Incidental Mutation 'R4513:Nfkbiz'
| ID |
334536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfkbiz
|
| Ensembl Gene |
ENSMUSG00000035356 |
| Gene Name |
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta |
| Synonyms |
Mail |
| MMRRC Submission |
041759-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.638)
|
| Stock # |
R4513 (G1)
|
| Quality Score |
144 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55631740-55659018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55637204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 488
(H488R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036273]
[ENSMUST00000096026]
[ENSMUST00000114457]
[ENSMUST00000114458]
|
| AlphaFold |
Q9EST8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036273
AA Change: H488R
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041173
Gene: ENSMUSG00000035356
AA Change: H488R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
315 |
N/A |
INTRINSIC |
|
ANK
|
453 |
482 |
1.29e2 |
SMART |
|
ANK
|
489 |
518 |
4.93e0 |
SMART |
|
ANK
|
522 |
551 |
1.63e0 |
SMART |
|
ANK
|
561 |
591 |
7.89e1 |
SMART |
|
ANK
|
622 |
651 |
1.17e-1 |
SMART |
|
ANK
|
658 |
691 |
2.92e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096026
AA Change: H389R
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093726
Gene: ENSMUSG00000035356
AA Change: H389R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
190 |
216 |
N/A |
INTRINSIC |
|
ANK
|
354 |
383 |
1.29e2 |
SMART |
|
ANK
|
390 |
419 |
4.93e0 |
SMART |
|
ANK
|
423 |
452 |
1.63e0 |
SMART |
|
ANK
|
462 |
492 |
7.89e1 |
SMART |
|
ANK
|
523 |
552 |
1.17e-1 |
SMART |
|
ANK
|
559 |
592 |
2.92e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114457
AA Change: H389R
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110101
Gene: ENSMUSG00000035356
AA Change: H389R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
190 |
216 |
N/A |
INTRINSIC |
|
ANK
|
354 |
383 |
1.29e2 |
SMART |
|
ANK
|
390 |
419 |
4.93e0 |
SMART |
|
ANK
|
423 |
452 |
1.63e0 |
SMART |
|
ANK
|
462 |
492 |
7.89e1 |
SMART |
|
ANK
|
523 |
552 |
1.17e-1 |
SMART |
|
ANK
|
559 |
592 |
2.92e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114458
AA Change: H488R
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110102
Gene: ENSMUSG00000035356
AA Change: H488R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
315 |
N/A |
INTRINSIC |
|
ANK
|
453 |
482 |
1.29e2 |
SMART |
|
ANK
|
489 |
518 |
4.93e0 |
SMART |
|
ANK
|
522 |
551 |
1.63e0 |
SMART |
|
ANK
|
561 |
591 |
7.89e1 |
SMART |
|
ANK
|
622 |
651 |
1.17e-1 |
SMART |
|
ANK
|
658 |
691 |
2.92e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231463
|
| Meta Mutation Damage Score |
0.0901 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
| 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 ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene may lead to background sensitive prenatal lethality and results in abnormal cytokine secretion, higher IgE levels, ocular surface and perioral skin inflammation accompanied by hair loss, and severe atopic dermatitis-like skin lesions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,717,947 (GRCm39) |
I320V |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,842,787 (GRCm39) |
V45A |
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,465,242 (GRCm39) |
S312T |
probably damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cfap96 |
G |
T |
8: 46,421,175 (GRCm39) |
T116K |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,145,943 (GRCm39) |
I966N |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,327,168 (GRCm39) |
S952R |
probably null |
Het |
| Dop1a |
G |
A |
9: 86,402,612 (GRCm39) |
E1271K |
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,880,460 (GRCm39) |
|
probably benign |
Het |
| Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
| Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
| Guf1 |
T |
C |
5: 69,719,005 (GRCm39) |
V230A |
probably benign |
Het |
| Hsd17b14 |
C |
T |
7: 45,212,339 (GRCm39) |
L124F |
probably benign |
Het |
| Id3 |
G |
T |
4: 135,871,669 (GRCm39) |
|
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,361 (GRCm39) |
M782T |
possibly damaging |
Het |
| Lsm12 |
T |
C |
11: 102,057,909 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
A |
13: 99,580,741 (GRCm39) |
D117V |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,752,238 (GRCm39) |
T807A |
probably damaging |
Het |
| Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,854,174 (GRCm39) |
I1257N |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,880,456 (GRCm39) |
Y459H |
probably damaging |
Het |
| Mkln1 |
T |
C |
6: 31,410,093 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
T |
17: 35,249,664 (GRCm39) |
I627N |
possibly damaging |
Het |
| Nrg1 |
G |
T |
8: 32,967,105 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,782 (GRCm39) |
M82V |
probably benign |
Het |
| Or51q1 |
T |
C |
7: 103,628,648 (GRCm39) |
V89A |
probably benign |
Het |
| Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,986 (GRCm39) |
Y93F |
probably benign |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,107,034 (GRCm39) |
C910S |
probably damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,196 (GRCm39) |
E357G |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,718 (GRCm39) |
M242V |
probably benign |
Het |
| Rbm11 |
T |
C |
16: 75,393,475 (GRCm39) |
F57S |
probably damaging |
Het |
| Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,599,382 (GRCm39) |
V719A |
unknown |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Slc29a1 |
A |
C |
17: 45,899,992 (GRCm39) |
Y232* |
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| Spanxn4 |
A |
T |
12: 62,734,886 (GRCm39) |
|
noncoding transcript |
Het |
| Spata31d1d |
T |
C |
13: 59,876,368 (GRCm39) |
Q389R |
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,706,231 (GRCm39) |
|
probably null |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Tle2 |
A |
G |
10: 81,423,394 (GRCm39) |
D491G |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,443,468 (GRCm39) |
V215A |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,667,548 (GRCm39) |
T7A |
probably benign |
Het |
| Ube2q2 |
C |
A |
9: 55,057,084 (GRCm39) |
P56T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 102,988,019 (GRCm39) |
V208A |
probably damaging |
Het |
| Xkr7 |
T |
C |
2: 152,896,553 (GRCm39) |
I469T |
probably benign |
Het |
|
| Other mutations in Nfkbiz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Nfkbiz
|
APN |
16 |
55,638,272 (GRCm39) |
missense |
probably benign |
|
|
IGL01324:Nfkbiz
|
APN |
16 |
55,636,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02086:Nfkbiz
|
APN |
16 |
55,636,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02627:Nfkbiz
|
APN |
16 |
55,636,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02740:Nfkbiz
|
APN |
16 |
55,638,317 (GRCm39) |
missense |
probably benign |
|
|
R0349:Nfkbiz
|
UTSW |
16 |
55,639,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0539:Nfkbiz
|
UTSW |
16 |
55,638,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0827:Nfkbiz
|
UTSW |
16 |
55,636,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Nfkbiz
|
UTSW |
16 |
55,636,833 (GRCm39) |
splice site |
probably benign |
|
|
R1743:Nfkbiz
|
UTSW |
16 |
55,636,757 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2090:Nfkbiz
|
UTSW |
16 |
55,636,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2163:Nfkbiz
|
UTSW |
16 |
55,638,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3195:Nfkbiz
|
UTSW |
16 |
55,639,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Nfkbiz
|
UTSW |
16 |
55,638,799 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4765:Nfkbiz
|
UTSW |
16 |
55,639,387 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4864:Nfkbiz
|
UTSW |
16 |
55,638,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Nfkbiz
|
UTSW |
16 |
55,638,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:Nfkbiz
|
UTSW |
16 |
55,640,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Nfkbiz
|
UTSW |
16 |
55,634,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6327:Nfkbiz
|
UTSW |
16 |
55,642,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Nfkbiz
|
UTSW |
16 |
55,638,663 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7369:Nfkbiz
|
UTSW |
16 |
55,642,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Nfkbiz
|
UTSW |
16 |
55,638,202 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7941:Nfkbiz
|
UTSW |
16 |
55,642,307 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8193:Nfkbiz
|
UTSW |
16 |
55,642,214 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8402:Nfkbiz
|
UTSW |
16 |
55,636,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9222:Nfkbiz
|
UTSW |
16 |
55,634,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Nfkbiz
|
UTSW |
16 |
55,642,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9457:Nfkbiz
|
UTSW |
16 |
55,634,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nfkbiz
|
UTSW |
16 |
55,638,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nfkbiz
|
UTSW |
16 |
55,636,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCAATCTTTGGCCAAAC -3'
(R):5'- TACCACCATGTCAGAAGTGC -3'
Sequencing Primer
(F):5'- TTTGGCCAAACAACTACAAAGTAAG -3'
(R):5'- GTCAGAAGTGCCAAATTTCTCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation