Incidental Mutation 'R8320:Foxj2'
ID |
641904 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Foxj2
|
Ensembl Gene |
ENSMUSG00000003154 |
Gene Name |
forkhead box J2 |
Synonyms |
Fhx |
MMRRC Submission |
067722-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.510)
|
Stock # |
R8320 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
122797143-122822325 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122810649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 210
(S210T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003238]
[ENSMUST00000177927]
[ENSMUST00000203075]
|
AlphaFold |
Q9ES18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003238
AA Change: S210T
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000003238 Gene: ENSMUSG00000003154 AA Change: S210T
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
FH
|
64 |
153 |
1.77e-47 |
SMART |
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
low complexity region
|
266 |
275 |
N/A |
INTRINSIC |
low complexity region
|
290 |
314 |
N/A |
INTRINSIC |
low complexity region
|
359 |
393 |
N/A |
INTRINSIC |
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177927
AA Change: S210T
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000137645 Gene: ENSMUSG00000003154 AA Change: S210T
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
FH
|
64 |
153 |
1.77e-47 |
SMART |
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
low complexity region
|
266 |
275 |
N/A |
INTRINSIC |
low complexity region
|
290 |
314 |
N/A |
INTRINSIC |
low complexity region
|
359 |
393 |
N/A |
INTRINSIC |
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203075
|
SMART Domains |
Protein: ENSMUSP00000145438 Gene: ENSMUSG00000003154
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
FH
|
64 |
153 |
7.8e-50 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb10 |
A |
G |
5: 24,742,626 (GRCm39) |
|
probably null |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Clec3a |
T |
C |
8: 115,152,369 (GRCm39) |
V125A |
probably benign |
Het |
Clspn |
A |
G |
4: 126,457,743 (GRCm39) |
D258G |
possibly damaging |
Het |
Cnn3 |
T |
G |
3: 121,243,635 (GRCm39) |
L32R |
probably damaging |
Het |
Cntnap5a |
T |
C |
1: 116,374,466 (GRCm39) |
F993L |
possibly damaging |
Het |
Cobl |
A |
G |
11: 12,217,001 (GRCm39) |
S496P |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,291,043 (GRCm39) |
V2469A |
probably benign |
Het |
Egfr |
T |
C |
11: 16,841,251 (GRCm39) |
F714S |
probably damaging |
Het |
Erap1 |
G |
C |
13: 74,814,668 (GRCm39) |
E465Q |
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,242,972 (GRCm39) |
V204A |
probably benign |
Het |
Fbln2 |
C |
T |
6: 91,234,749 (GRCm39) |
T689I |
possibly damaging |
Het |
Fbxw13 |
G |
T |
9: 109,012,134 (GRCm39) |
T311K |
probably benign |
Het |
Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
Gzmd |
A |
G |
14: 56,367,190 (GRCm39) |
I234T |
probably benign |
Het |
Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
Kif26b |
T |
C |
1: 178,711,641 (GRCm39) |
|
probably null |
Het |
Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
Klra10 |
A |
G |
6: 130,246,211 (GRCm39) |
C255R |
probably damaging |
Het |
Lgi4 |
T |
C |
7: 30,768,366 (GRCm39) |
V455A |
probably benign |
Het |
Mucl3 |
T |
C |
17: 35,954,530 (GRCm39) |
T11A |
probably benign |
Het |
Neb |
C |
A |
2: 52,186,343 (GRCm39) |
V910L |
probably benign |
Het |
Pigg |
G |
A |
5: 108,495,717 (GRCm39) |
R918H |
probably benign |
Het |
Poln |
A |
G |
5: 34,307,171 (GRCm39) |
V10A |
possibly damaging |
Het |
Polr1a |
T |
A |
6: 71,918,368 (GRCm39) |
M642K |
probably damaging |
Het |
Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
Rfc1 |
A |
T |
5: 65,460,379 (GRCm39) |
Y167* |
probably null |
Het |
Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
Sars2 |
C |
T |
7: 28,446,293 (GRCm39) |
T174I |
probably damaging |
Het |
Septin4 |
T |
C |
11: 87,480,560 (GRCm39) |
V398A |
possibly damaging |
Het |
Slc6a2 |
C |
T |
8: 93,719,476 (GRCm39) |
T397I |
probably benign |
Het |
Smarca4 |
G |
T |
9: 21,588,798 (GRCm39) |
R1200L |
probably benign |
Het |
Stx7 |
G |
T |
10: 24,055,046 (GRCm39) |
A63S |
probably damaging |
Het |
Sval3 |
G |
A |
6: 41,949,458 (GRCm39) |
V99I |
probably benign |
Het |
Syna |
A |
G |
5: 134,588,574 (GRCm39) |
I125T |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,150,604 (GRCm39) |
S1827P |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,916,749 (GRCm39) |
V33A |
possibly damaging |
Het |
Tpcn2 |
C |
T |
7: 144,820,359 (GRCm39) |
R373H |
possibly damaging |
Het |
Trpm1 |
A |
G |
7: 63,918,541 (GRCm39) |
D1511G |
possibly damaging |
Het |
Ttc3 |
C |
A |
16: 94,219,535 (GRCm39) |
R487S |
probably damaging |
Het |
Tubb3 |
T |
C |
8: 124,147,594 (GRCm39) |
S176P |
possibly damaging |
Het |
Zfp189 |
C |
G |
4: 49,530,180 (GRCm39) |
Q428E |
probably benign |
Het |
Zscan4d |
C |
T |
7: 10,799,942 (GRCm39) |
V316M |
probably benign |
Het |
|
Other mutations in Foxj2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00944:Foxj2
|
APN |
6 |
122,816,594 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01100:Foxj2
|
APN |
6 |
122,805,350 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02169:Foxj2
|
APN |
6 |
122,805,425 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02220:Foxj2
|
APN |
6 |
122,815,540 (GRCm39) |
splice site |
probably benign |
|
IGL02423:Foxj2
|
APN |
6 |
122,819,732 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03026:Foxj2
|
APN |
6 |
122,815,139 (GRCm39) |
missense |
probably benign |
0.38 |
IGL03198:Foxj2
|
APN |
6 |
122,809,966 (GRCm39) |
critical splice donor site |
probably null |
|
R0400:Foxj2
|
UTSW |
6 |
122,810,767 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1572:Foxj2
|
UTSW |
6 |
122,810,220 (GRCm39) |
missense |
probably benign |
0.00 |
R2063:Foxj2
|
UTSW |
6 |
122,817,200 (GRCm39) |
missense |
probably benign |
0.01 |
R2568:Foxj2
|
UTSW |
6 |
122,805,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R2877:Foxj2
|
UTSW |
6 |
122,819,791 (GRCm39) |
missense |
probably damaging |
0.96 |
R4745:Foxj2
|
UTSW |
6 |
122,814,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R4763:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
R4764:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
R4765:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
R4775:Foxj2
|
UTSW |
6 |
122,810,230 (GRCm39) |
missense |
probably benign |
0.27 |
R5056:Foxj2
|
UTSW |
6 |
122,810,833 (GRCm39) |
missense |
probably benign |
0.00 |
R5816:Foxj2
|
UTSW |
6 |
122,810,695 (GRCm39) |
missense |
probably benign |
|
R6254:Foxj2
|
UTSW |
6 |
122,815,098 (GRCm39) |
missense |
probably damaging |
0.98 |
R6265:Foxj2
|
UTSW |
6 |
122,805,133 (GRCm39) |
missense |
probably damaging |
0.99 |
R6540:Foxj2
|
UTSW |
6 |
122,810,202 (GRCm39) |
missense |
probably benign |
|
R6882:Foxj2
|
UTSW |
6 |
122,805,464 (GRCm39) |
critical splice donor site |
probably null |
|
R6981:Foxj2
|
UTSW |
6 |
122,819,798 (GRCm39) |
missense |
probably benign |
0.14 |
R6981:Foxj2
|
UTSW |
6 |
122,805,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R7295:Foxj2
|
UTSW |
6 |
122,817,190 (GRCm39) |
missense |
probably benign |
0.14 |
R7475:Foxj2
|
UTSW |
6 |
122,814,801 (GRCm39) |
missense |
probably benign |
0.14 |
R8075:Foxj2
|
UTSW |
6 |
122,815,055 (GRCm39) |
nonsense |
probably null |
|
R8287:Foxj2
|
UTSW |
6 |
122,805,226 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8511:Foxj2
|
UTSW |
6 |
122,808,404 (GRCm39) |
nonsense |
probably null |
|
R9498:Foxj2
|
UTSW |
6 |
122,819,792 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Foxj2
|
UTSW |
6 |
122,810,670 (GRCm39) |
missense |
probably benign |
|
Z1176:Foxj2
|
UTSW |
6 |
122,809,895 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGATGTAGAAGCCAGGTTCAAG -3'
(R):5'- GAAGAGAACATTACCACTTGACAG -3'
Sequencing Primer
(F):5'- CCAGGTTCAAGATGGCCAATG -3'
(R):5'- GGAGACATGCAGATCTCTTTACG -3'
|
Posted On |
2020-07-28 |