Incidental Mutation 'IGL01620:Mns1'
| ID |
92555 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mns1
|
| Ensembl Gene |
ENSMUSG00000032221 |
| Gene Name |
meiosis-specific nuclear structural protein 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL01620
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
72345276-72366036 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 72364195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034746]
[ENSMUST00000085358]
[ENSMUST00000183574]
[ENSMUST00000183856]
[ENSMUST00000184125]
[ENSMUST00000184312]
[ENSMUST00000184831]
[ENSMUST00000184557]
[ENSMUST00000184604]
|
| AlphaFold |
Q61884 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034746
|
| SMART Domains |
Protein: ENSMUSP00000034746
Gene: ENSMUSG00000032221
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPH
|
117 |
462 |
3.1e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085358
|
| SMART Domains |
Protein: ENSMUSP00000082467
Gene: ENSMUSG00000090626
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
186 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183399
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183574
|
| SMART Domains |
Protein: ENSMUSP00000139386
Gene: ENSMUSG00000090626
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
186 |
208 |
N/A |
INTRINSIC |
|
coiled coil region
|
231 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183856
|
| SMART Domains |
Protein: ENSMUSP00000139247
Gene: ENSMUSG00000090626
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
186 |
328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184125
|
| SMART Domains |
Protein: ENSMUSP00000139026
Gene: ENSMUSG00000090626
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
186 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184312
|
| SMART Domains |
Protein: ENSMUSP00000138844
Gene: ENSMUSG00000090626
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184831
|
| SMART Domains |
Protein: ENSMUSP00000138999
Gene: ENSMUSG00000090626
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184557
|
| SMART Domains |
Protein: ENSMUSP00000139212
Gene: ENSMUSG00000090626
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
63 |
N/A |
INTRINSIC |
|
coiled coil region
|
186 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184604
|
| SMART Domains |
Protein: ENSMUSP00000139232
Gene: ENSMUSG00000032221
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trichoplein
|
116 |
158 |
8e-12 |
PFAM |
|
Pfam:Trichoplein
|
150 |
206 |
1.4e-9 |
PFAM |
|
| Coding Region Coverage |
|
| 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 highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null mutation display partial lethality, male infertility, sperm flagellum abnormalities, immotile sperm, randomized left-right patterning, hydroencephaly, and motile cilia abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,385 (GRCm39) |
V277D |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,010,218 (GRCm39) |
V325D |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,741,757 (GRCm39) |
|
probably null |
Het |
| Ano9 |
A |
G |
7: 140,690,352 (GRCm39) |
L94P |
probably damaging |
Het |
| Atad3a |
G |
T |
4: 155,830,535 (GRCm39) |
T521K |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,504,948 (GRCm39) |
K126E |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,220,713 (GRCm39) |
|
probably benign |
Het |
| Btbd17 |
T |
C |
11: 114,686,599 (GRCm39) |
T26A |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,587,461 (GRCm39) |
S314L |
probably benign |
Het |
| Ccl8 |
A |
T |
11: 82,007,435 (GRCm39) |
Q90L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,078,257 (GRCm39) |
V355A |
probably damaging |
Het |
| Col17a1 |
A |
G |
19: 47,656,978 (GRCm39) |
I555T |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,815,159 (GRCm39) |
|
probably null |
Het |
| Dtna |
T |
C |
18: 23,758,144 (GRCm39) |
I483T |
probably damaging |
Het |
| Eloc |
T |
A |
1: 16,713,502 (GRCm39) |
|
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,295,119 (GRCm39) |
L177H |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,275,831 (GRCm39) |
K352I |
probably damaging |
Het |
| Ermn |
T |
C |
2: 57,942,502 (GRCm39) |
E76G |
probably benign |
Het |
| Flot1 |
A |
T |
17: 36,140,763 (GRCm39) |
E203V |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,529 (GRCm39) |
K266R |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,476,901 (GRCm39) |
K154M |
probably damaging |
Het |
| Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
| Kash5 |
T |
C |
7: 44,839,384 (GRCm39) |
D359G |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 47,018,296 (GRCm39) |
K53R |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,232,772 (GRCm39) |
H168Q |
probably damaging |
Het |
| Lpcat2b |
T |
C |
5: 107,581,759 (GRCm39) |
Y363H |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,488,225 (GRCm39) |
N290K |
probably damaging |
Het |
| Map2k3 |
T |
C |
11: 60,840,873 (GRCm39) |
F301L |
possibly damaging |
Het |
| Nos1 |
A |
G |
5: 118,043,374 (GRCm39) |
|
probably null |
Het |
| Or1j17 |
T |
A |
2: 36,578,550 (GRCm39) |
C179S |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,220 (GRCm39) |
V264D |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,237,844 (GRCm39) |
H1374Q |
possibly damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,822,728 (GRCm39) |
A658V |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,307,726 (GRCm39) |
F14I |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 137,996,148 (GRCm39) |
E904K |
possibly damaging |
Het |
| Rab11fip4 |
G |
T |
11: 79,582,705 (GRCm39) |
D591Y |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,523 (GRCm39) |
T29A |
probably benign |
Het |
| Rgs19 |
A |
G |
2: 181,331,381 (GRCm39) |
V84A |
possibly damaging |
Het |
| Shisa6 |
T |
G |
11: 66,108,705 (GRCm39) |
M391L |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,469,263 (GRCm39) |
G1254D |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,895,059 (GRCm39) |
Y358* |
probably null |
Het |
| Taf3 |
G |
T |
2: 9,957,472 (GRCm39) |
R232S |
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,035,338 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Trav13n-4 |
T |
C |
14: 53,601,473 (GRCm39) |
S81P |
probably damaging |
Het |
| Trim30d |
G |
T |
7: 104,121,333 (GRCm39) |
P321T |
possibly damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,763,039 (GRCm39) |
G309* |
probably null |
Het |
| Vps13d |
C |
A |
4: 144,821,437 (GRCm39) |
G2979V |
possibly damaging |
Het |
|
| Other mutations in Mns1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0390:Mns1
|
UTSW |
9 |
72,360,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Mns1
|
UTSW |
9 |
72,356,753 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1803:Mns1
|
UTSW |
9 |
72,360,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Mns1
|
UTSW |
9 |
72,356,041 (GRCm39) |
splice site |
probably null |
|
|
R3821:Mns1
|
UTSW |
9 |
72,346,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3822:Mns1
|
UTSW |
9 |
72,346,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4640:Mns1
|
UTSW |
9 |
72,346,564 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6051:Mns1
|
UTSW |
9 |
72,356,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6696:Mns1
|
UTSW |
9 |
72,360,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Mns1
|
UTSW |
9 |
72,360,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Mns1
|
UTSW |
9 |
72,360,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Mns1
|
UTSW |
9 |
72,356,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Mns1
|
UTSW |
9 |
72,360,093 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8068:Mns1
|
UTSW |
9 |
72,355,809 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9275:Mns1
|
UTSW |
9 |
72,356,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9450:Mns1
|
UTSW |
9 |
72,359,890 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9786:Mns1
|
UTSW |
9 |
72,346,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation