Incidental Mutation 'R8394:Evx2'
ID |
647515 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Evx2
|
Ensembl Gene |
ENSMUSG00000001815 |
Gene Name |
even-skipped homeobox 2 |
Synonyms |
Evx-2 |
MMRRC Submission |
067758-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.920)
|
Stock # |
R8394 (G1)
|
Quality Score |
97.0078 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
74483335-74489901 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74486321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 356
(L356S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001867]
[ENSMUST00000173623]
|
AlphaFold |
P49749 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001867
AA Change: L355S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000001867 Gene: ENSMUSG00000001815 AA Change: L355S
Domain | Start | End | E-Value | Type |
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
low complexity region
|
106 |
111 |
N/A |
INTRINSIC |
low complexity region
|
146 |
187 |
N/A |
INTRINSIC |
HOX
|
190 |
252 |
5.66e-26 |
SMART |
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
low complexity region
|
348 |
387 |
N/A |
INTRINSIC |
low complexity region
|
396 |
433 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173623
AA Change: L356S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000134131 Gene: ENSMUSG00000001815 AA Change: L356S
Domain | Start | End | E-Value | Type |
low complexity region
|
83 |
98 |
N/A |
INTRINSIC |
low complexity region
|
107 |
112 |
N/A |
INTRINSIC |
low complexity region
|
147 |
188 |
N/A |
INTRINSIC |
HOX
|
191 |
253 |
5.66e-26 |
SMART |
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
low complexity region
|
349 |
388 |
N/A |
INTRINSIC |
low complexity region
|
397 |
434 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene is located at the 5' end of the Hoxd gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. The encoded protein plays a role in limb morphogenesis. [provided by RefSeq, Aug 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, male infertility, short limbs, and abnormalities in phalanx, carpal bone and metacarpal bone morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
T |
C |
14: 59,379,623 (GRCm39) |
N137S |
probably benign |
Het |
4930505A04Rik |
T |
A |
11: 30,404,880 (GRCm39) |
|
probably null |
Het |
Abcc8 |
A |
G |
7: 45,803,977 (GRCm39) |
I399T |
probably benign |
Het |
Aldh3b2 |
A |
C |
19: 4,029,461 (GRCm39) |
Q278P |
probably benign |
Het |
Arl8b |
A |
G |
6: 108,760,244 (GRCm39) |
D10G |
possibly damaging |
Het |
Baiap3 |
T |
C |
17: 25,469,096 (GRCm39) |
N229S |
probably benign |
Het |
Chrdl2 |
T |
C |
7: 99,666,292 (GRCm39) |
S71P |
possibly damaging |
Het |
Cmbl |
A |
G |
15: 31,585,541 (GRCm39) |
M142V |
possibly damaging |
Het |
Cpt1b |
A |
G |
15: 89,306,490 (GRCm39) |
|
probably null |
Het |
Crybg3 |
T |
C |
16: 59,378,651 (GRCm39) |
K868E |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,411,986 (GRCm39) |
I792V |
probably benign |
Het |
Hspa14 |
C |
T |
2: 3,513,670 (GRCm39) |
|
probably null |
Het |
Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
Il7r |
A |
G |
15: 9,516,504 (GRCm39) |
F99S |
probably damaging |
Het |
Klra2 |
A |
T |
6: 131,222,273 (GRCm39) |
V6D |
possibly damaging |
Het |
Lce3c |
T |
C |
3: 92,852,760 (GRCm39) |
S74P |
unknown |
Het |
Nectin2 |
C |
T |
7: 19,467,137 (GRCm39) |
|
probably null |
Het |
Nfil3 |
A |
G |
13: 53,121,849 (GRCm39) |
S352P |
probably benign |
Het |
Nme6 |
T |
A |
9: 109,664,394 (GRCm39) |
M1K |
probably null |
Het |
Or52z13 |
A |
T |
7: 103,247,404 (GRCm39) |
I294F |
probably damaging |
Het |
Otogl |
A |
G |
10: 107,722,326 (GRCm39) |
|
probably null |
Het |
Plcb1 |
T |
C |
2: 135,159,710 (GRCm39) |
V391A |
probably damaging |
Het |
Ptf1a |
T |
A |
2: 19,450,746 (GRCm39) |
D25E |
probably damaging |
Het |
Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
Scube1 |
T |
C |
15: 83,492,492 (GRCm39) |
Y944C |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,729,542 (GRCm39) |
I1039T |
probably benign |
Het |
Senp7 |
G |
T |
16: 55,990,190 (GRCm39) |
W646L |
possibly damaging |
Het |
Sphkap |
A |
T |
1: 83,253,797 (GRCm39) |
N1317K |
probably benign |
Het |
Strc |
G |
T |
2: 121,209,490 (GRCm39) |
Q278K |
probably benign |
Het |
Tbc1d30 |
T |
A |
10: 121,183,013 (GRCm39) |
R142* |
probably null |
Het |
Tmtc3 |
T |
C |
10: 100,282,808 (GRCm39) |
I916V |
probably damaging |
Het |
Tomm40l |
A |
T |
1: 171,048,776 (GRCm39) |
H79Q |
probably damaging |
Het |
Txndc12 |
T |
A |
4: 108,713,420 (GRCm39) |
|
probably null |
Het |
Vmn2r2 |
T |
C |
3: 64,044,858 (GRCm39) |
N96S |
probably damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,168,776 (GRCm39) |
T785A |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,011,862 (GRCm39) |
D1276G |
probably damaging |
Het |
|
Other mutations in Evx2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0133:Evx2
|
UTSW |
2 |
74,489,426 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0195:Evx2
|
UTSW |
2 |
74,489,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R0549:Evx2
|
UTSW |
2 |
74,489,478 (GRCm39) |
missense |
probably benign |
|
R0610:Evx2
|
UTSW |
2 |
74,486,331 (GRCm39) |
missense |
probably benign |
0.16 |
R0645:Evx2
|
UTSW |
2 |
74,488,238 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1608:Evx2
|
UTSW |
2 |
74,488,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1769:Evx2
|
UTSW |
2 |
74,489,501 (GRCm39) |
missense |
probably benign |
0.00 |
R2156:Evx2
|
UTSW |
2 |
74,486,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R2383:Evx2
|
UTSW |
2 |
74,488,393 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4849:Evx2
|
UTSW |
2 |
74,489,675 (GRCm39) |
missense |
probably benign |
0.34 |
R5407:Evx2
|
UTSW |
2 |
74,488,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R6167:Evx2
|
UTSW |
2 |
74,489,606 (GRCm39) |
missense |
probably damaging |
0.96 |
R6704:Evx2
|
UTSW |
2 |
74,486,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Evx2
|
UTSW |
2 |
74,489,448 (GRCm39) |
missense |
probably benign |
0.00 |
R8757:Evx2
|
UTSW |
2 |
74,486,226 (GRCm39) |
missense |
probably benign |
0.09 |
R9217:Evx2
|
UTSW |
2 |
74,488,109 (GRCm39) |
critical splice donor site |
probably null |
|
X0017:Evx2
|
UTSW |
2 |
74,488,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCGGGCAGGTTTCTTTC -3'
(R):5'- TACATGATGACACACGCGGC -3'
Sequencing Primer
(F):5'- TGCAGCCAAAGTCCGAG -3'
(R):5'- TGCACTACTACCCGCACGTG -3'
|
Posted On |
2020-09-02 |