Incidental Mutation 'R2473:Six4'
| ID |
253237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Six4
|
| Ensembl Gene |
ENSMUSG00000034460 |
| Gene Name |
sine oculis-related homeobox 4 |
| Synonyms |
AREC3, TrexBF |
| MMRRC Submission |
040404-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2473 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
73146383-73160201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73150949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 532
(V532A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043208]
[ENSMUST00000175693]
|
| AlphaFold |
Q61321 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043208
AA Change: V532A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460
AA Change: V532A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
98 |
N/A |
INTRINSIC |
|
Pfam:SIX1_SD
|
101 |
211 |
1.6e-47 |
PFAM |
|
HOX
|
216 |
278 |
7.48e-17 |
SMART |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175693
|
| SMART Domains |
Protein: ENSMUSP00000135699
Gene: ENSMUSG00000034460
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
90 |
N/A |
INTRINSIC |
|
HOX
|
208 |
270 |
7.48e-17 |
SMART |
|
low complexity region
|
327 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for a targeted null mutation are viable, fertile, and exhibit no apparent abnormalities suggesting compensation by other Six family members. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b4 |
T |
G |
2: 126,200,814 (GRCm39) |
K785Q |
possibly damaging |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,392,404 (GRCm39) |
I184F |
possibly damaging |
Het |
| Ephb4 |
T |
A |
5: 137,363,962 (GRCm39) |
D611E |
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,276,464 (GRCm39) |
V13M |
possibly damaging |
Het |
| Mamdc4 |
C |
A |
2: 25,456,344 (GRCm39) |
G713V |
probably damaging |
Het |
| Marveld2 |
C |
T |
13: 100,733,829 (GRCm39) |
V269M |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,169,353 (GRCm39) |
M1508K |
probably benign |
Het |
| Mgp |
T |
C |
6: 136,850,162 (GRCm39) |
|
probably null |
Het |
| Mucl2 |
C |
G |
15: 103,927,628 (GRCm39) |
E110Q |
possibly damaging |
Het |
| Mxra8 |
T |
C |
4: 155,926,500 (GRCm39) |
F286S |
probably damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,401 (GRCm39) |
T244A |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,137,236 (GRCm39) |
S229P |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,146 (GRCm39) |
Y7H |
possibly damaging |
Het |
| Or5p70 |
C |
T |
7: 107,994,711 (GRCm39) |
A128V |
probably damaging |
Het |
| Pax3 |
C |
T |
1: 78,099,227 (GRCm39) |
|
probably null |
Het |
| Polm |
T |
C |
11: 5,779,881 (GRCm39) |
E339G |
possibly damaging |
Het |
| Sec14l4 |
T |
A |
11: 3,993,359 (GRCm39) |
V218E |
probably benign |
Het |
| Sf3b1 |
C |
T |
1: 55,038,785 (GRCm39) |
|
probably null |
Het |
| Slc35c1 |
T |
A |
2: 92,285,098 (GRCm39) |
D172V |
probably benign |
Het |
| Ttc39a |
A |
T |
4: 109,299,436 (GRCm39) |
I428F |
probably damaging |
Het |
| Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Six4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01635:Six4
|
APN |
12 |
73,155,971 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02045:Six4
|
APN |
12 |
73,155,429 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02678:Six4
|
APN |
12 |
73,159,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Six4
|
UTSW |
12 |
73,159,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3410:Six4
|
UTSW |
12 |
73,159,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3411:Six4
|
UTSW |
12 |
73,159,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4175:Six4
|
UTSW |
12 |
73,155,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Six4
|
UTSW |
12 |
73,155,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Six4
|
UTSW |
12 |
73,150,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Six4
|
UTSW |
12 |
73,159,314 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5013:Six4
|
UTSW |
12 |
73,150,400 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5782:Six4
|
UTSW |
12 |
73,150,832 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5794:Six4
|
UTSW |
12 |
73,159,124 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6429:Six4
|
UTSW |
12 |
73,150,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6650:Six4
|
UTSW |
12 |
73,150,299 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7018:Six4
|
UTSW |
12 |
73,155,727 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7464:Six4
|
UTSW |
12 |
73,159,304 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7832:Six4
|
UTSW |
12 |
73,159,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Six4
|
UTSW |
12 |
73,151,013 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7872:Six4
|
UTSW |
12 |
73,151,013 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7873:Six4
|
UTSW |
12 |
73,151,013 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7956:Six4
|
UTSW |
12 |
73,150,535 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8266:Six4
|
UTSW |
12 |
73,155,423 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8728:Six4
|
UTSW |
12 |
73,159,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9065:Six4
|
UTSW |
12 |
73,159,498 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9103:Six4
|
UTSW |
12 |
73,155,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Six4
|
UTSW |
12 |
73,155,681 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9148:Six4
|
UTSW |
12 |
73,155,681 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9430:Six4
|
UTSW |
12 |
73,150,719 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
RF012:Six4
|
UTSW |
12 |
73,150,356 (GRCm39) |
frame shift |
probably null |
|
|
RF013:Six4
|
UTSW |
12 |
73,150,356 (GRCm39) |
frame shift |
probably null |
|
|
RF014:Six4
|
UTSW |
12 |
73,150,356 (GRCm39) |
frame shift |
probably null |
|
|
RF015:Six4
|
UTSW |
12 |
73,150,356 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCTTGCATTTACTTGTGC -3'
(R):5'- GGGACTCTGCAGTTTACCATACTG -3'
Sequencing Primer
(F):5'- CATTTACTTGTGCACTGTGATTGAC -3'
(R):5'- CTGCAGTTTACCATACTGAAGCTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation