Incidental Mutation 'IGL01935:Gm10717'
ID |
279157 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm10717
|
Ensembl Gene |
ENSMUSG00000095891 |
Gene Name |
predicted gene 10717 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.810)
|
Stock # |
IGL01935
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
3025417-3033289 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3025616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 67
(S67L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075573]
[ENSMUST00000099042]
[ENSMUST00000099046]
[ENSMUST00000099047]
[ENSMUST00000099051]
[ENSMUST00000177601]
[ENSMUST00000177875]
[ENSMUST00000179264]
[ENSMUST00000179272]
[ENSMUST00000179982]
|
AlphaFold |
D3Z1I8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075573
AA Change: S67L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000096644 Gene: ENSMUSG00000095891 AA Change: S67L
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
41 |
1.06e-10 |
PROSPERO |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
177 |
1.06e-10 |
PROSPERO |
transmembrane domain
|
200 |
222 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099042
|
SMART Domains |
Protein: ENSMUSP00000096640 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
47 |
9.09e-8 |
PROSPERO |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
164 |
9.09e-8 |
PROSPERO |
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099046
|
SMART Domains |
Protein: ENSMUSP00000096645 Gene: ENSMUSG00000095186
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
41 |
4.44e-7 |
PROSPERO |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
177 |
4.44e-7 |
PROSPERO |
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099047
|
SMART Domains |
Protein: ENSMUSP00000096646 Gene: ENSMUSG00000095547
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
40 |
1.58e-10 |
PROSPERO |
transmembrane domain
|
53 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
176 |
1.58e-10 |
PROSPERO |
transmembrane domain
|
199 |
221 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099051
|
SMART Domains |
Protein: ENSMUSP00000096650 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
2 |
38 |
6.22e-5 |
PROSPERO |
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
transmembrane domain
|
90 |
109 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
174 |
6.22e-5 |
PROSPERO |
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177601
|
SMART Domains |
Protein: ENSMUSP00000136755 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
1 |
24 |
2.26e-6 |
PROSPERO |
internal_repeat_1
|
2 |
37 |
2.26e-6 |
PROSPERO |
internal_repeat_1
|
40 |
95 |
2.26e-6 |
PROSPERO |
internal_repeat_2
|
118 |
142 |
2.26e-6 |
PROSPERO |
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
low complexity region
|
169 |
183 |
N/A |
INTRINSIC |
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177875
|
SMART Domains |
Protein: ENSMUSP00000137419 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
49 |
1.49e-11 |
PROSPERO |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
186 |
1.49e-11 |
PROSPERO |
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179264
|
SMART Domains |
Protein: ENSMUSP00000137451 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
43 |
5.09e-6 |
PROSPERO |
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
179 |
5.09e-6 |
PROSPERO |
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179272
|
SMART Domains |
Protein: ENSMUSP00000136170 Gene: ENSMUSG00000095547
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
49 |
2.1e-10 |
PROSPERO |
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
internal_repeat_1
|
118 |
186 |
2.1e-10 |
PROSPERO |
transmembrane domain
|
198 |
217 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179982
|
SMART Domains |
Protein: ENSMUSP00000136365 Gene: ENSMUSG00000095891
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
35 |
7.76e-13 |
PROSPERO |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
internal_repeat_1
|
117 |
152 |
7.76e-13 |
PROSPERO |
low complexity region
|
157 |
169 |
N/A |
INTRINSIC |
transmembrane domain
|
198 |
220 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp2 |
C |
T |
6: 140,583,383 (GRCm39) |
|
probably benign |
Het |
Akr1c12 |
A |
T |
13: 4,322,244 (GRCm39) |
V266E |
probably damaging |
Het |
Arhgef1 |
A |
G |
7: 24,621,307 (GRCm39) |
T186A |
probably damaging |
Het |
Atp8b5 |
A |
G |
4: 43,366,638 (GRCm39) |
T801A |
probably benign |
Het |
Card11 |
T |
A |
5: 140,869,301 (GRCm39) |
I832F |
possibly damaging |
Het |
Catsperg1 |
T |
C |
7: 28,895,296 (GRCm39) |
|
probably null |
Het |
Ccdc180 |
A |
G |
4: 45,906,889 (GRCm39) |
T455A |
possibly damaging |
Het |
Cfhr1 |
T |
A |
1: 139,478,740 (GRCm39) |
Y210F |
probably benign |
Het |
Chrna5 |
T |
C |
9: 54,912,127 (GRCm39) |
V309A |
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,345,521 (GRCm39) |
V609A |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,037,126 (GRCm39) |
D3372G |
probably benign |
Het |
Dtymk |
T |
C |
1: 93,722,465 (GRCm39) |
K113E |
probably benign |
Het |
Eef2k |
T |
C |
7: 120,485,054 (GRCm39) |
F307S |
probably damaging |
Het |
Flnc |
T |
A |
6: 29,454,279 (GRCm39) |
V1864E |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,803,541 (GRCm39) |
Y2192C |
probably benign |
Het |
Hkdc1 |
A |
T |
10: 62,236,165 (GRCm39) |
V459E |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,360,951 (GRCm39) |
D969G |
probably damaging |
Het |
Irf3 |
A |
G |
7: 44,650,194 (GRCm39) |
T237A |
probably benign |
Het |
Jade2 |
G |
A |
11: 51,719,211 (GRCm39) |
T245I |
possibly damaging |
Het |
Kctd8 |
A |
G |
5: 69,497,707 (GRCm39) |
I313T |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,385,284 (GRCm39) |
S835R |
probably benign |
Het |
Lama2 |
A |
C |
10: 27,298,600 (GRCm39) |
H165Q |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 41,158,367 (GRCm39) |
N1617Y |
probably damaging |
Het |
Mcc |
C |
T |
18: 44,652,583 (GRCm39) |
|
probably null |
Het |
Mfsd14b |
T |
A |
13: 65,215,739 (GRCm39) |
M405L |
probably benign |
Het |
Myom3 |
T |
A |
4: 135,515,692 (GRCm39) |
F794I |
probably damaging |
Het |
Napsa |
G |
T |
7: 44,236,046 (GRCm39) |
A362S |
probably benign |
Het |
Ncf4 |
A |
T |
15: 78,140,186 (GRCm39) |
D195V |
probably damaging |
Het |
Or11g1 |
T |
C |
14: 50,651,012 (GRCm39) |
F4L |
probably benign |
Het |
Pank4 |
T |
G |
4: 155,063,987 (GRCm39) |
D659E |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 81,964,590 (GRCm39) |
D252E |
probably benign |
Het |
Pglyrp2 |
G |
A |
17: 32,637,551 (GRCm39) |
A159V |
probably benign |
Het |
Phaf1 |
T |
C |
8: 105,966,633 (GRCm39) |
F127L |
probably damaging |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Ppfia4 |
A |
G |
1: 134,245,674 (GRCm39) |
S627P |
probably benign |
Het |
Ppp1r15b |
T |
C |
1: 133,059,761 (GRCm39) |
F93L |
probably benign |
Het |
Pramel13 |
C |
T |
4: 144,119,172 (GRCm39) |
|
probably benign |
Het |
Qrfpr |
A |
T |
3: 36,235,200 (GRCm39) |
|
probably null |
Het |
Rapgef4 |
C |
A |
2: 72,064,467 (GRCm39) |
T623K |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,501,668 (GRCm39) |
T184A |
possibly damaging |
Het |
Ssrp1 |
T |
C |
2: 84,877,056 (GRCm39) |
*709Q |
probably null |
Het |
St7 |
T |
G |
6: 17,930,822 (GRCm39) |
I442S |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,972,087 (GRCm39) |
H992Q |
probably damaging |
Het |
Syt14 |
T |
C |
1: 192,615,679 (GRCm39) |
R436G |
probably damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,270,793 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
T |
A |
6: 12,317,418 (GRCm39) |
N1630I |
probably damaging |
Het |
Tinagl1 |
T |
C |
4: 130,061,794 (GRCm39) |
K180R |
probably damaging |
Het |
Tmed7 |
T |
C |
18: 46,730,190 (GRCm39) |
T54A |
probably benign |
Het |
Tmprss2 |
A |
T |
16: 97,379,795 (GRCm39) |
Y48* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,020,069 (GRCm39) |
|
probably null |
Het |
Unc13d |
T |
C |
11: 115,960,577 (GRCm39) |
M496V |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zbtb39 |
A |
G |
10: 127,578,235 (GRCm39) |
T270A |
probably benign |
Het |
Zfr |
T |
C |
15: 12,180,798 (GRCm39) |
S976P |
probably benign |
Het |
Zscan29 |
A |
G |
2: 121,000,538 (GRCm39) |
F23S |
probably damaging |
Het |
|
Other mutations in Gm10717 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01635:Gm10717
|
APN |
9 |
3,025,506 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01635:Gm10717
|
APN |
9 |
3,025,511 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01864:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01865:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01865:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01866:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01873:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01875:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01877:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01877:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01878:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01879:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01880:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01882:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01886:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01887:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01892:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01893:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01897:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01901:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01903:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01904:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01907:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01907:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01908:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01913:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01919:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01920:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01923:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01925:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01927:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01930:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01931:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01932:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01941:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01948:Gm10717
|
APN |
9 |
3,025,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01949:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01951:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01952:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02106:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02142:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02592:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02609:Gm10717
|
APN |
9 |
3,026,287 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02802:Gm10717
|
UTSW |
9 |
3,031,999 (GRCm39) |
missense |
probably benign |
|
R0277:Gm10717
|
UTSW |
9 |
3,025,619 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1813:Gm10717
|
UTSW |
9 |
3,026,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R1911:Gm10717
|
UTSW |
9 |
3,026,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R2399:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R2874:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R3617:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R3720:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R4988:Gm10717
|
UTSW |
9 |
3,026,368 (GRCm39) |
missense |
probably benign |
0.00 |
R5002:Gm10717
|
UTSW |
9 |
3,025,532 (GRCm39) |
missense |
probably benign |
|
R5117:Gm10717
|
UTSW |
9 |
3,025,625 (GRCm39) |
missense |
probably benign |
0.00 |
R5367:Gm10717
|
UTSW |
9 |
3,026,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R5539:Gm10717
|
UTSW |
9 |
3,030,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R5623:Gm10717
|
UTSW |
9 |
3,026,318 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |