Incidental Mutation 'R3155:Gm6871'
| ID |
263459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm6871
|
| Ensembl Gene |
ENSMUSG00000090744 |
| Gene Name |
predicted gene 6871 |
| Synonyms |
|
| MMRRC Submission |
040606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R3155 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41193704-41210253 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41223079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 3
(N3S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110214]
[ENSMUST00000171059]
|
| AlphaFold |
L7N248 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110214
AA Change: N3S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000105843
Gene: ENSMUSG00000090744
AA Change: N3S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
111 |
171 |
1.19e-16 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
266 |
288 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
294 |
316 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
518 |
540 |
5.14e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171059
AA Change: N3S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000129201
Gene: ENSMUSG00000090744
AA Change: N3S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
C |
4: 40,182,915 (GRCm39) |
V487A |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,986,250 (GRCm39) |
E79G |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,425 (GRCm39) |
N608S |
probably benign |
Het |
| Ahctf1 |
G |
A |
1: 179,583,148 (GRCm39) |
R43C |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,987,541 (GRCm39) |
I2942L |
possibly damaging |
Het |
| Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
| Ccdc14 |
A |
G |
16: 34,544,222 (GRCm39) |
D860G |
probably damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,099,152 (GRCm39) |
I480F |
possibly damaging |
Het |
| Cldn34a |
C |
T |
X: 151,346,840 (GRCm39) |
H171Y |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,843 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,651,887 (GRCm39) |
Y376* |
probably null |
Het |
| Fancm |
T |
C |
12: 65,163,195 (GRCm39) |
I1453T |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,689,244 (GRCm39) |
I456V |
possibly damaging |
Het |
| Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
| Gbp5 |
T |
C |
3: 142,208,888 (GRCm39) |
|
probably null |
Het |
| Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
| H2-Eb1 |
C |
A |
17: 34,533,348 (GRCm39) |
T190K |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,129,065 (GRCm39) |
I194F |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,694,500 (GRCm39) |
V149A |
probably benign |
Het |
| Lrit3 |
A |
G |
3: 129,585,044 (GRCm39) |
F238S |
probably benign |
Het |
| Map10 |
A |
T |
8: 126,398,313 (GRCm39) |
I569F |
possibly damaging |
Het |
| Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
| Npc1l1 |
A |
C |
11: 6,171,840 (GRCm39) |
D874E |
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,179,836 (GRCm39) |
M1K |
probably null |
Het |
| Pawr |
A |
G |
10: 108,245,370 (GRCm39) |
T193A |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,089,559 (GRCm39) |
K255E |
possibly damaging |
Het |
| Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
A |
G |
2: 145,702,771 (GRCm39) |
K489R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,006,529 (GRCm39) |
V817A |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Stk4 |
T |
A |
2: 163,993,663 (GRCm39) |
M98K |
probably benign |
Het |
| Taf15 |
T |
A |
11: 83,393,599 (GRCm39) |
H307Q |
probably benign |
Het |
| Urgcp |
A |
T |
11: 5,666,327 (GRCm39) |
F670L |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
| Zfp324 |
G |
A |
7: 12,702,817 (GRCm39) |
M60I |
probably damaging |
Het |
|
| Other mutations in Gm6871 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Gm6871
|
APN |
7 |
41,195,845 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1005_Gm6871_627
|
UTSW |
7 |
41,195,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0419:Gm6871
|
UTSW |
7 |
41,222,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1005:Gm6871
|
UTSW |
7 |
41,195,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Gm6871
|
UTSW |
7 |
41,195,514 (GRCm39) |
splice site |
probably null |
|
|
R1553:Gm6871
|
UTSW |
7 |
41,195,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1674:Gm6871
|
UTSW |
7 |
41,223,059 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1710:Gm6871
|
UTSW |
7 |
41,195,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Gm6871
|
UTSW |
7 |
41,195,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1777:Gm6871
|
UTSW |
7 |
41,195,143 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1844:Gm6871
|
UTSW |
7 |
41,222,892 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2508:Gm6871
|
UTSW |
7 |
41,197,414 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2966:Gm6871
|
UTSW |
7 |
41,222,864 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3156:Gm6871
|
UTSW |
7 |
41,223,079 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3967:Gm6871
|
UTSW |
7 |
41,196,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4156:Gm6871
|
UTSW |
7 |
41,195,510 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4238:Gm6871
|
UTSW |
7 |
41,195,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:Gm6871
|
UTSW |
7 |
41,195,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4240:Gm6871
|
UTSW |
7 |
41,195,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Gm6871
|
UTSW |
7 |
41,196,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Gm6871
|
UTSW |
7 |
41,196,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4733:Gm6871
|
UTSW |
7 |
41,196,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4910:Gm6871
|
UTSW |
7 |
41,223,016 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5269:Gm6871
|
UTSW |
7 |
41,197,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5371:Gm6871
|
UTSW |
7 |
41,222,992 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6222:Gm6871
|
UTSW |
7 |
41,196,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6975:Gm6871
|
UTSW |
7 |
41,196,202 (GRCm39) |
synonymous |
silent |
|
|
R8006:Gm6871
|
UTSW |
7 |
41,195,106 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8150:Gm6871
|
UTSW |
7 |
41,197,185 (GRCm39) |
missense |
|
|
|
R9019:Gm6871
|
UTSW |
7 |
41,195,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gm6871
|
UTSW |
7 |
41,195,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACTGGTATGGCTTCTCTC -3'
(R):5'- TGTGGAAACTCAACCCTTCATG -3'
Sequencing Primer
(F):5'- CTCTCCTGTGTGGGTGCAC -3'
(R):5'- GTAAGTACACTGTAGCTGTCCTCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation