Incidental Mutation 'R7105:Robo1'
| ID |
551142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Robo1
|
| Ensembl Gene |
ENSMUSG00000022883 |
| Gene Name |
roundabout guidance receptor 1 |
| Synonyms |
DUTT1 |
| MMRRC Submission |
045197-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7105 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
72105194-72842983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72539049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 31
(I31F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023600]
[ENSMUST00000231580]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023600
AA Change: I31F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: I31F
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
41 |
115 |
3.15e-10 |
SMART |
|
IGc2
|
143 |
208 |
2.52e-9 |
SMART |
|
IGc2
|
235 |
298 |
3.85e-14 |
SMART |
|
IGv
|
328 |
391 |
3.71e-7 |
SMART |
|
IGc2
|
428 |
493 |
2.46e-12 |
SMART |
|
FN3
|
522 |
604 |
3.17e-13 |
SMART |
|
FN3
|
634 |
721 |
1.66e0 |
SMART |
|
FN3
|
736 |
822 |
4.28e-10 |
SMART |
|
low complexity region
|
1108 |
1125 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1157 |
N/A |
INTRINSIC |
|
low complexity region
|
1186 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1249 |
1269 |
N/A |
INTRINSIC |
|
low complexity region
|
1282 |
1298 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1357 |
N/A |
INTRINSIC |
|
low complexity region
|
1362 |
1380 |
N/A |
INTRINSIC |
|
low complexity region
|
1442 |
1449 |
N/A |
INTRINSIC |
|
low complexity region
|
1563 |
1576 |
N/A |
INTRINSIC |
|
low complexity region
|
1602 |
1611 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231580
AA Change: I49F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.3004 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (65/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a reporter allele show altered axon guidance. Mice homozygous for a null allele die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for another null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,347,842 (GRCm39) |
I3565N |
probably damaging |
Het |
| Adam8 |
T |
C |
7: 139,569,968 (GRCm39) |
E99G |
probably benign |
Het |
| Adnp2 |
A |
C |
18: 80,171,366 (GRCm39) |
H1014Q |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 111,423,920 (GRCm39) |
N315K |
probably benign |
Het |
| Ankrd33b |
G |
T |
15: 31,305,214 (GRCm39) |
N183K |
probably damaging |
Het |
| Arhgef39 |
A |
G |
4: 43,498,913 (GRCm39) |
S113P |
possibly damaging |
Het |
| Bdp1 |
G |
A |
13: 100,206,689 (GRCm39) |
P618S |
probably damaging |
Het |
| Bhlhe40 |
C |
T |
6: 108,641,997 (GRCm39) |
P314S |
possibly damaging |
Het |
| Birc2 |
A |
C |
9: 7,819,442 (GRCm39) |
I490S |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,149,516 (GRCm39) |
I698V |
probably benign |
Het |
| C4b |
G |
A |
17: 34,949,885 (GRCm39) |
T1433M |
possibly damaging |
Het |
| Car12 |
A |
G |
9: 66,659,688 (GRCm39) |
T238A |
probably damaging |
Het |
| Cend1 |
G |
A |
7: 141,007,565 (GRCm39) |
P85L |
probably benign |
Het |
| Cftr |
A |
T |
6: 18,318,971 (GRCm39) |
D1337V |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,309,491 (GRCm39) |
M248K |
probably damaging |
Het |
| Chtf8 |
A |
G |
8: 107,611,883 (GRCm39) |
F352S |
probably damaging |
Het |
| Cimip4 |
T |
A |
15: 78,270,318 (GRCm39) |
D150V |
possibly damaging |
Het |
| Csf2ra |
T |
C |
19: 61,213,458 (GRCm39) |
D384G |
possibly damaging |
Het |
| Ctnnbip1 |
T |
C |
4: 149,630,937 (GRCm39) |
S59P |
probably benign |
Het |
| Cyth3 |
A |
G |
5: 143,693,027 (GRCm39) |
N312D |
probably benign |
Het |
| Dtnb |
T |
C |
12: 3,698,391 (GRCm39) |
|
probably null |
Het |
| Duox2 |
A |
G |
2: 122,120,033 (GRCm39) |
S826P |
possibly damaging |
Het |
| Enthd1 |
C |
T |
15: 80,393,410 (GRCm39) |
A273T |
probably benign |
Het |
| Gm3138 |
T |
C |
14: 15,632,304 (GRCm39) |
V159A |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,701,638 (GRCm39) |
D632G |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,911,956 (GRCm39) |
C114S |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,105,097 (GRCm39) |
D765G |
probably damaging |
Het |
| Klf14 |
TCCCC |
TCCC |
6: 30,935,476 (GRCm39) |
|
probably null |
Het |
| Mapk12 |
G |
A |
15: 89,015,361 (GRCm39) |
P362L |
probably benign |
Het |
| Msi1 |
T |
G |
5: 115,571,929 (GRCm39) |
F96V |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 4,053,261 (GRCm39) |
V870A |
probably benign |
Het |
| Nfat5 |
T |
C |
8: 108,095,823 (GRCm39) |
S1355P |
possibly damaging |
Het |
| Oplah |
T |
C |
15: 76,181,887 (GRCm39) |
N1079D |
probably damaging |
Het |
| Or2ah1 |
G |
T |
2: 85,654,224 (GRCm39) |
R303M |
probably benign |
Het |
| Osbpl1a |
T |
A |
18: 12,900,020 (GRCm39) |
I645F |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,064,624 (GRCm39) |
S728P |
probably benign |
Het |
| Parp2 |
TTGCCATAAGTGCTAAATGAAGCC |
T |
14: 51,047,521 (GRCm39) |
|
probably null |
Het |
| Piezo1 |
A |
G |
8: 123,208,857 (GRCm39) |
I2503T |
unknown |
Het |
| Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
| Plekhs1 |
T |
A |
19: 56,465,647 (GRCm39) |
F204Y |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,537,341 (GRCm39) |
N330S |
probably benign |
Het |
| Pramel32 |
G |
A |
4: 88,548,339 (GRCm39) |
S22F |
probably damaging |
Het |
| Prep |
T |
A |
10: 45,002,159 (GRCm39) |
I438N |
probably benign |
Het |
| Prss58 |
T |
C |
6: 40,874,700 (GRCm39) |
H47R |
probably damaging |
Het |
| Rad51ap2 |
T |
G |
12: 11,508,278 (GRCm39) |
D733E |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,377,328 (GRCm39) |
Y381C |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,233,269 (GRCm39) |
V87A |
probably benign |
Het |
| Slc5a9 |
T |
C |
4: 111,755,892 (GRCm39) |
N2S |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,991,319 (GRCm39) |
D1024G |
probably damaging |
Het |
| Stat1 |
T |
G |
1: 52,190,408 (GRCm39) |
N554K |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,572,635 (GRCm39) |
D110G |
possibly damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,280,917 (GRCm39) |
|
probably null |
Het |
| Taf5l |
A |
G |
8: 124,729,951 (GRCm39) |
I246T |
probably damaging |
Het |
| Tcof1 |
A |
T |
18: 60,976,368 (GRCm39) |
D80E |
probably damaging |
Het |
| Tmem233 |
T |
C |
5: 116,221,057 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,181 (GRCm39) |
E390G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,560,610 (GRCm39) |
T29264A |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,009,019 (GRCm39) |
T1065A |
|
Het |
| Vcp |
A |
G |
4: 42,985,991 (GRCm39) |
V341A |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,748 (GRCm39) |
L135* |
probably null |
Het |
| Vmn1r57 |
T |
A |
7: 5,223,499 (GRCm39) |
I8N |
probably damaging |
Het |
| Ythdc2 |
C |
T |
18: 44,967,630 (GRCm39) |
P209S |
probably damaging |
Het |
| Zfp213 |
A |
T |
17: 23,777,178 (GRCm39) |
V288D |
probably benign |
Het |
| Zfp362 |
T |
C |
4: 128,668,319 (GRCm39) |
I418V |
probably damaging |
Het |
| Zfp707 |
C |
A |
15: 75,846,595 (GRCm39) |
T215K |
|
Het |
| Zfp957 |
G |
C |
14: 79,450,402 (GRCm39) |
R466G |
probably benign |
Het |
|
| Other mutations in Robo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01766:Robo1
|
APN |
16 |
72,801,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01937:Robo1
|
APN |
16 |
72,759,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01945:Robo1
|
APN |
16 |
72,759,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02151:Robo1
|
APN |
16 |
72,786,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02232:Robo1
|
APN |
16 |
72,768,872 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02282:Robo1
|
APN |
16 |
72,539,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02590:Robo1
|
APN |
16 |
72,840,020 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02874:Robo1
|
APN |
16 |
72,809,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02974:Robo1
|
APN |
16 |
72,803,750 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03233:Robo1
|
APN |
16 |
72,767,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4378001:Robo1
|
UTSW |
16 |
72,801,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0079:Robo1
|
UTSW |
16 |
72,730,230 (GRCm39) |
splice site |
probably benign |
|
|
R0254:Robo1
|
UTSW |
16 |
72,461,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0366:Robo1
|
UTSW |
16 |
72,539,133 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0410:Robo1
|
UTSW |
16 |
72,768,872 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0511:Robo1
|
UTSW |
16 |
72,810,013 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0563:Robo1
|
UTSW |
16 |
72,769,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0637:Robo1
|
UTSW |
16 |
72,798,839 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1239:Robo1
|
UTSW |
16 |
72,821,430 (GRCm39) |
splice site |
probably null |
|
|
R1773:Robo1
|
UTSW |
16 |
72,801,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1777:Robo1
|
UTSW |
16 |
72,801,555 (GRCm39) |
missense |
probably benign |
|
|
R1901:Robo1
|
UTSW |
16 |
72,757,092 (GRCm39) |
missense |
probably null |
1.00 |
|
R1902:Robo1
|
UTSW |
16 |
72,757,092 (GRCm39) |
missense |
probably null |
1.00 |
|
R1903:Robo1
|
UTSW |
16 |
72,757,092 (GRCm39) |
missense |
probably null |
1.00 |
|
R1996:Robo1
|
UTSW |
16 |
72,767,067 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2040:Robo1
|
UTSW |
16 |
72,730,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2266:Robo1
|
UTSW |
16 |
72,775,660 (GRCm39) |
missense |
probably benign |
|
|
R2269:Robo1
|
UTSW |
16 |
72,775,660 (GRCm39) |
missense |
probably benign |
|
|
R2433:Robo1
|
UTSW |
16 |
72,767,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3084:Robo1
|
UTSW |
16 |
72,801,625 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3085:Robo1
|
UTSW |
16 |
72,798,898 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3150:Robo1
|
UTSW |
16 |
72,767,157 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R3418:Robo1
|
UTSW |
16 |
72,832,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3610:Robo1
|
UTSW |
16 |
72,780,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3940:Robo1
|
UTSW |
16 |
72,806,631 (GRCm39) |
missense |
probably benign |
|
|
R3953:Robo1
|
UTSW |
16 |
72,821,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4692:Robo1
|
UTSW |
16 |
72,757,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Robo1
|
UTSW |
16 |
72,768,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Robo1
|
UTSW |
16 |
72,768,923 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4884:Robo1
|
UTSW |
16 |
72,701,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Robo1
|
UTSW |
16 |
72,776,756 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5150:Robo1
|
UTSW |
16 |
72,769,192 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5183:Robo1
|
UTSW |
16 |
72,539,038 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5360:Robo1
|
UTSW |
16 |
72,732,665 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5629:Robo1
|
UTSW |
16 |
72,780,598 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5804:Robo1
|
UTSW |
16 |
72,840,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6107:Robo1
|
UTSW |
16 |
72,780,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6127:Robo1
|
UTSW |
16 |
72,809,956 (GRCm39) |
missense |
probably benign |
|
|
R6128:Robo1
|
UTSW |
16 |
72,809,956 (GRCm39) |
missense |
probably benign |
|
|
R6129:Robo1
|
UTSW |
16 |
72,809,956 (GRCm39) |
missense |
probably benign |
|
|
R6191:Robo1
|
UTSW |
16 |
72,730,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6357:Robo1
|
UTSW |
16 |
72,767,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6408:Robo1
|
UTSW |
16 |
72,768,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6516:Robo1
|
UTSW |
16 |
72,821,241 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6600:Robo1
|
UTSW |
16 |
72,786,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6802:Robo1
|
UTSW |
16 |
72,730,201 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7189:Robo1
|
UTSW |
16 |
72,757,039 (GRCm39) |
nonsense |
probably null |
|
|
R7290:Robo1
|
UTSW |
16 |
72,801,408 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7296:Robo1
|
UTSW |
16 |
72,786,519 (GRCm39) |
nonsense |
probably null |
|
|
R7576:Robo1
|
UTSW |
16 |
72,767,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7605:Robo1
|
UTSW |
16 |
72,821,189 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7607:Robo1
|
UTSW |
16 |
72,360,626 (GRCm39) |
missense |
|
|
|
R7634:Robo1
|
UTSW |
16 |
72,839,866 (GRCm39) |
splice site |
probably null |
|
|
R7636:Robo1
|
UTSW |
16 |
72,360,615 (GRCm39) |
missense |
|
|
|
R7857:Robo1
|
UTSW |
16 |
72,767,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7966:Robo1
|
UTSW |
16 |
72,780,760 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7997:Robo1
|
UTSW |
16 |
72,701,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8101:Robo1
|
UTSW |
16 |
72,775,469 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8191:Robo1
|
UTSW |
16 |
72,730,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8218:Robo1
|
UTSW |
16 |
72,786,678 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8228:Robo1
|
UTSW |
16 |
72,809,768 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8292:Robo1
|
UTSW |
16 |
72,769,420 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8298:Robo1
|
UTSW |
16 |
72,769,020 (GRCm39) |
intron |
probably benign |
|
|
R8332:Robo1
|
UTSW |
16 |
72,775,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8402:Robo1
|
UTSW |
16 |
72,821,385 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8492:Robo1
|
UTSW |
16 |
72,809,911 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8730:Robo1
|
UTSW |
16 |
72,786,495 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8774:Robo1
|
UTSW |
16 |
72,832,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774-TAIL:Robo1
|
UTSW |
16 |
72,832,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8776:Robo1
|
UTSW |
16 |
72,821,141 (GRCm39) |
nonsense |
probably null |
|
|
R8776-TAIL:Robo1
|
UTSW |
16 |
72,821,141 (GRCm39) |
nonsense |
probably null |
|
|
R8905:Robo1
|
UTSW |
16 |
72,539,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Robo1
|
UTSW |
16 |
72,701,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Robo1
|
UTSW |
16 |
72,539,002 (GRCm39) |
splice site |
probably benign |
|
|
R9246:Robo1
|
UTSW |
16 |
72,769,178 (GRCm39) |
missense |
probably benign |
|
|
R9451:Robo1
|
UTSW |
16 |
72,803,718 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9509:Robo1
|
UTSW |
16 |
72,759,167 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9652:Robo1
|
UTSW |
16 |
72,821,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9653:Robo1
|
UTSW |
16 |
72,821,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9749:Robo1
|
UTSW |
16 |
72,105,257 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Robo1
|
UTSW |
16 |
72,774,688 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCAGCTATGAACAAAGTGGAC -3'
(R):5'- CCGTCCATGGACTATGCGTAAG -3'
Sequencing Primer
(F):5'- CTATGAACAAAGTGGACCCTGAG -3'
(R):5'- GAAAAATAAAGACCCGCTTGGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation