Incidental Mutation 'R5431:Ciita'
| ID |
428072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ciita
|
| Ensembl Gene |
ENSMUSG00000022504 |
| Gene Name |
class II transactivator |
| Synonyms |
C2ta, Gm9475 |
| MMRRC Submission |
042847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5431 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
10480059-10528418 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10523792 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1020
(R1020C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023147]
[ENSMUST00000184863]
[ENSMUST00000230146]
[ENSMUST00000230395]
[ENSMUST00000230450]
|
| AlphaFold |
P79621 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023147
AA Change: R1023C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023147
Gene: ENSMUSG00000022504
AA Change: R1023C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
216 |
230 |
N/A |
INTRINSIC |
|
Pfam:NACHT
|
362 |
533 |
1.8e-44 |
PFAM |
|
low complexity region
|
847 |
861 |
N/A |
INTRINSIC |
|
LRR
|
931 |
961 |
8.53e0 |
SMART |
|
LRR
|
962 |
989 |
7.37e-4 |
SMART |
|
LRR
|
991 |
1018 |
1.25e-6 |
SMART |
|
LRR
|
1019 |
1046 |
2.36e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184863
|
| SMART Domains |
Protein: ENSMUSP00000139108
Gene: ENSMUSG00000038055
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dexa_ind
|
1 |
95 |
4.6e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229906
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230146
AA Change: R1020C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230395
AA Change: R1100C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230450
AA Change: R999C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the NOD-like receptor protein family. This protein acts as a transcriptional coactivator and component of the enhanceosome complex to stimulate transcription of MHC class II genes in the adaptive immune response. This protein may also regulate the transcription of MHC class I genes. Mutations in the human gene have been linked to a rare immunodeficiency, bare lymphocyte syndrome, and homozygous knockout mice exhibit many features of this disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous targeted mutants are immunologically abnormal with extremely little MHC class II expression, greatly reduced serum IgG, and impaired T-dependent antigen responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
T |
C |
16: 88,707,538 (GRCm38) |
S124G |
possibly damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,270,848 (GRCm38) |
T27A |
probably benign |
Het |
| Aspg |
T |
A |
12: 112,123,412 (GRCm38) |
N461K |
probably benign |
Het |
| B4galnt3 |
T |
A |
6: 120,218,967 (GRCm38) |
T300S |
probably damaging |
Het |
| BC035044 |
A |
G |
6: 128,885,007 (GRCm38) |
|
probably benign |
Het |
| Bmp5 |
C |
T |
9: 75,893,709 (GRCm38) |
P374S |
probably damaging |
Het |
| C330018D20Rik |
A |
T |
18: 56,957,856 (GRCm38) |
F78L |
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,302,170 (GRCm38) |
S289T |
probably benign |
Het |
| Cerkl |
C |
T |
2: 79,341,335 (GRCm38) |
C393Y |
probably damaging |
Het |
| Dcaf13 |
C |
A |
15: 39,123,224 (GRCm38) |
D130E |
probably benign |
Het |
| Dnal4 |
C |
T |
15: 79,762,447 (GRCm38) |
G50R |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,971,568 (GRCm38) |
N109S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,676,554 (GRCm38) |
V2435A |
unknown |
Het |
| Fam178b |
T |
C |
1: 36,632,485 (GRCm38) |
E185G |
probably damaging |
Het |
| Fam227b |
C |
A |
2: 126,126,931 (GRCm38) |
L74F |
probably benign |
Het |
| Fam92b |
C |
A |
8: 120,167,303 (GRCm38) |
|
probably null |
Het |
| Fgfr4 |
G |
A |
13: 55,156,651 (GRCm38) |
V138I |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,456,384 (GRCm38) |
I2161V |
possibly damaging |
Het |
| Frmd5 |
T |
C |
2: 121,562,909 (GRCm38) |
N235S |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,445,147 (GRCm38) |
|
noncoding transcript |
Het |
| Ggt6 |
A |
G |
11: 72,437,738 (GRCm38) |
T355A |
possibly damaging |
Het |
| Gm14393 |
G |
A |
2: 175,063,876 (GRCm38) |
T41I |
probably damaging |
Het |
| Gpr151 |
A |
C |
18: 42,578,867 (GRCm38) |
S249A |
probably damaging |
Het |
| Gpr152 |
T |
A |
19: 4,143,747 (GRCm38) |
V429D |
probably benign |
Het |
| Grm7 |
G |
A |
6: 111,358,426 (GRCm38) |
M599I |
probably benign |
Het |
| Hdac4 |
T |
A |
1: 91,972,790 (GRCm38) |
R54* |
probably null |
Het |
| Ice1 |
A |
G |
13: 70,592,650 (GRCm38) |
L2146S |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,815,588 (GRCm38) |
V183I |
probably benign |
Het |
| Kel |
G |
A |
6: 41,698,420 (GRCm38) |
S299F |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,496,695 (GRCm38) |
I1016T |
possibly damaging |
Het |
| Lhx3 |
T |
C |
2: 26,201,118 (GRCm38) |
D395G |
probably damaging |
Het |
| Micu1 |
T |
C |
10: 59,750,521 (GRCm38) |
Y140H |
possibly damaging |
Het |
| Myt1l |
G |
A |
12: 29,832,332 (GRCm38) |
G509R |
unknown |
Het |
| Nbn |
C |
T |
4: 15,986,593 (GRCm38) |
H665Y |
probably benign |
Het |
| Pkhd1 |
G |
T |
1: 20,117,836 (GRCm38) |
T3416K |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 109,100,772 (GRCm38) |
F232S |
probably damaging |
Het |
| Pus7l |
T |
C |
15: 94,529,486 (GRCm38) |
N472D |
probably damaging |
Het |
| Rfx1 |
C |
T |
8: 84,082,720 (GRCm38) |
Q225* |
probably null |
Het |
| Rnase2a |
T |
C |
14: 51,255,563 (GRCm38) |
Y115C |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 29,109,812 (GRCm38) |
D386V |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,153,384 (GRCm38) |
|
probably benign |
Homo |
| Sgcz |
T |
A |
8: 37,639,984 (GRCm38) |
T125S |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,642,795 (GRCm38) |
G461R |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,740,957 (GRCm38) |
S36G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,597,185 (GRCm38) |
L31P |
probably damaging |
Het |
| Tenm3 |
C |
A |
8: 48,367,377 (GRCm38) |
E142* |
probably null |
Het |
| Tgfbr2 |
G |
T |
9: 116,131,601 (GRCm38) |
S94R |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,091,818 (GRCm38) |
I293T |
probably damaging |
Het |
| Wrap73 |
G |
A |
4: 154,145,274 (GRCm38) |
R34Q |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,780,065 (GRCm38) |
D511G |
possibly damaging |
Het |
| Zcchc11 |
T |
A |
4: 108,491,412 (GRCm38) |
I297N |
probably damaging |
Het |
|
| Other mutations in Ciita |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Ciita
|
APN |
16 |
10,510,727 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01830:Ciita
|
APN |
16 |
10,521,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02557:Ciita
|
APN |
16 |
10,512,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02634:Ciita
|
APN |
16 |
10,508,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03057:Ciita
|
APN |
16 |
10,520,959 (GRCm38) |
splice site |
probably benign |
|
|
IGL03403:Ciita
|
APN |
16 |
10,503,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
deshabille
|
UTSW |
16 |
10,509,207 (GRCm38) |
splice site |
probably null |
|
|
oddball
|
UTSW |
16 |
10,503,948 (GRCm38) |
critical splice donor site |
probably null |
|
|
sisal
|
UTSW |
16 |
10,513,288 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0001:Ciita
|
UTSW |
16 |
10,514,433 (GRCm38) |
splice site |
probably benign |
|
|
R0138:Ciita
|
UTSW |
16 |
10,512,270 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0583:Ciita
|
UTSW |
16 |
10,523,804 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1468:Ciita
|
UTSW |
16 |
10,513,288 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1468:Ciita
|
UTSW |
16 |
10,513,288 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1470:Ciita
|
UTSW |
16 |
10,514,468 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1470:Ciita
|
UTSW |
16 |
10,514,468 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1888:Ciita
|
UTSW |
16 |
10,511,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1888:Ciita
|
UTSW |
16 |
10,511,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2017:Ciita
|
UTSW |
16 |
10,511,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2072:Ciita
|
UTSW |
16 |
10,518,353 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2410:Ciita
|
UTSW |
16 |
10,510,704 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4779:Ciita
|
UTSW |
16 |
10,511,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5151:Ciita
|
UTSW |
16 |
10,523,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5233:Ciita
|
UTSW |
16 |
10,509,401 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5363:Ciita
|
UTSW |
16 |
10,512,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5821:Ciita
|
UTSW |
16 |
10,511,805 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6085:Ciita
|
UTSW |
16 |
10,512,165 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6088:Ciita
|
UTSW |
16 |
10,511,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6241:Ciita
|
UTSW |
16 |
10,511,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6354:Ciita
|
UTSW |
16 |
10,523,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6502:Ciita
|
UTSW |
16 |
10,511,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6553:Ciita
|
UTSW |
16 |
10,511,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6585:Ciita
|
UTSW |
16 |
10,511,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6916:Ciita
|
UTSW |
16 |
10,509,207 (GRCm38) |
splice site |
probably null |
|
|
R6937:Ciita
|
UTSW |
16 |
10,512,491 (GRCm38) |
splice site |
probably null |
|
|
R7007:Ciita
|
UTSW |
16 |
10,511,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7219:Ciita
|
UTSW |
16 |
10,512,257 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7326:Ciita
|
UTSW |
16 |
10,512,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8314:Ciita
|
UTSW |
16 |
10,510,988 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8772:Ciita
|
UTSW |
16 |
10,480,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9102:Ciita
|
UTSW |
16 |
10,506,701 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9213:Ciita
|
UTSW |
16 |
10,501,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9290:Ciita
|
UTSW |
16 |
10,508,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9296:Ciita
|
UTSW |
16 |
10,503,948 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9329:Ciita
|
UTSW |
16 |
10,506,707 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9418:Ciita
|
UTSW |
16 |
10,501,901 (GRCm38) |
nonsense |
probably null |
|
|
R9496:Ciita
|
UTSW |
16 |
10,480,145 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R9529:Ciita
|
UTSW |
16 |
10,510,776 (GRCm38) |
missense |
probably benign |
0.44 |
|
RF019:Ciita
|
UTSW |
16 |
10,506,747 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1176:Ciita
|
UTSW |
16 |
10,508,700 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTACTGCCCATGCTGTTG -3'
(R):5'- ACCTGAGGGCACTTCTGAAG -3'
Sequencing Primer
(F):5'- AAGTAGTGGCCTCAACATTCTGG -3'
(R):5'- ACTTCTGAAGGCTGGAGGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation