Incidental Mutation 'R4162:Gm10722'
| ID |
371093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10722
|
| Ensembl Gene |
ENSMUSG00000091028 |
| Gene Name |
predicted gene 10722 |
| Synonyms |
|
| MMRRC Submission |
041005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.772)
|
| Stock # |
R4162 (G1)
|
| Quality Score |
28 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
3000922-3002330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 3001041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 39
(Y39S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151376]
[ENSMUST00000177722]
[ENSMUST00000178077]
[ENSMUST00000178348]
[ENSMUST00000179881]
|
| AlphaFold |
F6VLK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151376
AA Change: Y39S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132394
Gene: ENSMUSG00000091028
AA Change: Y39S
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_2
|
8 |
50 |
1.25e-5 |
PROSPERO |
|
internal_repeat_1
|
11 |
88 |
6.98e-39 |
PROSPERO |
|
internal_repeat_2
|
66 |
108 |
1.25e-5 |
PROSPERO |
|
internal_repeat_1
|
89 |
166 |
6.98e-39 |
PROSPERO |
|
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177722
|
| SMART Domains |
Protein: ENSMUSP00000136598
Gene: ENSMUSG00000096385
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
19 |
1.14e-8 |
PROSPERO |
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
118 |
136 |
1.14e-8 |
PROSPERO |
|
transmembrane domain
|
156 |
178 |
N/A |
INTRINSIC |
|
transmembrane domain
|
200 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178077
|
| SMART Domains |
Protein: ENSMUSP00000136761
Gene: ENSMUSG00000096385
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
19 |
4.71e-8 |
PROSPERO |
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
118 |
136 |
4.71e-8 |
PROSPERO |
|
transmembrane domain
|
156 |
178 |
N/A |
INTRINSIC |
|
transmembrane domain
|
200 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178348
|
| SMART Domains |
Protein: ENSMUSP00000137273
Gene: ENSMUSG00000096385
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
48 |
1.34e-9 |
PROSPERO |
|
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
165 |
1.34e-9 |
PROSPERO |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179881
|
| SMART Domains |
Protein: ENSMUSP00000136541
Gene: ENSMUSG00000096385
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
46 |
5.29e-7 |
PROSPERO |
|
transmembrane domain
|
53 |
72 |
N/A |
INTRINSIC |
|
transmembrane domain
|
77 |
99 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
117 |
182 |
5.29e-7 |
PROSPERO |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181242
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
93% (38/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
A |
10: 83,342,518 (GRCm39) |
I431F |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,836,148 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
C |
T |
9: 13,723,929 (GRCm39) |
|
probably null |
Het |
| Cgas |
G |
A |
9: 78,341,686 (GRCm39) |
R364C |
probably damaging |
Het |
| Cybc1 |
T |
C |
11: 121,115,492 (GRCm39) |
D109G |
probably damaging |
Het |
| Defb41 |
C |
T |
1: 18,330,821 (GRCm39) |
C42Y |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Gli3 |
G |
T |
13: 15,899,700 (GRCm39) |
S1029I |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 40,867,202 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,507,042 (GRCm39) |
K478E |
probably damaging |
Het |
| Il18 |
T |
C |
9: 50,490,712 (GRCm39) |
S116P |
probably damaging |
Het |
| Itsn1 |
C |
A |
16: 91,649,790 (GRCm39) |
P155T |
probably benign |
Het |
| Kdm5b |
C |
T |
1: 134,552,899 (GRCm39) |
P1292S |
probably benign |
Het |
| Mef2b |
T |
C |
8: 70,618,961 (GRCm39) |
F181S |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,617,147 (GRCm39) |
|
probably benign |
Het |
| Mfsd12 |
A |
G |
10: 81,196,931 (GRCm39) |
|
probably null |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Nrxn2 |
G |
A |
19: 6,582,173 (GRCm39) |
V660I |
probably damaging |
Het |
| Nsun4 |
G |
T |
4: 115,891,391 (GRCm39) |
Y329* |
probably null |
Het |
| Pank4 |
T |
C |
4: 155,064,051 (GRCm39) |
|
probably null |
Het |
| Plcb2 |
T |
A |
2: 118,540,068 (GRCm39) |
E1075V |
probably damaging |
Het |
| Prep |
G |
T |
10: 44,943,458 (GRCm39) |
R11L |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,323,154 (GRCm39) |
F461L |
probably damaging |
Het |
| Saxo5 |
C |
T |
8: 3,529,067 (GRCm39) |
P214L |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,628,770 (GRCm39) |
Y138H |
probably damaging |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,071,586 (GRCm39) |
S2378P |
probably damaging |
Het |
| Thap12 |
C |
T |
7: 98,359,285 (GRCm39) |
|
probably benign |
Het |
| Trav3-1 |
T |
C |
14: 52,818,496 (GRCm39) |
Y57H |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,857,994 (GRCm39) |
|
probably null |
Het |
| Tubgcp3 |
C |
T |
8: 12,689,547 (GRCm39) |
R573Q |
possibly damaging |
Het |
| Ush2a |
A |
C |
1: 188,475,877 (GRCm39) |
K2938T |
probably benign |
Het |
| Vasp |
A |
T |
7: 18,993,397 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
A |
8: 109,683,619 (GRCm39) |
T3686K |
unknown |
Het |
|
| Other mutations in Gm10722 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01013:Gm10722
|
APN |
9 |
3,002,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4131001:Gm10722
|
UTSW |
9 |
3,001,414 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4142001:Gm10722
|
UTSW |
9 |
3,001,350 (GRCm39) |
missense |
probably benign |
|
|
R0148:Gm10722
|
UTSW |
9 |
3,001,405 (GRCm39) |
missense |
probably null |
|
|
R0335:Gm10722
|
UTSW |
9 |
3,001,048 (GRCm39) |
missense |
probably null |
|
|
R4327:Gm10722
|
UTSW |
9 |
3,000,937 (GRCm39) |
missense |
probably benign |
|
|
R4449:Gm10722
|
UTSW |
9 |
3,001,041 (GRCm39) |
missense |
probably benign |
|
|
R4516:Gm10722
|
UTSW |
9 |
3,000,937 (GRCm39) |
missense |
probably benign |
|
|
R4807:Gm10722
|
UTSW |
9 |
3,000,937 (GRCm39) |
missense |
probably benign |
|
|
R4998:Gm10722
|
UTSW |
9 |
3,001,041 (GRCm39) |
missense |
probably benign |
|
|
R5017:Gm10722
|
UTSW |
9 |
3,000,937 (GRCm39) |
missense |
probably benign |
|
|
R5021:Gm10722
|
UTSW |
9 |
3,001,041 (GRCm39) |
missense |
probably benign |
|
|
R5075:Gm10722
|
UTSW |
9 |
3,001,041 (GRCm39) |
missense |
probably benign |
|
|
R5135:Gm10722
|
UTSW |
9 |
3,000,937 (GRCm39) |
missense |
probably benign |
|
|
R5152:Gm10722
|
UTSW |
9 |
3,001,041 (GRCm39) |
missense |
probably benign |
|
|
R5226:Gm10722
|
UTSW |
9 |
3,000,937 (GRCm39) |
missense |
probably benign |
|
|
R5482:Gm10722
|
UTSW |
9 |
3,001,041 (GRCm39) |
missense |
probably benign |
|
|
R7381:Gm10722
|
UTSW |
9 |
3,001,235 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCAAGTCGTCAACTGTATGTTTC -3'
(R):5'- GTAGGACCTGGAATATGGCG -3'
Sequencing Primer
(F):5'- GCCATATTTCAGGTCCTACAGTGTG -3'
(R):5'- CACACTTTAGGACATGAAATATGGCG -3'
|
| Posted On |
2016-02-16 |
Incidental Mutation