm39) |
Q219* |
probably null |
Het |
| Impdh1 |
T |
A |
6: 29,206,450 (GRCm39) |
D129V |
possibly damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Ltbp3 |
A |
G |
19: 5,808,107 (GRCm39) |
Q1250R |
probably benign |
Het |
| Mansc4 |
T |
A |
6: 146,977,173 (GRCm39) |
I148F |
probably benign |
Het |
| Mast2 |
T |
C |
4: 116,172,037 (GRCm39) |
Y569C |
probably damaging |
Het |
| Mcoln3 |
A |
T |
3: 145,846,345 (GRCm39) |
K552* |
probably null |
Het |
| Mctp2 |
T |
C |
7: 71,814,446 (GRCm39) |
Q601R |
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,987,513 (GRCm39) |
N859S |
probably benign |
Het |
| Myo19 |
A |
T |
11: 84,782,996 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Myo1h |
T |
C |
5: 114,491,898 (GRCm39) |
F676S |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,801,429 (GRCm39) |
T1876A |
probably benign |
Het |
| Nav3 |
G |
T |
10: 109,554,951 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
T |
C |
2: 25,145,236 (GRCm39) |
Y43C |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,989,764 (GRCm39) |
V1102A |
probably damaging |
Het |
| Nmnat3 |
T |
C |
9: 98,292,352 (GRCm39) |
I199T |
possibly damaging |
Het |
| Nsun7 |
T |
C |
5: 66,418,557 (GRCm39) |
S96P |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,326 (GRCm39) |
V149A |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,899,900 (GRCm39) |
|
probably benign |
Het |
| Or10v9 |
T |
G |
19: 11,832,371 (GRCm39) |
Q315H |
possibly damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,586 (GRCm39) |
I278F |
probably benign |
Het |
| Or5bw2 |
A |
G |
7: 6,573,557 (GRCm39) |
D189G |
probably benign |
Het |
| Or6z7 |
T |
C |
7: 6,483,931 (GRCm39) |
M75V |
probably benign |
Het |
| Or8b3 |
T |
C |
9: 38,315,031 (GRCm39) |
L287P |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,486 (GRCm39) |
I208N |
possibly damaging |
Het |
| Pax2 |
G |
A |
19: 44,806,904 (GRCm39) |
D301N |
probably damaging |
Het |
| Pcsk4 |
T |
A |
10: 80,161,613 (GRCm39) |
E176V |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,187,284 (GRCm39) |
P3675S |
probably benign |
Het |
| Plekho2 |
A |
T |
9: 65,465,974 (GRCm39) |
L138Q |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,975,051 (GRCm39) |
V382E |
probably damaging |
Het |
| Prkcsh |
A |
G |
9: 21,924,164 (GRCm39) |
D458G |
probably damaging |
Het |
| Prr11 |
T |
A |
11: 86,994,116 (GRCm39) |
D100V |
probably damaging |
Het |
| Qars1 |
A |
G |
9: 108,392,227 (GRCm39) |
N136D |
probably damaging |
Het |
| Rbm15b |
A |
G |
9: 106,758,822 (GRCm39) |
|
probably benign |
Het |
| Rel |
C |
T |
11: 23,692,761 (GRCm39) |
G424D |
probably benign |
Het |
| Rsrc1 |
A |
G |
3: 67,257,338 (GRCm39) |
D250G |
probably benign |
Het |
| Samt3 |
A |
C |
X: 85,090,740 (GRCm39) |
M211L |
probably benign |
Het |
| Scn2a |
C |
A |
2: 65,520,514 (GRCm39) |
N503K |
probably damaging |
Het |
| Sh2d6 |
G |
A |
6: 72,494,527 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,976,157 (GRCm39) |
T475A |
probably benign |
Het |
| Ssxb10 |
A |
G |
X: 8,197,258 (GRCm39) |
D77G |
probably benign |
Het |
| Tbx20 |
T |
A |
9: 24,682,209 (GRCm39) |
K48N |
possibly damaging |
Het |
| Tead1 |
C |
A |
7: 112,490,952 (GRCm39) |
D231E |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,578,555 (GRCm39) |
R180H |
probably damaging |
Het |
| Tjp1 |
A |
T |
7: 64,962,603 (GRCm39) |
F1111L |
probably damaging |
Het |
| Tlr11 |
T |
A |
14: 50,599,445 (GRCm39) |
I477K |
possibly damaging |
Het |
| Ttc13 |
A |
G |
8: 125,440,926 (GRCm39) |
|
probably null |
Het |
| Ttc17 |
T |
C |
2: 94,157,049 (GRCm39) |
N411S |
probably benign |
Het |
| Usp15 |
T |
A |
10: 122,960,946 (GRCm39) |
|
probably benign |
Het |
| Usp18 |
A |
G |
6: 121,229,476 (GRCm39) |
K32E |
probably benign |
Het |
| Vmn1r12 |
A |
T |
6: 57,136,646 (GRCm39) |
M248L |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp930 |
T |
A |
8: 69,680,824 (GRCm39) |
L172H |
probably damaging |
Het |
| Zfp976 |
G |
A |
7: 42,263,046 (GRCm39) |
H264Y |
probably damaging |
Het |
|
| Other mutations in Gtf3c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Gtf3c1
|
APN |
7 |
125,243,430 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL00535:Gtf3c1
|
APN |
7 |
125,243,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00778:Gtf3c1
|
APN |
7 |
125,266,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00832:Gtf3c1
|
APN |
7 |
125,253,632 (GRCm39) |
splice site |
probably benign |
|
|
IGL01383:Gtf3c1
|
APN |
7 |
125,298,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01472:Gtf3c1
|
APN |
7 |
125,250,226 (GRCm39) |
splice site |
probably benign |
|
|
IGL01743:Gtf3c1
|
APN |
7 |
125,262,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01867:Gtf3c1
|
APN |
7 |
125,261,548 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02016:Gtf3c1
|
APN |
7 |
125,267,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Gtf3c1
|
APN |
7 |
125,258,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02121:Gtf3c1
|
APN |
7 |
125,245,903 (GRCm39) |
nonsense |
probably null |
|
|
IGL02226:Gtf3c1
|
APN |
7 |
125,267,162 (GRCm39) |
splice site |
probably null |
|
|
IGL02376:Gtf3c1
|
APN |
7 |
125,268,168 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02581:Gtf3c1
|
APN |
7 |
125,245,687 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02750:Gtf3c1
|
APN |
7 |
125,275,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03063:Gtf3c1
|
APN |
7 |
125,245,675 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03167:Gtf3c1
|
APN |
7 |
125,269,752 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0052:Gtf3c1
|
UTSW |
7 |
125,267,143 (GRCm39) |
splice site |
probably null |
|
|
R0266:Gtf3c1
|
UTSW |
7 |
125,243,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0378:Gtf3c1
|
UTSW |
7 |
125,246,786 (GRCm39) |
nonsense |
probably null |
|
|
R0387:Gtf3c1
|
UTSW |
7 |
125,280,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Gtf3c1
|
UTSW |
7 |
125,262,188 (GRCm39) |
nonsense |
probably null |
|
|
R0458:Gtf3c1
|
UTSW |
7 |
125,243,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0613:Gtf3c1
|
UTSW |
7 |
125,243,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0634:Gtf3c1
|
UTSW |
7 |
125,256,649 (GRCm39) |
unclassified |
probably benign |
|
|
R0658:Gtf3c1
|
UTSW |
7 |
125,298,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0904:Gtf3c1
|
UTSW |
7 |
125,268,014 (GRCm39) |
splice site |
probably benign |
|
|
R1051:Gtf3c1
|
UTSW |
7 |
125,306,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Gtf3c1
|
UTSW |
7 |
125,292,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1590:Gtf3c1
|
UTSW |
7 |
125,275,833 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1782:Gtf3c1
|
UTSW |
7 |
125,266,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Gtf3c1
|
UTSW |
7 |
125,280,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2697:Gtf3c1
|
UTSW |
7 |
125,243,126 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3963:Gtf3c1
|
UTSW |
7 |
125,292,397 (GRCm39) |
splice site |
probably null |
|
|
R4125:Gtf3c1
|
UTSW |
7 |
125,246,622 (GRCm39) |
nonsense |
probably null |
|
|
R4127:Gtf3c1
|
UTSW |
7 |
125,246,622 (GRCm39) |
nonsense |
probably null |
|
|
R4646:Gtf3c1
|
UTSW |
7 |
125,258,266 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4653:Gtf3c1
|
UTSW |
7 |
125,273,272 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4668:Gtf3c1
|
UTSW |
7 |
125,266,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Gtf3c1
|
UTSW |
7 |
125,262,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Gtf3c1
|
UTSW |
7 |
125,246,664 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5149:Gtf3c1
|
UTSW |
7 |
125,267,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5286:Gtf3c1
|
UTSW |
7 |
125,262,580 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5437:Gtf3c1
|
UTSW |
7 |
125,266,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Gtf3c1
|
UTSW |
7 |
125,269,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Gtf3c1
|
UTSW |
7 |
125,303,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5656:Gtf3c1
|
UTSW |
7 |
125,261,826 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5754:Gtf3c1
|
UTSW |
7 |
125,243,237 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5969:Gtf3c1
|
UTSW |
7 |
125,244,848 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6009:Gtf3c1
|
UTSW |
7 |
125,246,602 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6223:Gtf3c1
|
UTSW |
7 |
125,275,797 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6580:Gtf3c1
|
UTSW |
7 |
125,243,519 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6628:Gtf3c1
|
UTSW |
7 |
125,267,246 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6774:Gtf3c1
|
UTSW |
7 |
125,240,793 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6781:Gtf3c1
|
UTSW |
7 |
125,258,369 (GRCm39) |
nonsense |
probably null |
|
|
R6978:Gtf3c1
|
UTSW |
7 |
125,244,706 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7078:Gtf3c1
|
UTSW |
7 |
125,244,914 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7096:Gtf3c1
|
UTSW |
7 |
125,295,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7146:Gtf3c1
|
UTSW |
7 |
125,271,993 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7246:Gtf3c1
|
UTSW |
7 |
125,268,266 (GRCm39) |
|
|
|
|
R7330:Gtf3c1
|
UTSW |
7 |
125,303,055 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7345:Gtf3c1
|
UTSW |
7 |
125,244,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Gtf3c1
|
UTSW |
7 |
125,241,713 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7490:Gtf3c1
|
UTSW |
7 |
125,246,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7555:Gtf3c1
|
UTSW |
7 |
125,244,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Gtf3c1
|
UTSW |
7 |
125,271,994 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7949:Gtf3c1
|
UTSW |
7 |
125,250,253 (GRCm39) |
missense |
probably benign |
|
|
R8123:Gtf3c1
|
UTSW |
7 |
125,303,196 (GRCm39) |
start gained |
probably benign |
|
|
R8295:Gtf3c1
|
UTSW |
7 |
125,262,234 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8421:Gtf3c1
|
UTSW |
7 |
125,298,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8438:Gtf3c1
|
UTSW |
7 |
125,241,701 (GRCm39) |
nonsense |
probably null |
|
|
R8517:Gtf3c1
|
UTSW |
7 |
125,253,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Gtf3c1
|
UTSW |
7 |
125,272,227 (GRCm39) |
unclassified |
probably benign |
|
|
R9005:Gtf3c1
|
UTSW |
7 |
125,303,069 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9156:Gtf3c1
|
UTSW |
7 |
125,244,949 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9292:Gtf3c1
|
UTSW |
7 |
125,273,563 (GRCm39) |
intron |
probably benign |
|
|
R9400:Gtf3c1
|
UTSW |
7 |
125,275,683 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9658:Gtf3c1
|
UTSW |
7 |
125,306,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Gtf3c1
|
UTSW |
7 |
125,262,199 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
X0065:Gtf3c1
|
UTSW |
7 |
125,240,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gtf3c1
|
UTSW |
7 |
125,303,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Gtf3c1
|
UTSW |
7 |
125,266,294 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACGGACATCCTGTAGTGTG -3'
(R):5'- ATACTTGACCCTAGCTGGAGTAC -3'
Sequencing Primer
(F):5'- ACATCCTGTAGTGTGGGCTTC -3'
(R):5'- TAGCTGGAGTACCAACCACTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation