Incidental Mutation 'R6695:Knstrn'
ID |
528526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Knstrn
|
Ensembl Gene |
ENSMUSG00000027331 |
Gene Name |
kinetochore-localized astrin/SPAG5 binding |
Synonyms |
D2Ertd750e, 1700025D04Rik |
MMRRC Submission |
044813-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6695 (G1)
|
Quality Score |
217.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118644470-118667691 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 118644723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 48
(A48T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115860
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028803]
[ENSMUST00000063975]
[ENSMUST00000110842]
[ENSMUST00000110846]
[ENSMUST00000123104]
[ENSMUST00000134661]
|
AlphaFold |
Q9D9Z1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028803
|
SMART Domains |
Protein: ENSMUSP00000028803 Gene: ENSMUSG00000027331
Domain | Start | End | E-Value | Type |
coiled coil region
|
118 |
159 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063975
|
SMART Domains |
Protein: ENSMUSP00000070031 Gene: ENSMUSG00000040035
Domain | Start | End | E-Value | Type |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110842
|
SMART Domains |
Protein: ENSMUSP00000106466 Gene: ENSMUSG00000027331
Domain | Start | End | E-Value | Type |
coiled coil region
|
91 |
132 |
N/A |
INTRINSIC |
coiled coil region
|
168 |
210 |
N/A |
INTRINSIC |
low complexity region
|
225 |
234 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110846
|
SMART Domains |
Protein: ENSMUSP00000106470 Gene: ENSMUSG00000040035
Domain | Start | End | E-Value | Type |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123104
|
SMART Domains |
Protein: ENSMUSP00000135422 Gene: ENSMUSG00000027331
Domain | Start | End | E-Value | Type |
coiled coil region
|
104 |
145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126045
|
SMART Domains |
Protein: ENSMUSP00000122844 Gene: ENSMUSG00000027331
Domain | Start | End | E-Value | Type |
coiled coil region
|
110 |
151 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000134579
AA Change: A4T
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134661
AA Change: A48T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000115860 Gene: ENSMUSG00000027331 AA Change: A48T
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
coiled coil region
|
169 |
210 |
N/A |
INTRINSIC |
coiled coil region
|
246 |
288 |
N/A |
INTRINSIC |
low complexity region
|
303 |
312 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000177103
AA Change: A4T
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (45/46) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display reduced fertility, decreased testis size, oligozoospermia, and defects in early spermatogenesis associated with abnormal spermatogonia proliferation and increased testis apoptosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd9 |
A |
T |
12: 110,943,497 (GRCm39) |
L179H |
probably benign |
Het |
Cacna1h |
C |
A |
17: 25,612,714 (GRCm39) |
A370S |
probably damaging |
Het |
Cc2d2a |
A |
T |
5: 43,876,019 (GRCm39) |
I1053F |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,721,230 (GRCm39) |
V1467A |
probably damaging |
Het |
Cyp4f15 |
T |
A |
17: 32,911,586 (GRCm39) |
L156* |
probably null |
Het |
Dmwd |
T |
A |
7: 18,814,652 (GRCm39) |
L434Q |
probably damaging |
Het |
Dtx4 |
T |
A |
19: 12,450,599 (GRCm39) |
R538* |
probably null |
Het |
Fcgbp |
T |
A |
7: 27,785,695 (GRCm39) |
C377* |
probably null |
Het |
Galntl6 |
G |
T |
8: 58,880,804 (GRCm39) |
H116Q |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,391,148 (GRCm39) |
|
probably null |
Het |
Hydin |
T |
G |
8: 111,053,092 (GRCm39) |
S255A |
probably benign |
Het |
Lonrf2 |
T |
C |
1: 38,852,470 (GRCm39) |
D127G |
probably benign |
Het |
Luzp1 |
T |
C |
4: 136,272,609 (GRCm39) |
S12P |
possibly damaging |
Het |
Man2c1 |
A |
T |
9: 57,048,875 (GRCm39) |
H822L |
probably benign |
Het |
Map3k13 |
G |
T |
16: 21,741,028 (GRCm39) |
G785V |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,219,366 (GRCm39) |
H454R |
probably damaging |
Het |
Mib2 |
G |
A |
4: 155,745,629 (GRCm39) |
R61C |
probably damaging |
Het |
Muc15 |
A |
T |
2: 110,561,616 (GRCm39) |
L17F |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,114,652 (GRCm39) |
I879V |
probably benign |
Het |
Nomo1 |
T |
A |
7: 45,715,885 (GRCm39) |
S751T |
probably benign |
Het |
Or1j10 |
A |
T |
2: 36,267,117 (GRCm39) |
S110C |
probably benign |
Het |
Or5b24 |
A |
T |
19: 12,912,764 (GRCm39) |
I221L |
possibly damaging |
Het |
Or5g27 |
A |
G |
2: 85,409,793 (GRCm39) |
D70G |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,278,256 (GRCm39) |
N412S |
probably benign |
Het |
Plk5 |
T |
C |
10: 80,196,035 (GRCm39) |
S235P |
probably benign |
Het |
Ppm1j |
A |
G |
3: 104,692,802 (GRCm39) |
D437G |
probably damaging |
Het |
Rab11fip1 |
T |
C |
8: 27,633,262 (GRCm39) |
E1148G |
probably damaging |
Het |
Rad9b |
T |
C |
5: 122,489,754 (GRCm39) |
N43S |
probably damaging |
Het |
Rc3h2 |
A |
C |
2: 37,304,673 (GRCm39) |
I29S |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
Stk32c |
A |
T |
7: 138,702,880 (GRCm39) |
V53E |
probably damaging |
Het |
Strc |
A |
T |
2: 121,207,705 (GRCm39) |
F555L |
probably benign |
Het |
Sugct |
T |
G |
13: 17,497,815 (GRCm39) |
N286T |
possibly damaging |
Het |
Swsap1 |
A |
T |
9: 21,867,971 (GRCm39) |
|
probably null |
Het |
Thbs2 |
T |
A |
17: 14,894,426 (GRCm39) |
D807V |
possibly damaging |
Het |
Tnrc6b |
A |
G |
15: 80,763,974 (GRCm39) |
D492G |
probably damaging |
Het |
Tonsl |
A |
T |
15: 76,514,018 (GRCm39) |
S1184T |
possibly damaging |
Het |
Tpp2 |
T |
A |
1: 44,022,436 (GRCm39) |
Y945N |
probably benign |
Het |
Usp54 |
G |
T |
14: 20,610,937 (GRCm39) |
A1293D |
possibly damaging |
Het |
Vps52 |
A |
T |
17: 34,182,173 (GRCm39) |
K516* |
probably null |
Het |
Zbtb17 |
T |
A |
4: 141,189,110 (GRCm39) |
V10D |
probably damaging |
Het |
Zfp607b |
T |
C |
7: 27,403,464 (GRCm39) |
V640A |
probably benign |
Het |
|
Other mutations in Knstrn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02370:Knstrn
|
APN |
2 |
118,654,269 (GRCm39) |
critical splice donor site |
probably null |
|
Lychee
|
UTSW |
2 |
118,661,461 (GRCm39) |
intron |
probably benign |
|
R0529:Knstrn
|
UTSW |
2 |
118,661,461 (GRCm39) |
intron |
probably benign |
|
R2202:Knstrn
|
UTSW |
2 |
118,661,456 (GRCm39) |
splice site |
probably null |
|
R2203:Knstrn
|
UTSW |
2 |
118,661,456 (GRCm39) |
splice site |
probably null |
|
R2204:Knstrn
|
UTSW |
2 |
118,661,456 (GRCm39) |
splice site |
probably null |
|
R2430:Knstrn
|
UTSW |
2 |
118,664,584 (GRCm39) |
utr 3 prime |
probably benign |
|
R4672:Knstrn
|
UTSW |
2 |
118,664,513 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4672:Knstrn
|
UTSW |
2 |
118,664,512 (GRCm39) |
missense |
probably damaging |
0.98 |
R5554:Knstrn
|
UTSW |
2 |
118,664,444 (GRCm39) |
intron |
probably benign |
|
R5954:Knstrn
|
UTSW |
2 |
118,661,436 (GRCm39) |
intron |
probably benign |
|
R6981:Knstrn
|
UTSW |
2 |
118,664,575 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7269:Knstrn
|
UTSW |
2 |
118,661,869 (GRCm39) |
splice site |
probably null |
|
R8829:Knstrn
|
UTSW |
2 |
118,654,222 (GRCm39) |
nonsense |
probably null |
|
R9448:Knstrn
|
UTSW |
2 |
118,644,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGCTCCATTCAAGCCAGC -3'
(R):5'- CTTAGCACTGGCCATCGTAG -3'
Sequencing Primer
(F):5'- TTCAAGCCAGCCCAGTGAGTC -3'
(R):5'- GCCATCGTAGCCGGGTG -3'
|
Posted On |
2018-07-24 |