Incidental Mutation 'IGL03026:Rfx7'
ID |
408172 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rfx7
|
Ensembl Gene |
ENSMUSG00000037674 |
Gene Name |
regulatory factor X, 7 |
Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
IGL03026
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72526967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1386
(S1386P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
|
AlphaFold |
F8VPJ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093820
AA Change: S1386P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091338 Gene: ENSMUSG00000037674 AA Change: S1386P
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
PDB:2KW3|B
|
41 |
95 |
4e-11 |
PDB |
Pfam:RFX_DNA_binding
|
101 |
185 |
3.1e-39 |
PFAM |
low complexity region
|
260 |
270 |
N/A |
INTRINSIC |
low complexity region
|
304 |
321 |
N/A |
INTRINSIC |
low complexity region
|
356 |
370 |
N/A |
INTRINSIC |
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
low complexity region
|
947 |
965 |
N/A |
INTRINSIC |
low complexity region
|
1010 |
1018 |
N/A |
INTRINSIC |
low complexity region
|
1066 |
1081 |
N/A |
INTRINSIC |
low complexity region
|
1252 |
1263 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163401
AA Change: S1386P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127192 Gene: ENSMUSG00000037674 AA Change: S1386P
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
PDB:2KW3|B
|
41 |
95 |
4e-11 |
PDB |
Pfam:RFX_DNA_binding
|
105 |
183 |
2.9e-33 |
PFAM |
low complexity region
|
260 |
270 |
N/A |
INTRINSIC |
low complexity region
|
304 |
321 |
N/A |
INTRINSIC |
low complexity region
|
356 |
370 |
N/A |
INTRINSIC |
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
low complexity region
|
947 |
965 |
N/A |
INTRINSIC |
low complexity region
|
1010 |
1018 |
N/A |
INTRINSIC |
low complexity region
|
1066 |
1081 |
N/A |
INTRINSIC |
low complexity region
|
1252 |
1263 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183517
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185013
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
A |
G |
11: 100,410,516 (GRCm39) |
V154A |
possibly damaging |
Het |
Adcy4 |
T |
C |
14: 56,015,467 (GRCm39) |
Y481C |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 34,977,412 (GRCm39) |
V315A |
probably benign |
Het |
Atf7ip |
G |
A |
6: 136,582,380 (GRCm39) |
S1130N |
possibly damaging |
Het |
Ctss |
A |
G |
3: 95,446,141 (GRCm39) |
D87G |
probably benign |
Het |
Cwf19l2 |
A |
T |
9: 3,428,777 (GRCm39) |
K254N |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,179,647 (GRCm39) |
D727G |
probably damaging |
Het |
Dsg3 |
G |
A |
18: 20,670,029 (GRCm39) |
|
probably null |
Het |
Ehmt1 |
T |
C |
2: 24,742,746 (GRCm39) |
M478V |
probably benign |
Het |
Enam |
A |
T |
5: 88,651,158 (GRCm39) |
N889I |
probably benign |
Het |
Exo1 |
G |
T |
1: 175,736,003 (GRCm39) |
*148L |
probably null |
Het |
Fam133b |
G |
T |
5: 3,609,646 (GRCm39) |
|
probably benign |
Het |
Foxj2 |
G |
A |
6: 122,815,139 (GRCm39) |
A392T |
probably benign |
Het |
Gbp4 |
G |
T |
5: 105,267,866 (GRCm39) |
A460E |
possibly damaging |
Het |
H1f5 |
G |
A |
13: 21,964,117 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
T |
8: 107,605,242 (GRCm39) |
I483F |
probably benign |
Het |
Irak2 |
T |
A |
6: 113,653,612 (GRCm39) |
V260E |
probably damaging |
Het |
Kcnj8 |
T |
C |
6: 142,512,199 (GRCm39) |
|
probably null |
Het |
Lama5 |
A |
G |
2: 179,837,760 (GRCm39) |
V936A |
probably benign |
Het |
Lmo7 |
C |
T |
14: 102,166,769 (GRCm39) |
|
probably benign |
Het |
Morc3 |
T |
A |
16: 93,659,612 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
C |
7: 141,226,414 (GRCm39) |
|
probably benign |
Het |
Nkx2-2 |
T |
C |
2: 147,027,742 (GRCm39) |
Y66C |
probably damaging |
Het |
Oaz1 |
G |
A |
10: 80,664,634 (GRCm39) |
|
probably benign |
Het |
Or2y1f |
A |
T |
11: 49,184,285 (GRCm39) |
I46F |
probably damaging |
Het |
Or6c38 |
G |
A |
10: 128,929,057 (GRCm39) |
A262V |
possibly damaging |
Het |
Or6c65 |
A |
T |
10: 129,603,910 (GRCm39) |
M182L |
probably benign |
Het |
Pkd2 |
A |
T |
5: 104,642,753 (GRCm39) |
|
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,792,349 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
C |
A |
2: 146,302,695 (GRCm39) |
|
probably benign |
Het |
Ric1 |
T |
G |
19: 29,577,233 (GRCm39) |
W1046G |
probably benign |
Het |
Rrp12 |
C |
A |
19: 41,861,436 (GRCm39) |
R957L |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,506,442 (GRCm39) |
I1482M |
probably damaging |
Het |
Sema3b |
T |
C |
9: 107,479,262 (GRCm39) |
N236S |
probably damaging |
Het |
Skint6 |
T |
A |
4: 112,848,441 (GRCm39) |
|
probably null |
Het |
Slfn5 |
T |
C |
11: 82,847,387 (GRCm39) |
Y91H |
probably benign |
Het |
Sptbn2 |
T |
A |
19: 4,774,261 (GRCm39) |
|
probably null |
Het |
Szt2 |
A |
G |
4: 118,249,046 (GRCm39) |
L546P |
probably benign |
Het |
Tas1r3 |
A |
G |
4: 155,946,300 (GRCm39) |
|
probably benign |
Het |
Trim75 |
A |
G |
8: 65,436,438 (GRCm39) |
V4A |
probably benign |
Het |
Usp19 |
T |
C |
9: 108,370,344 (GRCm39) |
L56P |
probably damaging |
Het |
Vmn1r181 |
T |
G |
7: 23,684,000 (GRCm39) |
I155S |
possibly damaging |
Het |
Vmn2r43 |
G |
T |
7: 8,258,096 (GRCm39) |
D372E |
probably benign |
Het |
Vstm2b |
C |
A |
7: 40,551,945 (GRCm39) |
S99* |
probably null |
Het |
Wdr11 |
A |
G |
7: 129,226,060 (GRCm39) |
D735G |
probably damaging |
Het |
Wee2 |
T |
A |
6: 40,438,915 (GRCm39) |
M346K |
probably benign |
Het |
Zap70 |
A |
G |
1: 36,818,798 (GRCm39) |
K371R |
possibly damaging |
Het |
Zfp990 |
A |
T |
4: 145,263,680 (GRCm39) |
H226L |
possibly damaging |
Het |
|
Other mutations in Rfx7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Rfx7
|
APN |
9 |
72,514,972 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00323:Rfx7
|
APN |
9 |
72,524,702 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00920:Rfx7
|
APN |
9 |
72,500,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01317:Rfx7
|
APN |
9 |
72,525,818 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01405:Rfx7
|
APN |
9 |
72,517,626 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01585:Rfx7
|
APN |
9 |
72,524,343 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02118:Rfx7
|
APN |
9 |
72,524,486 (GRCm39) |
missense |
probably benign |
|
IGL02205:Rfx7
|
APN |
9 |
72,514,932 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02608:Rfx7
|
APN |
9 |
72,524,576 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02629:Rfx7
|
APN |
9 |
72,526,541 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02963:Rfx7
|
APN |
9 |
72,524,898 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03033:Rfx7
|
APN |
9 |
72,440,271 (GRCm39) |
splice site |
probably benign |
|
IGL03212:Rfx7
|
APN |
9 |
72,526,443 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03221:Rfx7
|
APN |
9 |
72,526,088 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4431001:Rfx7
|
UTSW |
9 |
72,525,253 (GRCm39) |
missense |
probably benign |
|
R0365:Rfx7
|
UTSW |
9 |
72,527,118 (GRCm39) |
missense |
probably benign |
0.15 |
R0449:Rfx7
|
UTSW |
9 |
72,517,586 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0464:Rfx7
|
UTSW |
9 |
72,525,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R0746:Rfx7
|
UTSW |
9 |
72,526,388 (GRCm39) |
missense |
probably benign |
0.00 |
R1195:Rfx7
|
UTSW |
9 |
72,525,228 (GRCm39) |
missense |
probably damaging |
0.99 |
R1195:Rfx7
|
UTSW |
9 |
72,525,228 (GRCm39) |
missense |
probably damaging |
0.99 |
R1195:Rfx7
|
UTSW |
9 |
72,525,228 (GRCm39) |
missense |
probably damaging |
0.99 |
R1263:Rfx7
|
UTSW |
9 |
72,484,329 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1277:Rfx7
|
UTSW |
9 |
72,500,594 (GRCm39) |
missense |
probably benign |
0.32 |
R1330:Rfx7
|
UTSW |
9 |
72,524,547 (GRCm39) |
missense |
probably benign |
0.00 |
R1371:Rfx7
|
UTSW |
9 |
72,526,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R1605:Rfx7
|
UTSW |
9 |
72,519,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1802:Rfx7
|
UTSW |
9 |
72,526,919 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1903:Rfx7
|
UTSW |
9 |
72,524,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Rfx7
|
UTSW |
9 |
72,524,967 (GRCm39) |
missense |
probably benign |
0.01 |
R2050:Rfx7
|
UTSW |
9 |
72,524,748 (GRCm39) |
missense |
probably benign |
0.01 |
R2190:Rfx7
|
UTSW |
9 |
72,525,201 (GRCm39) |
missense |
probably benign |
0.00 |
R2208:Rfx7
|
UTSW |
9 |
72,525,246 (GRCm39) |
missense |
probably benign |
0.00 |
R2921:Rfx7
|
UTSW |
9 |
72,524,946 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3978:Rfx7
|
UTSW |
9 |
72,522,393 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4231:Rfx7
|
UTSW |
9 |
72,526,672 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4243:Rfx7
|
UTSW |
9 |
72,499,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4244:Rfx7
|
UTSW |
9 |
72,499,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4245:Rfx7
|
UTSW |
9 |
72,499,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4261:Rfx7
|
UTSW |
9 |
72,523,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4844:Rfx7
|
UTSW |
9 |
72,500,524 (GRCm39) |
nonsense |
probably null |
|
R4902:Rfx7
|
UTSW |
9 |
72,524,573 (GRCm39) |
missense |
probably benign |
0.05 |
R5432:Rfx7
|
UTSW |
9 |
72,500,584 (GRCm39) |
missense |
probably benign |
0.35 |
R5627:Rfx7
|
UTSW |
9 |
72,440,066 (GRCm39) |
start gained |
probably benign |
|
R5900:Rfx7
|
UTSW |
9 |
72,524,538 (GRCm39) |
missense |
probably benign |
|
R5991:Rfx7
|
UTSW |
9 |
72,526,820 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6273:Rfx7
|
UTSW |
9 |
72,524,279 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6306:Rfx7
|
UTSW |
9 |
72,524,237 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6324:Rfx7
|
UTSW |
9 |
72,525,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R6437:Rfx7
|
UTSW |
9 |
72,525,768 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6860:Rfx7
|
UTSW |
9 |
72,524,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R6998:Rfx7
|
UTSW |
9 |
72,525,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R7255:Rfx7
|
UTSW |
9 |
72,527,110 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7336:Rfx7
|
UTSW |
9 |
72,500,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R7501:Rfx7
|
UTSW |
9 |
72,524,054 (GRCm39) |
missense |
probably benign |
|
R7857:Rfx7
|
UTSW |
9 |
72,500,605 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7946:Rfx7
|
UTSW |
9 |
72,524,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R8345:Rfx7
|
UTSW |
9 |
72,524,973 (GRCm39) |
missense |
probably benign |
|
R8354:Rfx7
|
UTSW |
9 |
72,526,731 (GRCm39) |
missense |
probably benign |
|
R8553:Rfx7
|
UTSW |
9 |
72,519,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R8726:Rfx7
|
UTSW |
9 |
72,500,505 (GRCm39) |
splice site |
probably benign |
|
R8766:Rfx7
|
UTSW |
9 |
72,524,021 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8788:Rfx7
|
UTSW |
9 |
72,524,795 (GRCm39) |
missense |
probably benign |
|
R8805:Rfx7
|
UTSW |
9 |
72,524,316 (GRCm39) |
missense |
probably benign |
|
R8897:Rfx7
|
UTSW |
9 |
72,525,123 (GRCm39) |
missense |
probably benign |
0.00 |
R9198:Rfx7
|
UTSW |
9 |
72,524,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R9497:Rfx7
|
UTSW |
9 |
72,526,423 (GRCm39) |
missense |
probably benign |
0.17 |
R9589:Rfx7
|
UTSW |
9 |
72,525,122 (GRCm39) |
missense |
possibly damaging |
0.59 |
Z1177:Rfx7
|
UTSW |
9 |
72,522,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |