Incidental Mutation 'R4176:Six4'
| ID |
319524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Six4
|
| Ensembl Gene |
ENSMUSG00000034460 |
| Gene Name |
sine oculis-related homeobox 4 |
| Synonyms |
AREC3, TrexBF |
| MMRRC Submission |
041014-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4176 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,522,000 (GRCm39) |
E1274G |
possibly damaging |
Het |
| Abi3bp |
A |
G |
16: 56,472,563 (GRCm39) |
E424G |
probably damaging |
Het |
| Ankrd10 |
A |
G |
8: 11,662,644 (GRCm39) |
I363T |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,334,361 (GRCm39) |
N204K |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,463,098 (GRCm39) |
S954* |
probably null |
Het |
| Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
| Dagla |
G |
T |
19: 10,240,461 (GRCm39) |
D256E |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,713,720 (GRCm39) |
F230L |
probably benign |
Het |
| Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
| Emilin2 |
A |
T |
17: 71,581,258 (GRCm39) |
D489E |
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,754 (GRCm39) |
V87A |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,623,365 (GRCm39) |
|
probably null |
Het |
| Fam149a |
A |
G |
8: 45,794,321 (GRCm39) |
Y614H |
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,926,131 (GRCm39) |
|
probably null |
Het |
| Gabrb3 |
T |
C |
7: 57,241,061 (GRCm39) |
F13S |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,320,452 (GRCm39) |
A4499T |
probably benign |
Het |
| Islr2 |
A |
T |
9: 58,107,183 (GRCm39) |
C26S |
probably damaging |
Het |
| Jup |
T |
A |
11: 100,263,287 (GRCm39) |
D696V |
probably benign |
Het |
| Kcnq5 |
A |
C |
1: 21,605,392 (GRCm39) |
V171G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,914,680 (GRCm39) |
S667A |
possibly damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,418,755 (GRCm39) |
T293A |
possibly damaging |
Het |
| Lrp1b |
C |
A |
2: 41,298,405 (GRCm39) |
C138F |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,427,426 (GRCm39) |
H1388L |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,909,085 (GRCm39) |
I76T |
probably benign |
Het |
| Or2z8 |
A |
G |
8: 72,812,028 (GRCm39) |
Y168C |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,947 (GRCm39) |
D19G |
probably benign |
Het |
| Pbx1 |
A |
G |
1: 168,018,841 (GRCm39) |
|
probably null |
Het |
| Pelp1 |
A |
T |
11: 70,287,693 (GRCm39) |
W410R |
probably damaging |
Het |
| Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,806,971 (GRCm39) |
L3482P |
probably benign |
Het |
| Plekhn1 |
C |
T |
4: 156,306,258 (GRCm39) |
G604E |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,793,561 (GRCm39) |
T571A |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,760,828 (GRCm39) |
S252T |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,978,863 (GRCm39) |
M280K |
probably damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,996,206 (GRCm39) |
M293V |
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,866,973 (GRCm39) |
E585D |
probably benign |
Het |
| Slc34a2 |
T |
G |
5: 53,224,910 (GRCm39) |
C350W |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,394,586 (GRCm39) |
|
probably null |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,671,083 (GRCm39) |
K633R |
possibly damaging |
Het |
| Usp38 |
A |
C |
8: 81,719,928 (GRCm39) |
S434A |
probably benign |
Het |
| Zbtb16 |
A |
G |
9: 48,571,101 (GRCm39) |
F555S |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,125,705 (GRCm39) |
S256T |
probably benign |
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 |
|
R4175: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'- AACCAACACATGCCCTGGTG -3'
(R):5'- TTGTGGGCAATGGCATAGC -3'
Sequencing Primer
(F):5'- AACACATGCCCTGGTGCATTG -3'
(R):5'- GCATAGCCATGACAGACATCCTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation