Incidental Mutation 'R1193:Sp4'
| ID |
100959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp4
|
| Ensembl Gene |
ENSMUSG00000025323 |
| Gene Name |
trans-acting transcription factor 4 |
| Synonyms |
5730497N03Rik, HF1-b, HF-1b |
| MMRRC Submission |
039265-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.525)
|
| Stock # |
R1193 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
118198668-118265175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118262981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 355
(R355H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026367]
[ENSMUST00000221844]
[ENSMUST00000222314]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026367
AA Change: R355H
PolyPhen 2
Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026367
Gene: ENSMUSG00000025323
AA Change: R355H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
146 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
157 |
255 |
4.15e-6 |
PROSPERO |
|
internal_repeat_2
|
203 |
265 |
5.92e-5 |
PROSPERO |
|
low complexity region
|
272 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
445 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
451 |
506 |
5.92e-5 |
PROSPERO |
|
internal_repeat_1
|
461 |
539 |
4.15e-6 |
PROSPERO |
|
low complexity region
|
540 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
638 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
645 |
669 |
2.82e0 |
SMART |
|
ZnF_C2H2
|
675 |
699 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
705 |
727 |
1.47e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221844
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222314
AA Change: R355H
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac arrhythmias and most die shortly after birth. Surviving males complete spermatogenesis but do not copulate, while females show delayed sexual maturation and reduction in spleen, thymus, and uterus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
G |
3: 32,766,293 (GRCm39) |
D49G |
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Gpm6a |
A |
T |
8: 55,500,268 (GRCm39) |
|
probably null |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nudt5 |
G |
A |
2: 5,868,411 (GRCm39) |
S103N |
probably benign |
Het |
| Or5an9 |
A |
T |
19: 12,187,803 (GRCm39) |
Y291F |
probably damaging |
Het |
| Or6z3 |
A |
G |
7: 6,463,715 (GRCm39) |
N69S |
probably benign |
Het |
| Pds5a |
G |
T |
5: 65,795,145 (GRCm39) |
A697E |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,510,242 (GRCm39) |
D806G |
probably damaging |
Het |
| Rars1 |
C |
T |
11: 35,700,153 (GRCm39) |
A548T |
possibly damaging |
Het |
| Rfk |
C |
T |
19: 17,372,685 (GRCm39) |
P69L |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Tcaim |
T |
C |
9: 122,647,895 (GRCm39) |
Y137H |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tmem150c |
T |
C |
5: 100,231,451 (GRCm39) |
T175A |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,996,229 (GRCm39) |
K221E |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,800,653 (GRCm39) |
K428E |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,739 (GRCm39) |
Y108* |
probably null |
Het |
| Wwox |
G |
A |
8: 115,406,614 (GRCm39) |
V202M |
probably benign |
Het |
|
| Other mutations in Sp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02103:Sp4
|
APN |
12 |
118,263,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02817:Sp4
|
APN |
12 |
118,263,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02833:Sp4
|
APN |
12 |
118,225,616 (GRCm39) |
missense |
probably benign |
0.05 |
|
Deadloss
|
UTSW |
12 |
118,218,174 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Speck
|
UTSW |
12 |
118,264,546 (GRCm39) |
splice site |
probably null |
|
|
R0128:Sp4
|
UTSW |
12 |
118,264,551 (GRCm39) |
splice site |
probably benign |
|
|
R0130:Sp4
|
UTSW |
12 |
118,264,551 (GRCm39) |
splice site |
probably benign |
|
|
R0398:Sp4
|
UTSW |
12 |
118,262,408 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0626:Sp4
|
UTSW |
12 |
118,263,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Sp4
|
UTSW |
12 |
118,263,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4724:Sp4
|
UTSW |
12 |
118,225,544 (GRCm39) |
missense |
probably benign |
|
|
R4861:Sp4
|
UTSW |
12 |
118,264,546 (GRCm39) |
splice site |
probably null |
|
|
R4861:Sp4
|
UTSW |
12 |
118,264,546 (GRCm39) |
splice site |
probably null |
|
|
R4969:Sp4
|
UTSW |
12 |
118,263,341 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5049:Sp4
|
UTSW |
12 |
118,218,207 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5178:Sp4
|
UTSW |
12 |
118,225,624 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5208:Sp4
|
UTSW |
12 |
118,263,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5722:Sp4
|
UTSW |
12 |
118,262,976 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6318:Sp4
|
UTSW |
12 |
118,201,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Sp4
|
UTSW |
12 |
118,263,077 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6917:Sp4
|
UTSW |
12 |
118,262,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7195:Sp4
|
UTSW |
12 |
118,263,807 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7614:Sp4
|
UTSW |
12 |
118,218,174 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7747:Sp4
|
UTSW |
12 |
118,218,139 (GRCm39) |
splice site |
probably null |
|
|
R7983:Sp4
|
UTSW |
12 |
118,264,967 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8709:Sp4
|
UTSW |
12 |
118,263,189 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8817:Sp4
|
UTSW |
12 |
118,225,624 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9436:Sp4
|
UTSW |
12 |
118,202,000 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9487:Sp4
|
UTSW |
12 |
118,262,859 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9595:Sp4
|
UTSW |
12 |
118,262,690 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1177:Sp4
|
UTSW |
12 |
118,263,794 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCCCTGACTGGAGCTGAAATG -3'
(R):5'- GACAGTGGGACTTCCAATGGGAATC -3'
Sequencing Primer
(F):5'- CTTGAATAATCTGCTGCTGAGGC -3'
(R):5'- GGAATCAGTTAGTTTCTACGCC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation