Incidental Mutation 'R7875:Poteg'
| ID |
608381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poteg
|
| Ensembl Gene |
ENSMUSG00000063932 |
| Gene Name |
POTE ankyrin domain family, member G |
| Synonyms |
4921537P18Rik, 4930456F22Rik |
| MMRRC Submission |
045927-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R7875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
27937698-27985200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27939942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 95
(P95L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081321]
[ENSMUST00000209669]
[ENSMUST00000210427]
|
| AlphaFold |
A5H0M4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081321
AA Change: P95L
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: P95L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
80 |
109 |
1.46e-2 |
SMART |
|
ANK
|
113 |
142 |
7.89e1 |
SMART |
|
ANK
|
146 |
175 |
3.1e-6 |
SMART |
|
ANK
|
179 |
208 |
2.81e-4 |
SMART |
|
ANK
|
212 |
241 |
8.62e1 |
SMART |
|
ANK
|
245 |
273 |
1.23e3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209669
AA Change: P33L
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210427
AA Change: P91L
PolyPhen 2
Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
T |
16: 30,958,459 (GRCm39) |
F102I |
probably damaging |
Het |
| Acp7 |
A |
T |
7: 28,314,152 (GRCm39) |
Y348N |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,099,016 (GRCm39) |
D174V |
probably benign |
Het |
| Ahdc1 |
A |
G |
4: 132,791,161 (GRCm39) |
T801A |
possibly damaging |
Het |
| Aldh1a7 |
A |
C |
19: 20,693,343 (GRCm39) |
V192G |
possibly damaging |
Het |
| Anp32b |
T |
G |
4: 46,451,301 (GRCm39) |
D2E |
probably benign |
Het |
| Arhgef11 |
A |
T |
3: 87,591,808 (GRCm39) |
D53V |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,964,771 (GRCm39) |
N300S |
probably benign |
Het |
| Ascc2 |
A |
G |
11: 4,618,389 (GRCm39) |
N328S |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,382,872 (GRCm39) |
Q68L |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ccser1 |
A |
T |
6: 61,288,932 (GRCm39) |
H365L |
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,518,500 (GRCm39) |
N213K |
unknown |
Het |
| Col7a1 |
T |
C |
9: 108,787,763 (GRCm39) |
V681A |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,239,446 (GRCm39) |
I1216V |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,863,396 (GRCm39) |
Y792* |
probably null |
Het |
| Fam241b |
A |
T |
10: 61,970,271 (GRCm39) |
S10R |
|
Het |
| Gab1 |
C |
T |
8: 81,515,395 (GRCm39) |
D308N |
probably damaging |
Het |
| Gdf11 |
C |
T |
10: 128,722,210 (GRCm39) |
R215H |
probably benign |
Het |
| Gpc1 |
T |
C |
1: 92,782,970 (GRCm39) |
|
probably null |
Het |
| Hnf4a |
G |
T |
2: 163,400,980 (GRCm39) |
E200* |
probably null |
Het |
| Ints2 |
T |
C |
11: 86,103,888 (GRCm39) |
T1086A |
probably damaging |
Het |
| Kbtbd7 |
A |
G |
14: 79,664,806 (GRCm39) |
T213A |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,501,385 (GRCm39) |
D917G |
probably damaging |
Het |
| Kdm5a |
C |
A |
6: 120,375,979 (GRCm39) |
Y578* |
probably null |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,343 (GRCm39) |
T252S |
possibly damaging |
Het |
| Mamdc4 |
C |
T |
2: 25,458,677 (GRCm39) |
W305* |
probably null |
Het |
| Mzb1 |
A |
G |
18: 35,780,913 (GRCm39) |
I125T |
possibly damaging |
Het |
| Nfrkb |
A |
G |
9: 31,321,450 (GRCm39) |
T716A |
possibly damaging |
Het |
| Or2ad1 |
T |
A |
13: 21,327,093 (GRCm39) |
I45F |
probably damaging |
Het |
| Or4f6 |
A |
G |
2: 111,839,192 (GRCm39) |
V113A |
probably benign |
Het |
| Or52r1b |
A |
G |
7: 102,691,060 (GRCm39) |
M120V |
probably damaging |
Het |
| Or8k16 |
G |
A |
2: 85,519,838 (GRCm39) |
E22K |
probably benign |
Het |
| Plcxd2 |
G |
A |
16: 45,830,065 (GRCm39) |
A52V |
possibly damaging |
Het |
| Prdm9 |
A |
T |
17: 15,773,804 (GRCm39) |
Y322* |
probably null |
Het |
| Rab11fip2 |
G |
C |
19: 59,925,655 (GRCm39) |
I187M |
possibly damaging |
Het |
| Ranbp2 |
G |
T |
10: 58,314,277 (GRCm39) |
E1666* |
probably null |
Het |
| Rin3 |
T |
C |
12: 102,335,735 (GRCm39) |
S549P |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,464,508 (GRCm39) |
|
probably null |
Het |
| Scn3a |
A |
G |
2: 65,327,826 (GRCm39) |
F888S |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,034,528 (GRCm39) |
I96N |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,936,723 (GRCm39) |
C128S |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,123,456 (GRCm39) |
S3185G |
possibly damaging |
Het |
| Syde2 |
A |
G |
3: 145,726,020 (GRCm39) |
E1304G |
probably damaging |
Het |
| Tagln |
T |
C |
9: 45,841,680 (GRCm39) |
I199V |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,327,899 (GRCm39) |
V536E |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 40,469,097 (GRCm39) |
K309R |
probably damaging |
Het |
| Thra |
A |
T |
11: 98,659,257 (GRCm39) |
D462V |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,578,652 (GRCm39) |
T521A |
possibly damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,619,884 (GRCm39) |
N265S |
possibly damaging |
Het |
| Upk3b |
A |
T |
5: 136,069,057 (GRCm39) |
Y142F |
probably benign |
Het |
| Vmn1r219 |
T |
C |
13: 23,347,363 (GRCm39) |
V184A |
possibly damaging |
Het |
| Vmn1r58 |
T |
C |
7: 5,413,753 (GRCm39) |
D159G |
probably damaging |
Het |
| Vnn3 |
C |
A |
10: 23,743,146 (GRCm39) |
A452D |
possibly damaging |
Het |
| Wscd1 |
T |
A |
11: 71,679,560 (GRCm39) |
Y478N |
probably damaging |
Het |
| Xrcc5 |
C |
T |
1: 72,369,090 (GRCm39) |
R315C |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
|
| Other mutations in Poteg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Poteg
|
APN |
8 |
27,963,648 (GRCm39) |
splice site |
probably benign |
|
|
IGL01964:Poteg
|
APN |
8 |
27,938,036 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03017:Poteg
|
APN |
8 |
27,952,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
deduction
|
UTSW |
8 |
27,948,683 (GRCm39) |
splice site |
probably null |
|
|
R0034:Poteg
|
UTSW |
8 |
27,952,105 (GRCm39) |
splice site |
probably benign |
|
|
R0069:Poteg
|
UTSW |
8 |
27,937,849 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0069:Poteg
|
UTSW |
8 |
27,937,849 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0522:Poteg
|
UTSW |
8 |
27,939,986 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0634:Poteg
|
UTSW |
8 |
27,963,615 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0971:Poteg
|
UTSW |
8 |
27,937,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1019:Poteg
|
UTSW |
8 |
27,937,852 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1450:Poteg
|
UTSW |
8 |
27,937,871 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1603:Poteg
|
UTSW |
8 |
27,938,033 (GRCm39) |
start codon destroyed |
probably null |
0.56 |
|
R1650:Poteg
|
UTSW |
8 |
27,953,813 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1656:Poteg
|
UTSW |
8 |
27,985,060 (GRCm39) |
intron |
probably benign |
|
|
R1818:Poteg
|
UTSW |
8 |
27,940,195 (GRCm39) |
nonsense |
probably null |
|
|
R2048:Poteg
|
UTSW |
8 |
27,946,774 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2847:Poteg
|
UTSW |
8 |
27,971,704 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2848:Poteg
|
UTSW |
8 |
27,971,704 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2849:Poteg
|
UTSW |
8 |
27,971,704 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4493:Poteg
|
UTSW |
8 |
27,970,125 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4967:Poteg
|
UTSW |
8 |
27,985,009 (GRCm39) |
intron |
probably benign |
|
|
R5051:Poteg
|
UTSW |
8 |
27,943,357 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5149:Poteg
|
UTSW |
8 |
27,971,671 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5579:Poteg
|
UTSW |
8 |
27,938,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Poteg
|
UTSW |
8 |
27,937,996 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5723:Poteg
|
UTSW |
8 |
27,940,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5804:Poteg
|
UTSW |
8 |
27,946,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6685:Poteg
|
UTSW |
8 |
27,937,933 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6911:Poteg
|
UTSW |
8 |
27,940,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7044:Poteg
|
UTSW |
8 |
27,939,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7096:Poteg
|
UTSW |
8 |
27,963,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7174:Poteg
|
UTSW |
8 |
27,943,305 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7287:Poteg
|
UTSW |
8 |
27,943,372 (GRCm39) |
missense |
probably null |
0.44 |
|
R7560:Poteg
|
UTSW |
8 |
27,984,988 (GRCm39) |
missense |
probably benign |
|
|
R7604:Poteg
|
UTSW |
8 |
27,948,683 (GRCm39) |
splice site |
probably null |
|
|
R7740:Poteg
|
UTSW |
8 |
27,952,052 (GRCm39) |
splice site |
probably null |
|
|
R7960:Poteg
|
UTSW |
8 |
27,946,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8265:Poteg
|
UTSW |
8 |
27,984,923 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8379:Poteg
|
UTSW |
8 |
27,943,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8414:Poteg
|
UTSW |
8 |
27,938,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8536:Poteg
|
UTSW |
8 |
27,938,048 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8742:Poteg
|
UTSW |
8 |
27,984,957 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8856:Poteg
|
UTSW |
8 |
27,938,033 (GRCm39) |
start codon destroyed |
probably null |
0.56 |
|
R9299:Poteg
|
UTSW |
8 |
27,940,287 (GRCm39) |
missense |
probably benign |
0.35 |
|
X0063:Poteg
|
UTSW |
8 |
27,940,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Poteg
|
UTSW |
8 |
27,937,982 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCCCTAGCAGGAAGGAGATC -3'
(R):5'- TGCCAGCAAGCAATAGGTG -3'
Sequencing Primer
(F):5'- TCCCTAGCAGGAAGGAGATCTATAC -3'
(R):5'- GATGGAGGCAAAGTTCTTTCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation