Incidental Mutation 'R4988:Gm10717'
ID |
444511 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm10717
|
Ensembl Gene |
ENSMUSG00000095891 |
Gene Name |
predicted gene 10717 |
Synonyms |
|
MMRRC Submission |
042582-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.810)
|
Stock # |
R4988 (G1)
|
Quality Score |
24 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
3025417-3033289 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3026368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 72
(L72M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136755
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075573]
[ENSMUST00000099042]
[ENSMUST00000099046]
[ENSMUST00000099047]
[ENSMUST00000099051]
[ENSMUST00000177601]
[ENSMUST00000179982]
[ENSMUST00000177875]
[ENSMUST00000179264]
|
AlphaFold |
D3Z1I8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075573
AA Change: L222H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000096644 Gene: ENSMUSG00000095891 AA Change: L222H
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
AA Change: L72M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000136755 Gene: ENSMUSG00000095891 AA Change: L72M
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: ENSMUST00000181957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181572
|
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 |
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
G |
A |
1: 130,670,447 (GRCm39) |
G223E |
probably damaging |
Het |
Abcb11 |
T |
C |
2: 69,154,236 (GRCm39) |
N110S |
probably benign |
Het |
Acaca |
T |
A |
11: 84,154,121 (GRCm39) |
H947Q |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,380,276 (GRCm39) |
M2202T |
probably damaging |
Het |
Amy2b |
T |
C |
3: 113,058,550 (GRCm39) |
|
noncoding transcript |
Het |
Arhgef4 |
A |
T |
1: 34,762,535 (GRCm39) |
H597L |
unknown |
Het |
Asgr2 |
A |
G |
11: 69,988,665 (GRCm39) |
I119M |
probably benign |
Het |
Casc3 |
T |
G |
11: 98,712,700 (GRCm39) |
|
probably null |
Het |
Cbr1b |
A |
G |
16: 93,426,884 (GRCm39) |
T162A |
probably benign |
Het |
Ccdc7b |
T |
A |
8: 129,872,013 (GRCm39) |
M239K |
possibly damaging |
Het |
Cdc27 |
A |
G |
11: 104,416,950 (GRCm39) |
S334P |
possibly damaging |
Het |
Ces1c |
T |
C |
8: 93,827,336 (GRCm39) |
E476G |
probably damaging |
Het |
Clec3a |
T |
A |
8: 115,144,827 (GRCm39) |
M1K |
probably null |
Het |
Col9a1 |
T |
C |
1: 24,224,273 (GRCm39) |
S152P |
unknown |
Het |
Cpd |
A |
G |
11: 76,705,656 (GRCm39) |
S359P |
probably damaging |
Het |
Ctnnal1 |
A |
T |
4: 56,847,854 (GRCm39) |
L95* |
probably null |
Het |
Dhx57 |
T |
C |
17: 80,558,827 (GRCm39) |
D1044G |
probably damaging |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Efcab5 |
A |
G |
11: 77,028,078 (GRCm39) |
S418P |
probably damaging |
Het |
Elp5 |
T |
C |
11: 69,870,668 (GRCm39) |
D59G |
probably benign |
Het |
Fam210a |
G |
A |
18: 68,409,218 (GRCm39) |
R31C |
probably benign |
Het |
Farp1 |
A |
G |
14: 121,513,019 (GRCm39) |
T792A |
probably damaging |
Het |
Fmc1 |
A |
T |
6: 38,511,917 (GRCm39) |
Y37F |
probably benign |
Het |
Gm1758 |
A |
T |
16: 14,320,067 (GRCm39) |
|
noncoding transcript |
Het |
Gm4553 |
G |
A |
7: 141,718,729 (GRCm39) |
|
probably benign |
Het |
Gpr156 |
A |
G |
16: 37,768,577 (GRCm39) |
T33A |
possibly damaging |
Het |
Hhat |
A |
T |
1: 192,339,602 (GRCm39) |
|
probably benign |
Het |
Hint2 |
T |
C |
4: 43,654,953 (GRCm39) |
I59V |
possibly damaging |
Het |
Hps4 |
C |
T |
5: 112,526,019 (GRCm39) |
|
probably benign |
Het |
Hsd17b8 |
A |
G |
17: 34,246,262 (GRCm39) |
F137S |
probably damaging |
Het |
Klrc2 |
A |
T |
6: 129,633,426 (GRCm39) |
C192S |
probably benign |
Het |
Map1a |
C |
T |
2: 121,133,531 (GRCm39) |
T1211I |
probably benign |
Het |
Mtus1 |
T |
C |
8: 41,537,578 (GRCm39) |
N46S |
probably benign |
Het |
Myo18a |
T |
C |
11: 77,736,347 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,458,266 (GRCm39) |
S1258P |
probably benign |
Het |
Ndst1 |
C |
T |
18: 60,836,005 (GRCm39) |
G426D |
probably damaging |
Het |
Nepro |
A |
G |
16: 44,554,905 (GRCm39) |
E327G |
possibly damaging |
Het |
Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
Or10s1 |
G |
A |
9: 39,985,961 (GRCm39) |
M123I |
probably damaging |
Het |
Or1j18 |
T |
C |
2: 36,624,996 (GRCm39) |
I221T |
possibly damaging |
Het |
Or2m13 |
A |
T |
16: 19,225,860 (GRCm39) |
M302K |
probably benign |
Het |
Or6c66 |
T |
C |
10: 129,461,930 (GRCm39) |
|
probably null |
Het |
Pcdhb15 |
G |
A |
18: 37,608,855 (GRCm39) |
A696T |
probably damaging |
Het |
Polm |
C |
A |
11: 5,787,618 (GRCm39) |
R45L |
probably damaging |
Het |
Pon3 |
G |
A |
6: 5,254,582 (GRCm39) |
R27* |
probably null |
Het |
Proser1 |
T |
C |
3: 53,387,046 (GRCm39) |
I845T |
probably damaging |
Het |
Rassf8 |
A |
G |
6: 145,762,870 (GRCm39) |
N406D |
possibly damaging |
Het |
Skint10 |
A |
T |
4: 112,586,069 (GRCm39) |
C182* |
probably null |
Het |
Slc6a19 |
C |
T |
13: 73,833,959 (GRCm39) |
W366* |
probably null |
Het |
St7 |
T |
C |
6: 17,934,225 (GRCm39) |
F470L |
probably damaging |
Het |
St8sia4 |
T |
A |
1: 95,519,522 (GRCm39) |
Y322F |
possibly damaging |
Het |
Trav8n-2 |
A |
T |
14: 53,975,814 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
A |
T |
14: 79,435,723 (GRCm39) |
H1811L |
probably benign |
Het |
Zfp14 |
G |
A |
7: 29,737,482 (GRCm39) |
T501I |
probably benign |
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 |
IGL01935:Gm10717
|
APN |
9 |
3,025,616 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCATATTCCATGTCCTACTGTG -3'
(R):5'- CCTGGAATATGGCAAGAAAACTGAA -3'
Sequencing Primer
(F):5'- CCATGTCCTACTGTGGAAATTTC -3'
(R):5'- TCCACTGTAGGACATGAAATATGGC -3'
|
Posted On |
2016-11-11 |