Incidental Mutation 'R0838:Rfx3'
ID |
78074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfx3
|
Ensembl Gene |
ENSMUSG00000040929 |
Gene Name |
regulatory factor X, 3 (influences HLA class II expression) |
Synonyms |
MRFX3, C230093O12Rik |
MMRRC Submission |
039017-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0838 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
27739121-27988566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 27827367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 73
(R73Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133367
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046898]
[ENSMUST00000165566]
[ENSMUST00000172907]
[ENSMUST00000173863]
[ENSMUST00000174850]
|
AlphaFold |
P48381 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046898
AA Change: R73Q
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000038760 Gene: ENSMUSG00000040929 AA Change: R73Q
Domain | Start | End | E-Value | Type |
Pfam:RFX1_trans_act
|
1 |
140 |
6.3e-58 |
PFAM |
Pfam:RFX_DNA_binding
|
150 |
235 |
6.9e-41 |
PFAM |
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
internal_repeat_1
|
326 |
414 |
1.39e-5 |
PROSPERO |
internal_repeat_1
|
439 |
527 |
1.39e-5 |
PROSPERO |
low complexity region
|
649 |
664 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165566
AA Change: R73Q
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000126313 Gene: ENSMUSG00000040929 AA Change: R73Q
Domain | Start | End | E-Value | Type |
Pfam:RFX1_trans_act
|
4 |
138 |
9.7e-38 |
PFAM |
Pfam:RFX_DNA_binding
|
181 |
258 |
6.2e-36 |
PFAM |
low complexity region
|
299 |
308 |
N/A |
INTRINSIC |
internal_repeat_1
|
351 |
439 |
1.82e-5 |
PROSPERO |
internal_repeat_1
|
464 |
552 |
1.82e-5 |
PROSPERO |
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172907
AA Change: R73Q
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134141 Gene: ENSMUSG00000040929 AA Change: R73Q
Domain | Start | End | E-Value | Type |
Pfam:RFX1_trans_act
|
1 |
140 |
9.4e-58 |
PFAM |
Pfam:RFX_DNA_binding
|
175 |
260 |
5.2e-41 |
PFAM |
low complexity region
|
299 |
308 |
N/A |
INTRINSIC |
internal_repeat_1
|
351 |
439 |
1.82e-5 |
PROSPERO |
internal_repeat_1
|
464 |
552 |
1.82e-5 |
PROSPERO |
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173161
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173863
AA Change: R73Q
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133367 Gene: ENSMUSG00000040929 AA Change: R73Q
Domain | Start | End | E-Value | Type |
Pfam:RFX1_trans_act
|
1 |
140 |
3.3e-58 |
PFAM |
Pfam:RFX_DNA_binding
|
175 |
246 |
3.7e-24 |
PFAM |
low complexity region
|
285 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174850
AA Change: R73Q
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133461 Gene: ENSMUSG00000040929 AA Change: R73Q
Domain | Start | End | E-Value | Type |
Pfam:RFX1_trans_act
|
1 |
140 |
9.4e-58 |
PFAM |
Pfam:RFX_DNA_binding
|
175 |
260 |
5.2e-41 |
PFAM |
low complexity region
|
299 |
308 |
N/A |
INTRINSIC |
internal_repeat_1
|
351 |
439 |
1.82e-5 |
PROSPERO |
internal_repeat_1
|
464 |
552 |
1.82e-5 |
PROSPERO |
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3267 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.3%
|
Validation Efficiency |
100% (56/56) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013] PHENOTYPE: Homozygous null mice display embryonic and perinatal lethality, impaired development of cilia on the embryonic node, abnormal left-right patterning, meso- and dextrocardia, and situs inversus in surviving adults. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
T |
A |
7: 130,963,535 (GRCm39) |
M53L |
probably damaging |
Het |
Adamts6 |
A |
G |
13: 104,550,297 (GRCm39) |
N638D |
possibly damaging |
Het |
Amy2b |
T |
C |
3: 113,058,317 (GRCm39) |
|
noncoding transcript |
Het |
Ap5s1 |
G |
A |
2: 131,053,351 (GRCm39) |
R45K |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,049,619 (GRCm39) |
Y994H |
probably damaging |
Het |
Arrdc3 |
A |
T |
13: 81,037,366 (GRCm39) |
|
probably benign |
Het |
Bard1 |
G |
A |
1: 71,069,812 (GRCm39) |
T722M |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,350,285 (GRCm39) |
Y89C |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,938,289 (GRCm39) |
S59P |
probably damaging |
Het |
Chit1 |
T |
A |
1: 134,071,075 (GRCm39) |
C51* |
probably null |
Het |
Cilp2 |
G |
T |
8: 70,334,369 (GRCm39) |
H876Q |
probably benign |
Het |
Cyld |
A |
G |
8: 89,467,978 (GRCm39) |
E722G |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dedd2 |
T |
C |
7: 24,910,612 (GRCm39) |
E188G |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,950,930 (GRCm39) |
W2898R |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,343,727 (GRCm39) |
T473A |
probably damaging |
Het |
Fam228a |
T |
A |
12: 4,785,002 (GRCm39) |
H43L |
possibly damaging |
Het |
Fkbp15 |
G |
T |
4: 62,242,363 (GRCm39) |
H530N |
probably damaging |
Het |
Gga1 |
C |
T |
15: 78,776,118 (GRCm39) |
S387L |
probably damaging |
Het |
Gm4868 |
A |
G |
5: 125,925,687 (GRCm39) |
|
noncoding transcript |
Het |
Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
Itgb4 |
A |
C |
11: 115,888,988 (GRCm39) |
|
probably benign |
Het |
Jag1 |
G |
A |
2: 136,935,198 (GRCm39) |
T388I |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,095,514 (GRCm39) |
D551G |
probably damaging |
Het |
Lrp2bp |
A |
G |
8: 46,478,161 (GRCm39) |
D270G |
possibly damaging |
Het |
Map3k19 |
C |
A |
1: 127,751,696 (GRCm39) |
V552F |
probably benign |
Het |
Mixl1 |
A |
T |
1: 180,524,365 (GRCm39) |
D71E |
probably benign |
Het |
Myocd |
A |
G |
11: 65,069,758 (GRCm39) |
I694T |
probably benign |
Het |
Nadk2 |
T |
A |
15: 9,091,322 (GRCm39) |
S198T |
probably benign |
Het |
Npepps |
A |
T |
11: 97,158,518 (GRCm39) |
|
probably benign |
Het |
Nt5c1b |
C |
T |
12: 10,425,071 (GRCm39) |
Q206* |
probably null |
Het |
Or51b17 |
T |
A |
7: 103,542,622 (GRCm39) |
I107F |
probably benign |
Het |
Orm1 |
A |
G |
4: 63,263,394 (GRCm39) |
Y69C |
probably damaging |
Het |
Plscr4 |
T |
A |
9: 92,353,813 (GRCm39) |
|
probably benign |
Het |
Pon1 |
G |
A |
6: 5,175,758 (GRCm39) |
T188I |
possibly damaging |
Het |
Ppm1a |
T |
A |
12: 72,831,094 (GRCm39) |
H206Q |
probably benign |
Het |
Prl8a1 |
G |
A |
13: 27,758,008 (GRCm39) |
R234C |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,544,421 (GRCm39) |
V1466A |
probably benign |
Het |
Sec24d |
T |
A |
3: 123,099,485 (GRCm39) |
F319L |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,694,067 (GRCm39) |
S123P |
possibly damaging |
Het |
Slc1a6 |
A |
T |
10: 78,632,056 (GRCm39) |
D294V |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,736,083 (GRCm39) |
D38E |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,890,282 (GRCm39) |
S513P |
possibly damaging |
Het |
Stard3nl |
A |
G |
13: 19,556,756 (GRCm39) |
|
probably null |
Het |
Stard9 |
A |
G |
2: 120,531,323 (GRCm39) |
T2527A |
probably damaging |
Het |
Sult3a1 |
C |
T |
10: 33,755,284 (GRCm39) |
P283L |
probably damaging |
Het |
Tgtp1 |
A |
G |
11: 48,877,970 (GRCm39) |
V245A |
probably benign |
Het |
Txndc16 |
T |
C |
14: 45,402,876 (GRCm39) |
|
probably benign |
Het |
Zdhhc8 |
A |
G |
16: 18,042,430 (GRCm39) |
L590S |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,111,220 (GRCm39) |
C637S |
possibly damaging |
Het |
Zfp366 |
A |
G |
13: 99,365,118 (GRCm39) |
E93G |
possibly damaging |
Het |
Zfp69 |
T |
C |
4: 120,788,478 (GRCm39) |
N279S |
probably benign |
Het |
Zscan10 |
T |
C |
17: 23,829,008 (GRCm39) |
S407P |
possibly damaging |
Het |
|
Other mutations in Rfx3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00548:Rfx3
|
APN |
19 |
27,783,586 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00588:Rfx3
|
APN |
19 |
27,803,476 (GRCm39) |
nonsense |
probably null |
|
IGL01408:Rfx3
|
APN |
19 |
27,746,050 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01937:Rfx3
|
APN |
19 |
27,808,129 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02668:Rfx3
|
APN |
19 |
27,793,014 (GRCm39) |
splice site |
probably benign |
|
IGL02679:Rfx3
|
APN |
19 |
27,827,137 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0267:Rfx3
|
UTSW |
19 |
27,771,188 (GRCm39) |
missense |
probably benign |
0.00 |
R0336:Rfx3
|
UTSW |
19 |
27,783,662 (GRCm39) |
missense |
probably benign |
0.00 |
R0967:Rfx3
|
UTSW |
19 |
27,783,751 (GRCm39) |
splice site |
probably benign |
|
R1102:Rfx3
|
UTSW |
19 |
27,845,000 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1507:Rfx3
|
UTSW |
19 |
27,745,913 (GRCm39) |
missense |
probably benign |
0.00 |
R2172:Rfx3
|
UTSW |
19 |
27,792,894 (GRCm39) |
nonsense |
probably null |
|
R2844:Rfx3
|
UTSW |
19 |
27,784,186 (GRCm39) |
splice site |
probably benign |
|
R2960:Rfx3
|
UTSW |
19 |
27,878,211 (GRCm39) |
nonsense |
probably null |
|
R4291:Rfx3
|
UTSW |
19 |
27,777,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R4952:Rfx3
|
UTSW |
19 |
27,808,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R5198:Rfx3
|
UTSW |
19 |
27,808,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R5451:Rfx3
|
UTSW |
19 |
27,827,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Rfx3
|
UTSW |
19 |
27,779,780 (GRCm39) |
critical splice donor site |
probably null |
|
R5641:Rfx3
|
UTSW |
19 |
27,771,008 (GRCm39) |
splice site |
probably null |
|
R5663:Rfx3
|
UTSW |
19 |
27,771,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R5899:Rfx3
|
UTSW |
19 |
27,808,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R6049:Rfx3
|
UTSW |
19 |
27,779,795 (GRCm39) |
missense |
probably damaging |
0.99 |
R6368:Rfx3
|
UTSW |
19 |
27,746,009 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7131:Rfx3
|
UTSW |
19 |
27,746,028 (GRCm39) |
nonsense |
probably null |
|
R7273:Rfx3
|
UTSW |
19 |
27,779,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7593:Rfx3
|
UTSW |
19 |
27,827,139 (GRCm39) |
missense |
probably benign |
0.00 |
R7814:Rfx3
|
UTSW |
19 |
27,803,470 (GRCm39) |
missense |
probably benign |
0.01 |
R7815:Rfx3
|
UTSW |
19 |
27,803,448 (GRCm39) |
missense |
probably benign |
0.00 |
R8458:Rfx3
|
UTSW |
19 |
27,771,072 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8995:Rfx3
|
UTSW |
19 |
27,783,725 (GRCm39) |
missense |
probably benign |
0.14 |
R9147:Rfx3
|
UTSW |
19 |
27,878,207 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9148:Rfx3
|
UTSW |
19 |
27,878,207 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9310:Rfx3
|
UTSW |
19 |
27,827,329 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Rfx3
|
UTSW |
19 |
27,814,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGCTGATGAGTTGTCCTCCTG -3'
(R):5'- GGCGGCACAGTCATTAAGTGTAGAG -3'
Sequencing Primer
(F):5'- GTGACGCCCATCTGAATCC -3'
(R):5'- GATGATCACTAGTCATCCAGGG -3'
|
Posted On |
2013-10-16 |