Incidental Mutation 'R4498:Traf6'
| ID |
331681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf6
|
| Ensembl Gene |
ENSMUSG00000027164 |
| Gene Name |
TNF receptor-associated factor 6 |
| Synonyms |
C630032O20Rik, 2310003F17Rik |
| MMRRC Submission |
041751-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4498 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
101508774-101532014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101514891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 16
(S16P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004949]
|
| AlphaFold |
P70196 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004949
AA Change: S16P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000004949
Gene: ENSMUSG00000027164
AA Change: S16P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
RING
|
70 |
108 |
8.61e-9 |
SMART |
|
internal_repeat_1
|
132 |
189 |
3.04e-6 |
PROSPERO |
|
Pfam:zf-TRAF
|
204 |
261 |
2.6e-22 |
PFAM |
|
MATH
|
363 |
490 |
2.87e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144063
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
91% (53/58) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the TNF receptor associated factor (TRAF) family of adaptor proteins that mediate signaling events from members of the TNF receptor and Toll/IL-1 receptor families to activate transcription factors such as NF-kappa-B and AP-1. The product of this gene is essential for perinatal and postnatal survival. Mice deficient in this protein exhibit osteopetrosis and defective in development of epidermal appendixes, normal B cell differentiation, lymph node organogenesis, interleukin-1 signaling, lipopolysaccharide signaling and neural tube closure. This protein possesses ubiquitin ligase activity. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Viability is reduced in mice lacking both functional copies of this gene, with death occuring just before birth or around weaning. Mutants exhibit osteopetrosis and immune defects including abnormal immune cell development and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
| Acot9 |
T |
A |
X: 154,047,064 (GRCm39) |
L18* |
probably null |
Het |
| Arhgap12 |
A |
T |
18: 6,111,774 (GRCm39) |
C69S |
probably damaging |
Het |
| Ccdc17 |
G |
T |
4: 116,454,438 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
C |
15: 30,620,020 (GRCm39) |
D124A |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,341,847 (GRCm39) |
N424S |
probably damaging |
Het |
| Dhrs7c |
T |
C |
11: 67,706,706 (GRCm39) |
F214S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,160,923 (GRCm39) |
D3269G |
possibly damaging |
Het |
| Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
| Glul |
G |
T |
1: 153,782,849 (GRCm39) |
G187* |
probably null |
Het |
| Gnmt |
ATTAGGGGATGGTCTTAGGG |
ATTAGGG |
17: 47,036,662 (GRCm39) |
294 |
probably benign |
Het |
| H2-Q7 |
A |
T |
17: 35,658,506 (GRCm39) |
Y48F |
probably damaging |
Het |
| Hes3 |
T |
C |
4: 152,371,542 (GRCm39) |
T136A |
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,433,900 (GRCm39) |
T29A |
possibly damaging |
Het |
| Lrrc37a |
C |
A |
11: 103,392,624 (GRCm39) |
D934Y |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,833,599 (GRCm39) |
D581V |
probably damaging |
Het |
| Med27 |
T |
C |
2: 29,361,354 (GRCm39) |
S38P |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,719,501 (GRCm39) |
|
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,170,236 (GRCm39) |
K292R |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
| Mthfd1 |
G |
T |
12: 76,361,764 (GRCm39) |
L123F |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,059,711 (GRCm39) |
L1363Q |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,142,578 (GRCm39) |
I913T |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,485,869 (GRCm39) |
N649K |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
| Ndst4 |
A |
G |
3: 125,232,007 (GRCm39) |
D192G |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,183,157 (GRCm39) |
D1239G |
possibly damaging |
Het |
| Or5b21 |
T |
C |
19: 12,840,033 (GRCm39) |
V298A |
probably damaging |
Het |
| Or7e173 |
G |
C |
9: 19,939,029 (GRCm39) |
N68K |
possibly damaging |
Het |
| Phf10 |
T |
A |
17: 15,165,377 (GRCm39) |
N493I |
probably benign |
Het |
| Pramel32 |
A |
T |
4: 88,547,129 (GRCm39) |
|
probably null |
Het |
| Prr12 |
T |
C |
7: 44,695,338 (GRCm39) |
E1376G |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,664,587 (GRCm39) |
H75R |
probably benign |
Het |
| Rin3 |
G |
A |
12: 102,335,939 (GRCm39) |
V537M |
probably damaging |
Het |
| Samd4 |
C |
T |
14: 47,333,566 (GRCm39) |
T272I |
probably damaging |
Het |
| Septin5 |
C |
T |
16: 18,442,142 (GRCm39) |
G257D |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,326 (GRCm39) |
K141R |
probably benign |
Het |
| Siglecf |
T |
A |
7: 43,001,700 (GRCm39) |
I170N |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Stk40 |
G |
A |
4: 126,023,544 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 4,981,768 (GRCm39) |
S8700P |
probably benign |
Het |
| Tbc1d4 |
C |
T |
14: 101,845,772 (GRCm39) |
G42E |
probably damaging |
Het |
| Tfap2c |
C |
T |
2: 172,399,102 (GRCm39) |
Q425* |
probably null |
Het |
| Tmem255b |
T |
C |
8: 13,505,998 (GRCm39) |
S202P |
probably damaging |
Het |
| Ttc12 |
A |
G |
9: 49,383,705 (GRCm39) |
I66T |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,787,885 (GRCm39) |
D818N |
possibly damaging |
Het |
| Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,379,749 (GRCm39) |
S211* |
probably null |
Het |
|
| Other mutations in Traf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Traf6
|
APN |
2 |
101,515,128 (GRCm39) |
missense |
probably benign |
|
|
IGL01619:Traf6
|
APN |
2 |
101,520,443 (GRCm39) |
nonsense |
probably null |
|
|
IGL01746:Traf6
|
APN |
2 |
101,527,237 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02071:Traf6
|
APN |
2 |
101,527,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02666:Traf6
|
APN |
2 |
101,527,512 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02693:Traf6
|
APN |
2 |
101,518,850 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02819:Traf6
|
APN |
2 |
101,515,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Accordo
|
UTSW |
2 |
101,527,029 (GRCm39) |
nonsense |
probably null |
|
|
concurrence
|
UTSW |
2 |
101,527,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
consistency
|
UTSW |
2 |
101,527,333 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0056:Traf6
|
UTSW |
2 |
101,527,496 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0390:Traf6
|
UTSW |
2 |
101,518,933 (GRCm39) |
nonsense |
probably null |
|
|
R1470:Traf6
|
UTSW |
2 |
101,526,994 (GRCm39) |
splice site |
probably benign |
|
|
R1727:Traf6
|
UTSW |
2 |
101,527,084 (GRCm39) |
missense |
probably benign |
|
|
R2075:Traf6
|
UTSW |
2 |
101,527,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5166:Traf6
|
UTSW |
2 |
101,520,402 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5385:Traf6
|
UTSW |
2 |
101,515,100 (GRCm39) |
nonsense |
probably null |
|
|
R5636:Traf6
|
UTSW |
2 |
101,527,254 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6005:Traf6
|
UTSW |
2 |
101,527,029 (GRCm39) |
nonsense |
probably null |
|
|
R7472:Traf6
|
UTSW |
2 |
101,527,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8175:Traf6
|
UTSW |
2 |
101,521,825 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8462:Traf6
|
UTSW |
2 |
101,527,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Traf6
|
UTSW |
2 |
101,520,443 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9008:Traf6
|
UTSW |
2 |
101,527,333 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9224:Traf6
|
UTSW |
2 |
101,527,512 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9310:Traf6
|
UTSW |
2 |
101,527,072 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9489:Traf6
|
UTSW |
2 |
101,524,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Traf6
|
UTSW |
2 |
101,521,825 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9554:Traf6
|
UTSW |
2 |
101,518,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9605:Traf6
|
UTSW |
2 |
101,524,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Traf6
|
UTSW |
2 |
101,518,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Traf6
|
UTSW |
2 |
101,527,029 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGTTATGCAACACAGCTCAAAAC -3'
(R):5'- GCTTCCCGTAAAGCCATCAAG -3'
Sequencing Primer
(F):5'- AGCTCAAAACACTTAAAGCTATTTTG -3'
(R):5'- CTGGATCTCCTCCATGAA -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation