Incidental Mutation 'R1121:Spef1l'
| ID |
95636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spef1l
|
| Ensembl Gene |
ENSMUSG00000073795 |
| Gene Name |
sperm flagellar 1 like |
| Synonyms |
LOC381933, 6430531B16Rik |
| MMRRC Submission |
039194-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R1121 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139552216-139558668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139556543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 148
(D148V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026546]
[ENSMUST00000097970]
[ENSMUST00000106069]
[ENSMUST00000121412]
[ENSMUST00000209335]
[ENSMUST00000210254]
|
| 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
AA Change: D148V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795
AA Change: D148V
| 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
AA Change: D148V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795
AA Change: D148V
| 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 |
probably benign
Transcript: ENSMUST00000209335
AA Change: D148V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210254
AA Change: D148V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146974
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
A |
T |
6: 90,566,366 (GRCm39) |
I646L |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,690,822 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
A |
7: 81,113,943 (GRCm39) |
T815S |
unknown |
Het |
| Atosb |
T |
C |
4: 43,034,947 (GRCm39) |
K317E |
probably damaging |
Het |
| Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
| Dpysl2 |
C |
T |
14: 67,100,001 (GRCm39) |
M78I |
probably benign |
Het |
| Erc2 |
T |
C |
14: 28,197,612 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,063,913 (GRCm39) |
|
probably null |
Het |
| Fam98a |
C |
A |
17: 75,845,529 (GRCm39) |
G406C |
unknown |
Het |
| G6pc3 |
G |
A |
11: 102,080,768 (GRCm39) |
S6N |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,503,771 (GRCm39) |
M655L |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,440,332 (GRCm39) |
T308K |
possibly damaging |
Het |
| Ipp |
T |
A |
4: 116,377,872 (GRCm39) |
N247K |
probably benign |
Het |
| Islr |
T |
C |
9: 58,065,045 (GRCm39) |
N154S |
probably benign |
Het |
| Itk |
A |
G |
11: 46,222,721 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Micu1 |
C |
T |
10: 59,624,804 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or6d14 |
T |
G |
6: 116,534,190 (GRCm39) |
V268G |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,645 (GRCm39) |
Y584N |
probably damaging |
Het |
| Pnlip |
A |
G |
19: 58,669,340 (GRCm39) |
|
probably null |
Het |
| Ppip5k2 |
A |
T |
1: 97,684,585 (GRCm39) |
Y129N |
probably damaging |
Het |
| Prtg |
T |
G |
9: 72,813,449 (GRCm39) |
H936Q |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,899,871 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,216,975 (GRCm39) |
D243G |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,619,917 (GRCm39) |
M276K |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,647 (GRCm39) |
T181A |
probably benign |
Het |
| Vwa7 |
T |
A |
17: 35,236,770 (GRCm39) |
N112K |
probably damaging |
Het |
| Xkr7 |
C |
T |
2: 152,896,343 (GRCm39) |
T399I |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,930,248 (GRCm39) |
D19G |
probably benign |
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 |
|
IGL03395:Spef1l
|
APN |
7 |
139,556,589 (GRCm39) |
splice site |
probably benign |
|
|
R0562:Spef1l
|
UTSW |
7 |
139,557,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTATGCCTTCCTCAGGAGCCCAC -3'
(R):5'- GCCCTTTGCACTCAGTCAGACAATC -3'
Sequencing Primer
(F):5'- GAGCCCACTAGCCTCTCTG -3'
(R):5'- TAACCCCACCCAGAGTTTGT -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation