Incidental Mutation 'R6368:Rfx3'
ID |
512823 |
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 |
044518-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6368 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
27739121-27988566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 27746009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 674
(L674Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046898]
[ENSMUST00000165566]
[ENSMUST00000172907]
[ENSMUST00000173863]
[ENSMUST00000174850]
|
AlphaFold |
P48381 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046898
AA Change: L674Q
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038760 Gene: ENSMUSG00000040929 AA Change: L674Q
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 |
probably benign
Transcript: ENSMUST00000165566
AA Change: L699Q
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000126313 Gene: ENSMUSG00000040929 AA Change: L699Q
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 |
noncoding transcript
Transcript: ENSMUST00000172498
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172907
AA Change: L699Q
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000134141 Gene: ENSMUSG00000040929 AA Change: L699Q
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 |
probably benign
Transcript: ENSMUST00000173863
|
SMART Domains |
Protein: ENSMUSP00000133367 Gene: ENSMUSG00000040929
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 |
probably benign
Transcript: ENSMUST00000174850
AA Change: L699Q
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000133461 Gene: ENSMUSG00000040929 AA Change: L699Q
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
C |
A |
9: 55,897,416 (GRCm39) |
E272D |
possibly damaging |
Het |
Abi2 |
A |
G |
1: 60,492,810 (GRCm39) |
T158A |
possibly damaging |
Het |
Acacb |
T |
C |
5: 114,354,884 (GRCm39) |
S1221P |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,069,578 (GRCm39) |
D370G |
probably benign |
Het |
Apeh |
A |
G |
9: 107,964,442 (GRCm39) |
I487T |
probably damaging |
Het |
Arid1b |
C |
A |
17: 5,382,808 (GRCm39) |
N1297K |
possibly damaging |
Het |
Ascc3 |
G |
A |
10: 50,576,081 (GRCm39) |
G779S |
probably damaging |
Het |
Atp7b |
A |
C |
8: 22,510,771 (GRCm39) |
|
probably null |
Het |
Bsn |
C |
T |
9: 107,988,513 (GRCm39) |
|
probably benign |
Het |
Caps2 |
C |
T |
10: 112,030,873 (GRCm39) |
Q268* |
probably null |
Het |
Cnfn |
C |
T |
7: 25,067,386 (GRCm39) |
|
probably null |
Het |
Cr2 |
A |
G |
1: 194,850,780 (GRCm39) |
S229P |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,435,806 (GRCm39) |
Y1050C |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,480,934 (GRCm39) |
E307G |
probably damaging |
Het |
Cyb5r3 |
A |
C |
15: 83,044,325 (GRCm39) |
Y182D |
possibly damaging |
Het |
Dclre1a |
A |
T |
19: 56,535,223 (GRCm39) |
H120Q |
probably benign |
Het |
Ddx6 |
T |
C |
9: 44,547,073 (GRCm39) |
I457T |
probably damaging |
Het |
E2f1 |
A |
T |
2: 154,406,396 (GRCm39) |
H93Q |
possibly damaging |
Het |
Fam186a |
T |
C |
15: 99,841,198 (GRCm39) |
K1682R |
possibly damaging |
Het |
Farsb |
A |
G |
1: 78,443,602 (GRCm39) |
|
probably null |
Het |
Flii |
A |
T |
11: 60,611,962 (GRCm39) |
L347Q |
probably damaging |
Het |
Galntl6 |
T |
G |
8: 59,364,475 (GRCm39) |
T12P |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm21680 |
T |
C |
5: 26,174,034 (GRCm39) |
N190S |
probably damaging |
Het |
Ifit1bl2 |
T |
C |
19: 34,596,525 (GRCm39) |
S364G |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,400,345 (GRCm39) |
I234T |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,526,945 (GRCm39) |
C356R |
probably damaging |
Het |
Kel |
A |
T |
6: 41,665,785 (GRCm39) |
C174* |
probably null |
Het |
Krt16 |
T |
A |
11: 100,137,502 (GRCm39) |
D401V |
probably damaging |
Het |
Ltb4r1 |
A |
C |
14: 56,005,200 (GRCm39) |
I168L |
probably benign |
Het |
Luzp1 |
T |
A |
4: 136,269,091 (GRCm39) |
M438K |
probably benign |
Het |
Mtf1 |
C |
T |
4: 124,718,145 (GRCm39) |
T281M |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,832,231 (GRCm39) |
S2587T |
probably benign |
Het |
Or13a21 |
G |
T |
7: 139,999,580 (GRCm39) |
Y35* |
probably null |
Het |
Or1ad1 |
T |
A |
11: 50,875,613 (GRCm39) |
F28L |
probably benign |
Het |
Or4f58 |
A |
T |
2: 111,851,896 (GRCm39) |
I101N |
probably damaging |
Het |
Or7e169 |
T |
C |
9: 19,757,705 (GRCm39) |
D70G |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,746,581 (GRCm39) |
F1221Y |
probably benign |
Het |
Pnldc1 |
A |
T |
17: 13,124,751 (GRCm39) |
N90K |
probably damaging |
Het |
Prickle2 |
A |
T |
6: 92,397,218 (GRCm39) |
L169Q |
probably damaging |
Het |
Ralgps2 |
A |
T |
1: 156,712,144 (GRCm39) |
L147I |
probably damaging |
Het |
Rpl3 |
C |
A |
15: 79,966,745 (GRCm39) |
L14F |
probably damaging |
Het |
Rrbp1 |
C |
T |
2: 143,831,475 (GRCm39) |
G231R |
probably damaging |
Het |
Sema3d |
C |
T |
5: 12,620,980 (GRCm39) |
L529F |
probably damaging |
Het |
Slain1 |
A |
T |
14: 103,894,391 (GRCm39) |
T193S |
probably benign |
Het |
Slc2a6 |
G |
T |
2: 26,914,599 (GRCm39) |
Q256K |
possibly damaging |
Het |
Slk |
A |
G |
19: 47,608,622 (GRCm39) |
E525G |
possibly damaging |
Het |
Spsb4 |
G |
T |
9: 96,826,698 (GRCm39) |
Q252K |
probably benign |
Het |
Taf1b |
A |
G |
12: 24,608,256 (GRCm39) |
T552A |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,802,945 (GRCm39) |
|
probably null |
Het |
Tph2 |
T |
C |
10: 115,015,231 (GRCm39) |
H177R |
probably damaging |
Het |
Ttll1 |
A |
G |
15: 83,373,818 (GRCm39) |
S332P |
probably damaging |
Het |
Twf2 |
T |
G |
9: 106,090,032 (GRCm39) |
N128K |
probably benign |
Het |
Vegfc |
T |
A |
8: 54,634,265 (GRCm39) |
C315S |
probably damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,790,889 (GRCm39) |
K136N |
probably benign |
Het |
Wnk2 |
T |
C |
13: 49,214,814 (GRCm39) |
E496G |
probably damaging |
Het |
Zfp148 |
C |
A |
16: 33,317,568 (GRCm39) |
Q705K |
probably damaging |
Het |
Zw10 |
C |
T |
9: 48,984,535 (GRCm39) |
A539V |
probably 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 |
R0838:Rfx3
|
UTSW |
19 |
27,827,367 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
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'- GGAAAACTCTGCTTTCCTGC -3'
(R):5'- AATTCCCATGAGAGGAAAGCC -3'
Sequencing Primer
(F):5'- GGAAAACTCTGCTTTCCTGCTGTTAG -3'
(R):5'- GAAAGCCTATGAGTCCTCCCGTAG -3'
|
Posted On |
2018-04-27 |