Incidental Mutation 'R4175:Six4'
| ID |
318276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Six4
|
| Ensembl Gene |
ENSMUSG00000034460 |
| Gene Name |
sine oculis-related homeobox 4 |
| Synonyms |
AREC3, TrexBF |
| MMRRC Submission |
041013-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4175 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
73146383-73160201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73155605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 454
(T454I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043208]
[ENSMUST00000175693]
|
| AlphaFold |
Q61321 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043208
AA Change: T454I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036150
Gene: ENSMUSG00000034460
AA Change: T454I
| 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 damaging
Transcript: ENSMUST00000175693
AA Change: T446I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135699
Gene: ENSMUSG00000034460
AA Change: T446I
| 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 |
|
| Meta Mutation Damage Score |
0.0663 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (46/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd63 |
T |
C |
2: 118,533,100 (GRCm39) |
M274V |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,860,050 (GRCm39) |
D724V |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,779,653 (GRCm39) |
N43S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,861 (GRCm39) |
H1280R |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,370,057 (GRCm39) |
V139M |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Clmp |
A |
T |
9: 40,682,432 (GRCm39) |
N72I |
probably benign |
Het |
| Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,813,520 (GRCm39) |
F506L |
probably benign |
Het |
| Ctbp1 |
A |
G |
5: 33,424,250 (GRCm39) |
S47P |
probably damaging |
Het |
| Dus1l |
G |
A |
11: 120,686,506 (GRCm39) |
R12C |
possibly damaging |
Het |
| Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
| Epb41l4b |
A |
G |
4: 57,076,556 (GRCm39) |
V326A |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,364,294 (GRCm39) |
|
probably benign |
Het |
| Gm27013 |
T |
A |
6: 130,654,110 (GRCm39) |
T451S |
probably benign |
Het |
| Ifi208 |
A |
T |
1: 173,510,267 (GRCm39) |
M141L |
probably benign |
Het |
| Inpp5e |
A |
G |
2: 26,290,937 (GRCm39) |
S377P |
probably damaging |
Het |
| Kat2a |
A |
G |
11: 100,596,092 (GRCm39) |
L822P |
probably damaging |
Het |
| Kcnip2 |
G |
C |
19: 45,800,654 (GRCm39) |
T24S |
probably benign |
Het |
| Med17 |
A |
G |
9: 15,178,765 (GRCm39) |
Y469H |
possibly damaging |
Het |
| Mindy3 |
C |
T |
2: 12,410,676 (GRCm39) |
C77Y |
probably damaging |
Het |
| Mmp1a |
A |
G |
9: 7,467,236 (GRCm39) |
T271A |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,128,020 (GRCm39) |
S118T |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,260,962 (GRCm39) |
D70E |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,882,027 (GRCm39) |
V39D |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,467,829 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,889 (GRCm39) |
K836E |
probably damaging |
Het |
| Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
| Pik3r1 |
A |
T |
13: 101,838,240 (GRCm39) |
L272H |
probably damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,838,241 (GRCm39) |
L272F |
probably benign |
Het |
| Prrc2b |
G |
GCT |
2: 32,108,820 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
G |
10: 107,547,778 (GRCm39) |
I207L |
probably benign |
Het |
| Rasa2 |
G |
T |
9: 96,442,830 (GRCm39) |
T531K |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,731,416 (GRCm39) |
|
probably benign |
Het |
| Slc7a13 |
G |
A |
4: 19,819,492 (GRCm39) |
G231R |
probably null |
Het |
| Slco3a1 |
T |
A |
7: 73,968,302 (GRCm39) |
N473Y |
probably damaging |
Het |
| Tapt1 |
G |
A |
5: 44,334,447 (GRCm39) |
L515F |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,008,218 (GRCm39) |
I253T |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Unc13a |
A |
G |
8: 72,120,368 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,173,970 (GRCm39) |
V101A |
probably benign |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,840 (GRCm39) |
T125A |
possibly damaging |
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 |
|
R2473:Six4
|
UTSW |
12 |
73,150,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- GTGCATTGCTGGTACCAAATG -3'
(R):5'- CAAAATGTCTTCAAACATTGTGGGC -3'
Sequencing Primer
(F):5'- GCTGGTACCAAATGAAGCTTTTACC -3'
(R):5'- ATTGTGGGCAATGGCATAGCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation