Incidental Mutation 'IGL03395:Spef1l'
| ID |
421240 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spef1l
|
| Ensembl Gene |
ENSMUSG00000073795 |
| Gene Name |
sperm flagellar 1 like |
| Synonyms |
LOC381933, 6430531B16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL03395
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139552216-139558668 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 139556589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026546]
[ENSMUST00000097970]
[ENSMUST00000106069]
[ENSMUST00000121412]
[ENSMUST00000210254]
[ENSMUST00000209335]
|
| AlphaFold |
Q3V2J1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026546
|
| SMART Domains |
Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
151 |
5.9e-35 |
PFAM |
|
Pfam:Reprolysin_5
|
193 |
371 |
1e-22 |
PFAM |
|
Pfam:Reprolysin_4
|
193 |
384 |
1.7e-16 |
PFAM |
|
Pfam:Reprolysin
|
195 |
394 |
2.7e-70 |
PFAM |
|
Pfam:Reprolysin_2
|
214 |
384 |
1.6e-16 |
PFAM |
|
Pfam:Reprolysin_3
|
218 |
339 |
4.9e-21 |
PFAM |
|
DISIN
|
411 |
486 |
5.16e-36 |
SMART |
|
ACR
|
487 |
606 |
2.15e-35 |
SMART |
|
EGF
|
613 |
642 |
3.06e-1 |
SMART |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
812 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097970
|
| SMART Domains |
Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH_2
|
22 |
118 |
3e-35 |
PFAM |
|
Pfam:CAMSAP_CH
|
23 |
105 |
1.2e-21 |
PFAM |
|
coiled coil region
|
237 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106069
|
| SMART Domains |
Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
28 |
152 |
4e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
194 |
372 |
9.6e-23 |
PFAM |
|
Pfam:Reprolysin_4
|
194 |
385 |
1.6e-16 |
PFAM |
|
Pfam:Reprolysin
|
196 |
395 |
2.2e-73 |
PFAM |
|
Pfam:Reprolysin_2
|
215 |
385 |
2.9e-18 |
PFAM |
|
Pfam:Reprolysin_3
|
219 |
340 |
6.6e-21 |
PFAM |
|
DISIN
|
412 |
487 |
5.16e-36 |
SMART |
|
ACR
|
488 |
607 |
2.15e-35 |
SMART |
|
EGF
|
614 |
643 |
3.06e-1 |
SMART |
|
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
813 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121412
|
| SMART Domains |
Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1042
|
22 |
153 |
4.5e-35 |
PFAM |
|
Pfam:CAMSAP_CH
|
23 |
105 |
1.3e-20 |
PFAM |
|
low complexity region
|
230 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146974
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210254
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156647
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,663,746 (GRCm39) |
D308G |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,761,701 (GRCm39) |
I155F |
probably damaging |
Het |
| Ado |
T |
C |
10: 67,384,368 (GRCm39) |
Y79C |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,107,884 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,734 (GRCm39) |
D165E |
probably damaging |
Het |
| Ccdc124 |
A |
C |
8: 71,321,251 (GRCm39) |
M163R |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,304 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
A |
G |
17: 41,234,449 (GRCm39) |
L247P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,294,978 (GRCm39) |
V479A |
probably benign |
Het |
| Egfr |
T |
C |
11: 16,860,261 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,472,359 (GRCm39) |
Q352L |
probably damaging |
Het |
| Emc9 |
C |
T |
14: 55,822,197 (GRCm39) |
A72T |
probably benign |
Het |
| Fbxo5 |
G |
A |
10: 5,751,935 (GRCm39) |
S226F |
probably benign |
Het |
| Gm42688 |
A |
C |
6: 83,085,352 (GRCm39) |
E737D |
possibly damaging |
Het |
| Got1l1 |
G |
T |
8: 27,690,885 (GRCm39) |
H54Q |
probably benign |
Het |
| Grid2 |
G |
A |
6: 63,886,053 (GRCm39) |
V150I |
possibly damaging |
Het |
| Klc4 |
C |
T |
17: 46,943,789 (GRCm39) |
V506M |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,754,495 (GRCm39) |
N90S |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,681,617 (GRCm39) |
|
probably null |
Het |
| Mbd6 |
G |
A |
10: 127,119,286 (GRCm39) |
R950C |
probably damaging |
Het |
| Nol11 |
A |
G |
11: 107,066,548 (GRCm39) |
V414A |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,225,847 (GRCm39) |
M123K |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,272,325 (GRCm39) |
E177G |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,614,262 (GRCm39) |
D396E |
probably benign |
Het |
| Pcyt2 |
A |
T |
11: 120,503,876 (GRCm39) |
|
probably null |
Het |
| Pds5a |
T |
C |
5: 65,809,792 (GRCm39) |
D390G |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,224,999 (GRCm39) |
T155A |
probably benign |
Het |
| Rab31 |
T |
A |
17: 66,003,362 (GRCm39) |
H95L |
probably benign |
Het |
| Rfx5 |
C |
T |
3: 94,865,113 (GRCm39) |
R259* |
probably null |
Het |
| Slc6a17 |
T |
C |
3: 107,384,622 (GRCm39) |
D285G |
probably damaging |
Het |
| Spats2l |
A |
T |
1: 57,977,175 (GRCm39) |
I318F |
probably damaging |
Het |
| Tcf12 |
A |
G |
9: 71,783,304 (GRCm39) |
S361P |
probably damaging |
Het |
|
| Other mutations in Spef1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Spef1l
|
APN |
7 |
139,558,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01900:Spef1l
|
APN |
7 |
139,552,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Spef1l
|
UTSW |
7 |
139,557,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1121:Spef1l
|
UTSW |
7 |
139,556,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1474:Spef1l
|
UTSW |
7 |
139,556,555 (GRCm39) |
missense |
probably benign |
|
|
R1844:Spef1l
|
UTSW |
7 |
139,556,005 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2680:Spef1l
|
UTSW |
7 |
139,558,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3113:Spef1l
|
UTSW |
7 |
139,555,878 (GRCm39) |
splice site |
probably benign |
|
|
R4478:Spef1l
|
UTSW |
7 |
139,555,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4576:Spef1l
|
UTSW |
7 |
139,558,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Spef1l
|
UTSW |
7 |
139,558,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5037:Spef1l
|
UTSW |
7 |
139,558,587 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5935:Spef1l
|
UTSW |
7 |
139,556,526 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6314:Spef1l
|
UTSW |
7 |
139,556,402 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6361:Spef1l
|
UTSW |
7 |
139,556,585 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7326:Spef1l
|
UTSW |
7 |
139,558,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7386:Spef1l
|
UTSW |
7 |
139,555,965 (GRCm39) |
nonsense |
probably null |
|
|
R7658:Spef1l
|
UTSW |
7 |
139,556,531 (GRCm39) |
missense |
probably benign |
|
|
R8300:Spef1l
|
UTSW |
7 |
139,557,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Spef1l
|
UTSW |
7 |
139,556,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation