Incidental Mutation 'R0723:Spag5'
| ID |
218684 |
| 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 |
038905-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0723 (G1)
|
| Quality Score |
57 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78192412-78213283 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 78210410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017534]
[ENSMUST00000045026]
[ENSMUST00000102478]
|
| AlphaFold |
Q7TME2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017534
|
| SMART Domains |
Protein: ENSMUSP00000017534
Gene: ENSMUSG00000017390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycolytic
|
15 |
363 |
2.6e-185 |
PFAM |
|
| Predicted Effect |
probably benign
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102478
|
| SMART Domains |
Protein: ENSMUSP00000099536
Gene: ENSMUSG00000017390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycolytic
|
15 |
363 |
5.5e-179 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128359
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146068
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
99% (69/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Acbd5 |
T |
G |
2: 22,959,608 (GRCm39) |
V54G |
probably damaging |
Het |
| Acin1 |
A |
T |
14: 54,902,908 (GRCm39) |
S255T |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 69,147,248 (GRCm39) |
L56P |
probably damaging |
Het |
| Akap6 |
G |
T |
12: 53,188,685 (GRCm39) |
C2033F |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,237,506 (GRCm39) |
I777V |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,075,987 (GRCm39) |
V1349A |
probably benign |
Het |
| Atosa |
G |
A |
9: 74,916,733 (GRCm39) |
G444E |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,760,164 (GRCm39) |
|
probably null |
Het |
| C2cd5 |
T |
C |
6: 142,987,281 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,287,697 (GRCm39) |
V1161A |
probably damaging |
Het |
| Car8 |
A |
T |
4: 8,169,703 (GRCm39) |
D268E |
probably benign |
Het |
| Ciao3 |
G |
A |
17: 26,000,795 (GRCm39) |
V406M |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,385,676 (GRCm39) |
S175T |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,166,320 (GRCm39) |
Y67* |
probably null |
Het |
| Copg2 |
T |
C |
6: 30,792,917 (GRCm39) |
I473V |
possibly damaging |
Het |
| Cstdc1 |
T |
C |
2: 148,625,282 (GRCm39) |
I72T |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,508,973 (GRCm39) |
V43I |
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,761,703 (GRCm39) |
D493G |
probably benign |
Het |
| Efemp2 |
T |
C |
19: 5,530,078 (GRCm39) |
S140P |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,479,786 (GRCm39) |
T2944K |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,047,784 (GRCm39) |
D43E |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,419,825 (GRCm39) |
A996T |
probably damaging |
Het |
| Fyb2 |
G |
A |
4: 104,873,063 (GRCm39) |
V784I |
probably benign |
Het |
| Gm6507 |
T |
A |
6: 89,162,144 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
C |
7: 83,405,374 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2c |
T |
C |
6: 136,704,799 (GRCm39) |
|
probably null |
Het |
| Hdac10 |
A |
T |
15: 89,010,621 (GRCm39) |
L259Q |
probably damaging |
Het |
| Hoxd9 |
A |
T |
2: 74,529,172 (GRCm39) |
D258V |
probably damaging |
Het |
| Hs3st3b1 |
T |
C |
11: 63,812,401 (GRCm39) |
T105A |
probably benign |
Het |
| Hsd17b7 |
A |
G |
1: 169,783,595 (GRCm39) |
L271P |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,524 (GRCm39) |
|
probably benign |
Het |
| Kif22 |
A |
T |
7: 126,633,078 (GRCm39) |
M121K |
probably damaging |
Het |
| Kl |
G |
A |
5: 150,876,566 (GRCm39) |
D129N |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,361,999 (GRCm39) |
I648N |
probably damaging |
Het |
| Mlh1 |
C |
T |
9: 111,100,540 (GRCm39) |
R18H |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,247,473 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,369,803 (GRCm39) |
N854K |
possibly damaging |
Het |
| Myo1h |
T |
C |
5: 114,457,741 (GRCm39) |
I84T |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,778,383 (GRCm39) |
S1380C |
probably benign |
Het |
| Myof |
A |
G |
19: 37,969,708 (GRCm39) |
V318A |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,585,897 (GRCm39) |
S28P |
probably damaging |
Het |
| Nbr1 |
C |
T |
11: 101,467,145 (GRCm39) |
Q570* |
probably null |
Het |
| Nhp2 |
C |
T |
11: 51,510,750 (GRCm39) |
Q36* |
probably null |
Het |
| Or1e17 |
T |
G |
11: 73,831,096 (GRCm39) |
V8G |
probably benign |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,965,457 (GRCm39) |
W129R |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,146,936 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
C |
T |
3: 78,986,481 (GRCm39) |
E1018K |
probably benign |
Het |
| Rgs12 |
T |
C |
5: 35,181,710 (GRCm39) |
|
probably benign |
Het |
| Rufy2 |
G |
A |
10: 62,833,873 (GRCm39) |
V280I |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
| Spata31g1 |
T |
A |
4: 42,971,691 (GRCm39) |
N341K |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,644,617 (GRCm39) |
I961N |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,173,045 (GRCm39) |
E1739G |
probably benign |
Het |
| Tmod2 |
A |
G |
9: 75,502,337 (GRCm39) |
F50S |
possibly damaging |
Het |
| Tnfsf13b |
T |
G |
8: 10,057,166 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,616,679 (GRCm39) |
K16525E |
possibly damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,259,629 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,711,582 (GRCm39) |
Y1437* |
probably null |
Het |
| Vwf |
C |
A |
6: 125,543,225 (GRCm39) |
D170E |
probably benign |
Het |
| Wdr95 |
C |
G |
5: 149,497,513 (GRCm39) |
I230M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,342,559 (GRCm39) |
S1600F |
probably damaging |
Het |
| Zfp12 |
A |
G |
5: 143,230,638 (GRCm39) |
K322E |
probably damaging |
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 |
|
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 |
|
|
R7074:Spag5
|
UTSW |
11 |
78,195,868 (GRCm39) |
critical splice donor site |
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'- CACCCTGGAAGGACAATTCAGAGC -3'
(R):5'- TTCCAAGCAATGGCACAGGAGC -3'
Sequencing Primer
(F):5'- TGATCTAAAGTTGTAAAGTACAGCGG -3'
(R):5'- caccagaagagggcatcag -3'
|
| Posted On |
2014-08-19 |
Incidental Mutation