Incidental Mutation 'IGL03147:Speer4c1'
| ID |
453109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Speer4c1
|
| Ensembl Gene |
ENSMUSG00000073208 |
| Gene Name |
spermatogenesis associated glutamate (E)-rich protein 4C1 |
| Synonyms |
Speer4c, SPEER-4C, 4933431D05Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.413)
|
| Stock # |
IGL03147 (G1)
|
| Quality Score |
114 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
15914499-15919269 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to C
at 15919214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095005]
[ENSMUST00000179506]
|
| AlphaFold |
G3UXD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095005
|
| SMART Domains |
Protein: ENSMUSP00000133641
Gene: ENSMUSG00000073208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
50 |
134 |
1.1e-30 |
PFAM |
|
low complexity region
|
248 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162113
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179506
|
| SMART Domains |
Protein: ENSMUSP00000136269
Gene: ENSMUSG00000073208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
49 |
135 |
2.8e-25 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
91% (39/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Acan |
A |
G |
7: 78,740,804 (GRCm39) |
E390G |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,527,763 (GRCm39) |
S552P |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
| Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Deup1 |
A |
T |
9: 15,521,910 (GRCm39) |
M85K |
probably damaging |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,716,354 (GRCm39) |
Y157C |
probably damaging |
Het |
| Ext1 |
T |
A |
15: 52,951,468 (GRCm39) |
I539F |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,748,917 (GRCm39) |
V1849A |
possibly damaging |
Het |
| Gpr161 |
A |
G |
1: 165,144,877 (GRCm39) |
T389A |
probably benign |
Het |
| Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
| Mir205hg |
T |
A |
1: 193,189,768 (GRCm39) |
|
noncoding transcript |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,309,342 (GRCm39) |
Y1318F |
probably damaging |
Het |
| Or4c120 |
A |
G |
2: 89,001,316 (GRCm39) |
M80T |
probably benign |
Het |
| Pml |
T |
C |
9: 58,137,326 (GRCm39) |
H491R |
possibly damaging |
Het |
| Rbmxl2 |
T |
G |
7: 106,808,858 (GRCm39) |
S48A |
probably benign |
Het |
| Rgs6 |
A |
G |
12: 83,138,620 (GRCm39) |
D318G |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,302,286 (GRCm39) |
|
probably benign |
Het |
| Sfi1 |
G |
A |
11: 3,136,080 (GRCm39) |
T84I |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,773,519 (GRCm39) |
M275V |
possibly damaging |
Het |
| Sp110 |
GC |
GCC |
1: 85,519,288 (GRCm39) |
|
probably null |
Het |
| Specc1 |
T |
C |
11: 62,009,108 (GRCm39) |
V288A |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,732,377 (GRCm39) |
V118I |
probably damaging |
Het |
| St8sia2 |
C |
A |
7: 73,616,567 (GRCm39) |
C136F |
probably damaging |
Het |
| Stmn3 |
A |
T |
2: 180,950,993 (GRCm39) |
I21N |
possibly damaging |
Het |
| Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,542,311 (GRCm39) |
K25231N |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Vmn1r11 |
A |
T |
6: 57,114,650 (GRCm39) |
I68F |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,140,638 (GRCm39) |
Y228* |
probably null |
Het |
|
| Other mutations in Speer4c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02796:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02799:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02802:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02837:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02984:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02988:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02991:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03014:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03046:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03047:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03050:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03055:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03097:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03098:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03134:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03138:Speer4c1
|
UTSW |
5 |
15,919,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2122:Speer4c1
|
UTSW |
5 |
15,919,115 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7176:Speer4c1
|
UTSW |
5 |
15,916,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7849:Speer4c1
|
UTSW |
5 |
15,915,925 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8996:Speer4c1
|
UTSW |
5 |
15,915,886 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9747:Speer4c1
|
UTSW |
5 |
15,916,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACATTACTGGAAAGGCC -3'
(R):5'- GCTCAGCTTCCTGTCAGTAC -3'
Sequencing Primer
(F):5'- TTACTGGAAAGGCCACCTCAGG -3'
(R):5'- TGTCAGTACAGGGAGAACATTAGC -3'
|
| Posted On |
2017-01-27 |
Incidental Mutation