Incidental Mutation 'R1255:Spz1'
| ID |
151429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spz1
|
| Ensembl Gene |
ENSMUSG00000046957 |
| Gene Name |
spermatogenic leucine zipper 1 |
| Synonyms |
1700027M20Rik |
| MMRRC Submission |
039322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1255 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
92711144-92712680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 92712138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 113
(V113F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050658]
|
| AlphaFold |
Q99MY0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050658
AA Change: V113F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054083
Gene: ENSMUSG00000046957
AA Change: V113F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
182 |
223 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,807,016 (GRCm39) |
S21C |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acsf3 |
T |
C |
8: 123,512,705 (GRCm39) |
|
probably null |
Het |
| Aff3 |
A |
T |
1: 38,243,965 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
A |
T |
5: 98,123,231 (GRCm39) |
I272N |
probably benign |
Het |
| Asphd2 |
A |
C |
5: 112,539,677 (GRCm39) |
V52G |
probably damaging |
Het |
| Atxn3 |
T |
A |
12: 101,900,593 (GRCm39) |
Q230L |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,581,132 (GRCm39) |
I9T |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Ciz1 |
T |
A |
2: 32,255,888 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
A |
T |
6: 148,943,148 (GRCm39) |
M576K |
possibly damaging |
Het |
| Ebf3 |
C |
T |
7: 136,826,941 (GRCm39) |
V315I |
probably benign |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Gimap1 |
T |
A |
6: 48,719,940 (GRCm39) |
V184E |
probably benign |
Het |
| Gtf2f1 |
A |
G |
17: 57,317,982 (GRCm39) |
V18A |
probably damaging |
Het |
| Kcnn3 |
A |
T |
3: 89,559,416 (GRCm39) |
D562V |
possibly damaging |
Het |
| Kif20b |
A |
G |
19: 34,927,506 (GRCm39) |
T883A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,151 (GRCm39) |
L1198Q |
probably damaging |
Het |
| Nipal2 |
T |
C |
15: 34,584,828 (GRCm39) |
I247V |
probably benign |
Het |
| Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
| Rad51ap2 |
G |
T |
12: 11,508,095 (GRCm39) |
K672N |
possibly damaging |
Het |
| Rbm28 |
C |
T |
6: 29,158,246 (GRCm39) |
G155D |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,382,366 (GRCm39) |
M701K |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,260,974 (GRCm39) |
L142Q |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,569,275 (GRCm39) |
N207K |
probably benign |
Het |
| Son |
T |
A |
16: 91,461,583 (GRCm39) |
V205E |
probably damaging |
Het |
| Tcn2 |
T |
C |
11: 3,872,120 (GRCm39) |
T336A |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,538,044 (GRCm39) |
D1852G |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zfp729a |
T |
C |
13: 67,769,965 (GRCm39) |
E88G |
probably benign |
Het |
|
| Other mutations in Spz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01082:Spz1
|
APN |
13 |
92,712,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01473:Spz1
|
APN |
13 |
92,711,764 (GRCm39) |
nonsense |
probably null |
|
|
IGL01903:Spz1
|
APN |
13 |
92,711,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02312:Spz1
|
APN |
13 |
92,712,393 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02343:Spz1
|
APN |
13 |
92,712,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02969:Spz1
|
APN |
13 |
92,711,851 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1756:Spz1
|
UTSW |
13 |
92,711,633 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1992:Spz1
|
UTSW |
13 |
92,712,166 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3710:Spz1
|
UTSW |
13 |
92,711,631 (GRCm39) |
nonsense |
probably null |
|
|
R4431:Spz1
|
UTSW |
13 |
92,711,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Spz1
|
UTSW |
13 |
92,711,554 (GRCm39) |
nonsense |
probably null |
|
|
R5922:Spz1
|
UTSW |
13 |
92,712,106 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6724:Spz1
|
UTSW |
13 |
92,711,992 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7166:Spz1
|
UTSW |
13 |
92,712,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8145:Spz1
|
UTSW |
13 |
92,711,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8945:Spz1
|
UTSW |
13 |
92,711,499 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTACTCTCCGCGAAGGTGAAG -3'
(R):5'- GAAATCGGATCACTCCCCACTGTC -3'
Sequencing Primer
(F):5'- GGTCTTTTCACGCTCAGCAG -3'
(R):5'- ACCAAAGAATAGCATCTGTCCAGTAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation