Incidental Mutation 'R7074:Spag5'
| ID |
549111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag5
|
| Ensembl Gene |
ENSMUSG00000002055 |
| Gene Name |
sperm associated antigen 5 |
| Synonyms |
s17, Astrin, Mastrin, MAP126, Deepest, D11Bhm180e, S17 |
| MMRRC Submission |
045242-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7074 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78192412-78213283 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 78195868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045026]
|
| AlphaFold |
Q7TME2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045026
|
| SMART Domains |
Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
405 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
493 |
N/A |
INTRINSIC |
|
coiled coil region
|
514 |
547 |
N/A |
INTRINSIC |
|
coiled coil region
|
638 |
700 |
N/A |
INTRINSIC |
|
coiled coil region
|
743 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
912 |
N/A |
INTRINSIC |
|
coiled coil region
|
970 |
1006 |
N/A |
INTRINSIC |
|
coiled coil region
|
1032 |
1068 |
N/A |
INTRINSIC |
|
coiled coil region
|
1104 |
1140 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile with normal breeding and mating behavio; no abnormalities in male reproductive system anatomy or histology or in spermatogenesis were detectable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,340,433 (GRCm39) |
I53L |
probably benign |
Het |
| Acss2 |
T |
C |
2: 155,363,961 (GRCm39) |
L80P |
possibly damaging |
Het |
| Adam3 |
A |
T |
8: 25,184,363 (GRCm39) |
F546I |
probably benign |
Het |
| Adtrp |
A |
T |
13: 41,981,617 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
G |
T |
2: 128,520,194 (GRCm39) |
P208T |
probably damaging |
Het |
| Ankrd33 |
A |
G |
15: 101,017,430 (GRCm39) |
K281R |
probably benign |
Het |
| Bcl11b |
A |
G |
12: 107,955,766 (GRCm39) |
S128P |
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,794,200 (GRCm39) |
K265E |
possibly damaging |
Het |
| Cep72 |
A |
G |
13: 74,199,699 (GRCm39) |
C244R |
probably benign |
Het |
| Cope |
A |
G |
8: 70,765,537 (GRCm39) |
Q303R |
probably benign |
Het |
| Cpd |
T |
A |
11: 76,704,420 (GRCm39) |
N398I |
probably damaging |
Het |
| Cplx1 |
C |
T |
5: 108,696,393 (GRCm39) |
|
probably null |
Het |
| Dixdc1 |
T |
A |
9: 50,601,214 (GRCm39) |
E344D |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,833,445 (GRCm39) |
F1951I |
unknown |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Faap24 |
A |
T |
7: 35,094,527 (GRCm39) |
I91K |
possibly damaging |
Het |
| Fubp3 |
T |
C |
2: 31,485,306 (GRCm39) |
S107P |
probably damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,313,893 (GRCm39) |
Q473L |
probably benign |
Het |
| Ghr |
A |
T |
15: 3,362,873 (GRCm39) |
Y200N |
probably damaging |
Het |
| Gm4950 |
G |
A |
18: 51,998,521 (GRCm39) |
Q145* |
probably null |
Het |
| Gm826 |
C |
T |
2: 160,153,810 (GRCm39) |
V78I |
unknown |
Het |
| Gnas |
G |
A |
2: 174,126,842 (GRCm39) |
E126K |
probably damaging |
Het |
| Grip2 |
A |
T |
6: 91,761,689 (GRCm39) |
V235E |
probably benign |
Het |
| Hmgcl |
A |
G |
4: 135,681,178 (GRCm39) |
H88R |
probably benign |
Het |
| Htr7 |
A |
G |
19: 36,034,283 (GRCm39) |
V124A |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,933,003 (GRCm39) |
I840F |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,204,574 (GRCm39) |
I961V |
possibly damaging |
Het |
| Jmy |
A |
T |
13: 93,590,439 (GRCm39) |
S555T |
probably benign |
Het |
| Klk1b27 |
G |
A |
7: 43,705,977 (GRCm39) |
G227S |
probably damaging |
Het |
| Lao1 |
A |
C |
4: 118,825,382 (GRCm39) |
T401P |
probably damaging |
Het |
| Lrwd1 |
C |
T |
5: 136,152,511 (GRCm39) |
V547I |
probably benign |
Het |
| Mttp |
C |
A |
3: 137,813,034 (GRCm39) |
R532L |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,566,946 (GRCm39) |
T1858A |
unknown |
Het |
| Myo18a |
T |
A |
11: 77,733,387 (GRCm39) |
D1409E |
probably benign |
Het |
| Ncor2 |
T |
A |
5: 125,126,430 (GRCm39) |
R554* |
probably null |
Het |
| Or14j6 |
T |
A |
17: 38,214,718 (GRCm39) |
Y94N |
possibly damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,975 (GRCm39) |
H153L |
probably benign |
Het |
| Or2b11 |
T |
C |
11: 59,461,835 (GRCm39) |
T244A |
probably damaging |
Het |
| Or2l13b |
T |
A |
16: 19,348,855 (GRCm39) |
I272F |
possibly damaging |
Het |
| Or52b1 |
A |
G |
7: 104,978,475 (GRCm39) |
M308T |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,022,147 (GRCm39) |
Y213H |
probably damaging |
Het |
| Prkd3 |
T |
A |
17: 79,282,236 (GRCm39) |
K306* |
probably null |
Het |
| Psd2 |
A |
G |
18: 36,143,737 (GRCm39) |
E681G |
probably benign |
Het |
| Sel1l2 |
T |
A |
2: 140,105,362 (GRCm39) |
N276I |
probably damaging |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| Smyd1 |
A |
G |
6: 71,214,359 (GRCm39) |
V214A |
probably damaging |
Het |
| Trem3 |
C |
T |
17: 48,556,909 (GRCm39) |
R127W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,748,425 (GRCm39) |
T4208I |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 89,004,839 (GRCm39) |
F260S |
probably damaging |
Het |
| Vmn1r51 |
A |
T |
6: 90,106,654 (GRCm39) |
D190V |
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,724,859 (GRCm39) |
I174V |
possibly damaging |
Het |
| Zfp423 |
G |
A |
8: 88,509,060 (GRCm39) |
T428I |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,030,454 (GRCm39) |
N1162I |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,042,255 (GRCm39) |
M8V |
probably benign |
Het |
|
| Other mutations in Spag5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Spag5
|
APN |
11 |
78,195,443 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01820:Spag5
|
APN |
11 |
78,195,085 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02066:Spag5
|
APN |
11 |
78,195,358 (GRCm39) |
missense |
probably benign |
|
|
IGL02140:Spag5
|
APN |
11 |
78,206,459 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02251:Spag5
|
APN |
11 |
78,210,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Spag5
|
APN |
11 |
78,195,449 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02658:Spag5
|
APN |
11 |
78,212,157 (GRCm39) |
nonsense |
probably null |
|
|
boyardee
|
UTSW |
11 |
78,204,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
Franco
|
UTSW |
11 |
78,205,008 (GRCm39) |
nonsense |
probably null |
|
|
spaghetto
|
UTSW |
11 |
78,204,205 (GRCm39) |
nonsense |
probably null |
|
|
IGL02991:Spag5
|
UTSW |
11 |
78,205,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0477:Spag5
|
UTSW |
11 |
78,205,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Spag5
|
UTSW |
11 |
78,210,412 (GRCm39) |
unclassified |
probably benign |
|
|
R0535:Spag5
|
UTSW |
11 |
78,195,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0557:Spag5
|
UTSW |
11 |
78,205,037 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0584:Spag5
|
UTSW |
11 |
78,194,921 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0666:Spag5
|
UTSW |
11 |
78,204,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Spag5
|
UTSW |
11 |
78,210,410 (GRCm39) |
unclassified |
probably benign |
|
|
R1413:Spag5
|
UTSW |
11 |
78,196,143 (GRCm39) |
nonsense |
probably null |
|
|
R1680:Spag5
|
UTSW |
11 |
78,211,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Spag5
|
UTSW |
11 |
78,195,755 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1696:Spag5
|
UTSW |
11 |
78,212,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Spag5
|
UTSW |
11 |
78,205,082 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1866:Spag5
|
UTSW |
11 |
78,195,281 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1918:Spag5
|
UTSW |
11 |
78,195,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4004:Spag5
|
UTSW |
11 |
78,212,355 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4005:Spag5
|
UTSW |
11 |
78,212,355 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4222:Spag5
|
UTSW |
11 |
78,195,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Spag5
|
UTSW |
11 |
78,210,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4771:Spag5
|
UTSW |
11 |
78,195,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Spag5
|
UTSW |
11 |
78,205,199 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5360:Spag5
|
UTSW |
11 |
78,205,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5366:Spag5
|
UTSW |
11 |
78,211,152 (GRCm39) |
splice site |
probably null |
|
|
R5618:Spag5
|
UTSW |
11 |
78,194,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5668:Spag5
|
UTSW |
11 |
78,195,542 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5762:Spag5
|
UTSW |
11 |
78,194,972 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5859:Spag5
|
UTSW |
11 |
78,204,360 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6564:Spag5
|
UTSW |
11 |
78,206,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6571:Spag5
|
UTSW |
11 |
78,212,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6573:Spag5
|
UTSW |
11 |
78,205,008 (GRCm39) |
nonsense |
probably null |
|
|
R7091:Spag5
|
UTSW |
11 |
78,204,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7332:Spag5
|
UTSW |
11 |
78,204,205 (GRCm39) |
nonsense |
probably null |
|
|
R8073:Spag5
|
UTSW |
11 |
78,192,803 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8709:Spag5
|
UTSW |
11 |
78,192,738 (GRCm39) |
missense |
probably benign |
|
|
R8723:Spag5
|
UTSW |
11 |
78,212,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8976:Spag5
|
UTSW |
11 |
78,195,413 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9053:Spag5
|
UTSW |
11 |
78,212,575 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9142:Spag5
|
UTSW |
11 |
78,192,823 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1176:Spag5
|
UTSW |
11 |
78,205,808 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGGATGTCCCCATTGGC -3'
(R):5'- TCCAGCAAGACAAGAGAGTTC -3'
Sequencing Primer
(F):5'- GTGTGAATACATCGGTCATGCTAC -3'
(R):5'- CAAGAGAGTTCAACAGGTTCTCTTCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation