Incidental Mutation 'R9179:Plekha6'
ID |
696869 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha6
|
Ensembl Gene |
ENSMUSG00000041757 |
Gene Name |
pleckstrin homology domain containing, family A member 6 |
Synonyms |
Pepp3 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R9179 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133214085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 832
(Y832C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
|
AlphaFold |
Q7TQG1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038295
AA Change: Y832C
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000048214 Gene: ENSMUSG00000041757 AA Change: Y832C
Domain | Start | End | E-Value | Type |
PH
|
60 |
160 |
2.23e-20 |
SMART |
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
low complexity region
|
353 |
367 |
N/A |
INTRINSIC |
Blast:PH
|
506 |
576 |
6e-31 |
BLAST |
coiled coil region
|
613 |
686 |
N/A |
INTRINSIC |
low complexity region
|
761 |
782 |
N/A |
INTRINSIC |
low complexity region
|
789 |
808 |
N/A |
INTRINSIC |
low complexity region
|
812 |
827 |
N/A |
INTRINSIC |
low complexity region
|
1139 |
1153 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105082
|
SMART Domains |
Protein: ENSMUSP00000100703 Gene: ENSMUSG00000041757
Domain | Start | End | E-Value | Type |
PH
|
60 |
180 |
1.24e-18 |
SMART |
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
low complexity region
|
373 |
387 |
N/A |
INTRINSIC |
coiled coil region
|
559 |
632 |
N/A |
INTRINSIC |
low complexity region
|
707 |
728 |
N/A |
INTRINSIC |
low complexity region
|
1035 |
1049 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186917
|
SMART Domains |
Protein: ENSMUSP00000139794 Gene: ENSMUSG00000041757
Domain | Start | End | E-Value | Type |
PH
|
60 |
180 |
1.24e-18 |
SMART |
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
low complexity region
|
373 |
387 |
N/A |
INTRINSIC |
coiled coil region
|
559 |
632 |
N/A |
INTRINSIC |
low complexity region
|
707 |
728 |
N/A |
INTRINSIC |
low complexity region
|
1035 |
1049 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187285
|
SMART Domains |
Protein: ENSMUSP00000140558 Gene: ENSMUSG00000041757
Domain | Start | End | E-Value | Type |
PH
|
60 |
160 |
9.6e-23 |
SMART |
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
low complexity region
|
353 |
367 |
N/A |
INTRINSIC |
coiled coil region
|
539 |
612 |
N/A |
INTRINSIC |
low complexity region
|
687 |
708 |
N/A |
INTRINSIC |
low complexity region
|
1014 |
1028 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187299
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190186
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
T |
A |
6: 124,333,882 (GRCm39) |
M33L |
probably benign |
Het |
2310003L06Rik |
A |
G |
5: 88,119,890 (GRCm39) |
T216A |
probably benign |
Het |
9330161L09Rik |
A |
C |
12: 103,373,837 (GRCm39) |
C12G |
unknown |
Het |
Ahdc1 |
T |
A |
4: 132,788,929 (GRCm39) |
F57I |
possibly damaging |
Het |
Amotl1 |
C |
A |
9: 14,461,787 (GRCm39) |
A809S |
possibly damaging |
Het |
Ankfn1 |
C |
T |
11: 89,414,011 (GRCm39) |
M121I |
probably benign |
Het |
Aspm |
A |
G |
1: 139,404,453 (GRCm39) |
D1261G |
probably damaging |
Het |
Axl |
T |
C |
7: 25,469,658 (GRCm39) |
T502A |
probably damaging |
Het |
Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
Ccdc102a |
A |
G |
8: 95,639,748 (GRCm39) |
V182A |
possibly damaging |
Het |
Cdh23 |
C |
T |
10: 60,153,664 (GRCm39) |
A2309T |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,676,064 (GRCm39) |
N210K |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,500,054 (GRCm39) |
S147P |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,600,912 (GRCm39) |
S752P |
probably benign |
Het |
Cyp3a41a |
A |
T |
5: 145,642,654 (GRCm39) |
M235K |
probably benign |
Het |
Cyp4f15 |
A |
G |
17: 32,919,185 (GRCm39) |
D336G |
possibly damaging |
Het |
Dagla |
A |
G |
19: 10,228,525 (GRCm39) |
I631T |
possibly damaging |
Het |
Dph6 |
C |
T |
2: 114,353,591 (GRCm39) |
C199Y |
probably damaging |
Het |
Ermard |
T |
A |
17: 15,273,495 (GRCm39) |
L360Q |
probably damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,314,708 (GRCm39) |
T190A |
probably benign |
Het |
Fgfr3 |
G |
T |
5: 33,887,316 (GRCm39) |
V212L |
possibly damaging |
Het |
Flnb |
C |
A |
14: 7,887,541 (GRCm38) |
C450* |
probably null |
Het |
Gls |
T |
C |
1: 52,239,015 (GRCm39) |
Y362C |
probably damaging |
Het |
Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
Gns |
T |
C |
10: 121,216,080 (GRCm39) |
F276L |
|
Het |
Grin2d |
A |
G |
7: 45,506,176 (GRCm39) |
S572P |
probably damaging |
Het |
Impa2 |
C |
T |
18: 67,422,473 (GRCm39) |
|
probably benign |
Het |
Itgal |
A |
T |
7: 126,905,883 (GRCm39) |
D355V |
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,297,521 (GRCm39) |
|
probably null |
Het |
Klk1b1 |
T |
A |
7: 43,618,715 (GRCm39) |
C31S |
probably damaging |
Het |
Ldb3 |
A |
T |
14: 34,277,312 (GRCm39) |
V354E |
probably benign |
Het |
Mettl21c |
T |
A |
1: 44,049,142 (GRCm39) |
Y135F |
probably benign |
Het |
Mocs1 |
A |
G |
17: 49,740,303 (GRCm39) |
T77A |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,209,274 (GRCm39) |
N30D |
probably benign |
Het |
Or1j11 |
T |
C |
2: 36,312,126 (GRCm39) |
S239P |
probably damaging |
Het |
Or4a71 |
T |
A |
2: 89,358,494 (GRCm39) |
K87* |
probably null |
Het |
Otog |
C |
A |
7: 45,937,885 (GRCm39) |
P1865T |
possibly damaging |
Het |
Pabpc1l |
T |
C |
2: 163,873,140 (GRCm39) |
S137P |
probably damaging |
Het |
Pilrb1 |
C |
A |
5: 137,855,657 (GRCm39) |
W78L |
probably damaging |
Het |
Ppan |
C |
A |
9: 20,803,199 (GRCm39) |
Q424K |
probably benign |
Het |
Ppp1r12a |
T |
A |
10: 108,087,782 (GRCm39) |
N544K |
probably damaging |
Het |
Pramel16 |
T |
C |
4: 143,676,294 (GRCm39) |
E270G |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,961,155 (GRCm39) |
D246G |
possibly damaging |
Het |
Rasef |
G |
A |
4: 73,662,356 (GRCm39) |
T198I |
probably damaging |
Het |
Rbm12 |
T |
C |
2: 155,938,463 (GRCm39) |
H603R |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,482,490 (GRCm39) |
R179G |
probably damaging |
Het |
Scel |
T |
C |
14: 103,811,836 (GRCm39) |
L288P |
possibly damaging |
Het |
Sel1l |
A |
T |
12: 91,778,726 (GRCm39) |
D696E |
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,689,482 (GRCm39) |
K416R |
possibly damaging |
Het |
Tmem132b |
A |
T |
5: 125,700,115 (GRCm39) |
M218L |
probably benign |
Het |
Tnrc6a |
T |
C |
7: 122,791,881 (GRCm39) |
S1800P |
probably benign |
Het |
Tpcn1 |
A |
C |
5: 120,680,015 (GRCm39) |
L576R |
probably damaging |
Het |
Vmn2r34 |
T |
G |
7: 7,675,723 (GRCm39) |
Q555P |
possibly damaging |
Het |
Vwa8 |
C |
T |
14: 79,335,801 (GRCm39) |
T1419I |
probably benign |
Het |
Xrn2 |
T |
C |
2: 146,855,081 (GRCm39) |
Y14H |
probably benign |
Het |
Zfp1007 |
A |
G |
5: 109,823,708 (GRCm39) |
C581R |
probably damaging |
Het |
Zfyve28 |
A |
T |
5: 34,382,376 (GRCm39) |
D241E |
probably benign |
Het |
|
Other mutations in Plekha6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01098:Plekha6
|
APN |
1 |
133,209,903 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01328:Plekha6
|
APN |
1 |
133,200,074 (GRCm39) |
splice site |
probably null |
|
IGL01739:Plekha6
|
APN |
1 |
133,187,869 (GRCm39) |
missense |
probably benign |
0.38 |
IGL01803:Plekha6
|
APN |
1 |
133,200,152 (GRCm39) |
nonsense |
probably null |
|
IGL02053:Plekha6
|
APN |
1 |
133,200,230 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02269:Plekha6
|
APN |
1 |
133,215,587 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02276:Plekha6
|
APN |
1 |
133,221,599 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02478:Plekha6
|
APN |
1 |
133,211,031 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02754:Plekha6
|
APN |
1 |
133,212,676 (GRCm39) |
missense |
probably damaging |
0.98 |
G1Funyon:Plekha6
|
UTSW |
1 |
133,192,425 (GRCm39) |
missense |
probably damaging |
0.96 |
R0100:Plekha6
|
UTSW |
1 |
133,197,915 (GRCm39) |
missense |
probably damaging |
0.99 |
R0334:Plekha6
|
UTSW |
1 |
133,209,918 (GRCm39) |
missense |
probably benign |
0.24 |
R0470:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
probably benign |
0.07 |
R1016:Plekha6
|
UTSW |
1 |
133,187,832 (GRCm39) |
missense |
probably benign |
0.00 |
R1254:Plekha6
|
UTSW |
1 |
133,200,327 (GRCm39) |
missense |
probably benign |
0.10 |
R1728:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1729:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1730:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1739:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1762:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1771:Plekha6
|
UTSW |
1 |
133,201,651 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1784:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1785:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
R1786:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
R1997:Plekha6
|
UTSW |
1 |
133,191,556 (GRCm39) |
missense |
probably benign |
0.43 |
R2020:Plekha6
|
UTSW |
1 |
133,212,708 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2130:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
R2131:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
R2133:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
R2992:Plekha6
|
UTSW |
1 |
133,222,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R3781:Plekha6
|
UTSW |
1 |
133,222,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R3810:Plekha6
|
UTSW |
1 |
133,201,717 (GRCm39) |
missense |
probably benign |
|
R4067:Plekha6
|
UTSW |
1 |
133,222,416 (GRCm39) |
missense |
probably benign |
0.40 |
R4725:Plekha6
|
UTSW |
1 |
133,211,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R5657:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5658:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5746:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5768:Plekha6
|
UTSW |
1 |
133,208,116 (GRCm39) |
missense |
probably benign |
0.01 |
R5785:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5892:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5937:Plekha6
|
UTSW |
1 |
133,187,839 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5985:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5986:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6053:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6072:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6167:Plekha6
|
UTSW |
1 |
133,207,145 (GRCm39) |
missense |
probably null |
0.96 |
R6843:Plekha6
|
UTSW |
1 |
133,202,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Plekha6
|
UTSW |
1 |
133,187,793 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6912:Plekha6
|
UTSW |
1 |
133,200,273 (GRCm39) |
missense |
probably benign |
0.02 |
R6970:Plekha6
|
UTSW |
1 |
133,191,556 (GRCm39) |
missense |
probably benign |
0.43 |
R7041:Plekha6
|
UTSW |
1 |
133,200,198 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7248:Plekha6
|
UTSW |
1 |
133,203,586 (GRCm39) |
nonsense |
probably null |
|
R7400:Plekha6
|
UTSW |
1 |
133,201,762 (GRCm39) |
nonsense |
probably null |
|
R7720:Plekha6
|
UTSW |
1 |
133,221,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R7772:Plekha6
|
UTSW |
1 |
133,097,760 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8011:Plekha6
|
UTSW |
1 |
133,191,544 (GRCm39) |
missense |
probably benign |
|
R8301:Plekha6
|
UTSW |
1 |
133,192,425 (GRCm39) |
missense |
probably damaging |
0.96 |
R8387:Plekha6
|
UTSW |
1 |
133,219,893 (GRCm39) |
splice site |
probably null |
|
R8465:Plekha6
|
UTSW |
1 |
133,197,778 (GRCm39) |
missense |
probably damaging |
0.98 |
R8501:Plekha6
|
UTSW |
1 |
133,215,575 (GRCm39) |
missense |
probably benign |
0.34 |
R9025:Plekha6
|
UTSW |
1 |
133,212,999 (GRCm39) |
missense |
probably benign |
0.01 |
R9044:Plekha6
|
UTSW |
1 |
133,201,688 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9044:Plekha6
|
UTSW |
1 |
133,201,687 (GRCm39) |
missense |
probably benign |
0.01 |
R9165:Plekha6
|
UTSW |
1 |
133,200,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R9186:Plekha6
|
UTSW |
1 |
133,220,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R9188:Plekha6
|
UTSW |
1 |
133,220,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R9321:Plekha6
|
UTSW |
1 |
133,209,549 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Plekha6
|
UTSW |
1 |
133,200,209 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Plekha6
|
UTSW |
1 |
133,191,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGATAAGACTATCTGGCTCCTG -3'
(R):5'- AGCTGACCTGTGAGACTGTG -3'
Sequencing Primer
(F):5'- GATAAGACTATCTGGCTCCTGCTAAC -3'
(R):5'- TGTGAGACTGTGCCTCCAG -3'
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Posted On |
2022-02-07 |