Mutagenetix > Incidental Mutation

Incidental Mutation 'R9510:Traf6'

718068

Institutional Source

Beutler Lab

Gene Symbol

Traf6

Ensembl Gene

ENSMUSG00000027164

Gene Name

TNF receptor-associated factor 6

Synonyms

C630032O20Rik, 2310003F17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9510 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101508774-101532014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101521825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 220 (T220I)

Ref Sequence

ENSEMBL: ENSMUSP00000004949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004949]

AlphaFold

P70196

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004949
AA Change: T220I

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000004949
Gene: ENSMUSG00000027164
AA Change: T220I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	G	4: 42,760,998 (GRCm39)	W6G	unknown	Het
Aatk	A	T	11: 119,901,094 (GRCm39)	C1101S	probably benign	Het
Ankrd61	T	C	5: 143,828,322 (GRCm39)	T218A	possibly damaging	Het
Cacna1b	T	C	2: 24,540,058 (GRCm39)	E1467G	probably damaging	Het
Ccdc186	T	C	19: 56,802,016 (GRCm39)	T34A	probably benign	Het
Cdc42bpb	G	A	12: 111,261,372 (GRCm39)	P1656S	probably benign	Het
Cdk13	A	C	13: 17,902,747 (GRCm39)	C934W	probably damaging	Het
Cebpg	T	C	7: 34,750,080 (GRCm39)	N61S	probably benign	Het
Cldn13	T	A	5: 134,943,843 (GRCm39)	E114V	probably benign	Het
Clec9a	T	A	6: 129,398,023 (GRCm39)	I187K	possibly damaging	Het
Cr2	G	T	1: 194,840,416 (GRCm39)	L509M	probably damaging	Het
Creb3l2	C	A	6: 37,311,446 (GRCm39)	G448W	probably damaging	Het
Csf2rb	T	A	15: 78,229,760 (GRCm39)		probably null	Het
Cyth1	C	T	11: 118,076,206 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,910,203 (GRCm39)	D1441V	unknown	Het
Dnhd1	A	T	7: 105,352,889 (GRCm39)	N2681Y	possibly damaging	Het
Dnm1	T	C	2: 32,213,739 (GRCm39)	M476V	probably benign	Het
Dock1	T	G	7: 134,592,279 (GRCm39)	I938S	probably benign	Het
Duox1	G	A	2: 122,160,023 (GRCm39)	V713I	possibly damaging	Het
Dusp16	T	C	6: 134,695,226 (GRCm39)	H535R	probably benign	Het
Eif3j2	TGCCGCCGCCGCCGCCGCCGCCGCCGCC	TGCCGCCGCCGCCGCCGCCGCCGCC	18: 43,610,782 (GRCm39)		probably benign	Het
Fancd2os	T	A	6: 113,574,994 (GRCm39)	Y4F	probably damaging	Het
Fat4	A	T	3: 39,037,886 (GRCm39)	Q3846L	probably benign	Het
Fbxw10	A	C	11: 62,743,814 (GRCm39)	H240P	probably benign	Het
Fer1l5	T	C	1: 36,442,662 (GRCm39)	L727P	probably damaging	Het
Fezf1	A	C	6: 23,247,845 (GRCm39)	F77V	probably benign	Het
Fli1	T	C	9: 32,335,493 (GRCm39)	D313G	probably damaging	Het
Frmd4a	A	G	2: 4,608,324 (GRCm39)	T731A	probably benign	Het
Gfy	T	C	7: 44,828,090 (GRCm39)	Q2R	possibly damaging	Het
Ggt5	T	C	10: 75,445,139 (GRCm39)	V382A	probably benign	Het
Hira	A	G	16: 18,772,789 (GRCm39)	D867G	probably damaging	Het
Hmcn1	A	G	1: 150,462,127 (GRCm39)	S5184P	probably benign	Het
Ighv1-26	A	C	12: 114,752,407 (GRCm39)	F7V	probably benign	Het
Igkv4-81	C	T	6: 68,967,796 (GRCm39)	E102K	possibly damaging	Het
Inmt	G	T	6: 55,147,990 (GRCm39)	S213Y	possibly damaging	Het
Ints2	T	A	11: 86,135,335 (GRCm39)	M360L	probably benign	Het
Itih3	A	G	14: 30,631,416 (GRCm39)	S827P	probably benign	Het
Kcnk12	C	A	17: 88,054,122 (GRCm39)	R180L	probably benign	Het
Klhl2	T	C	8: 65,202,113 (GRCm39)	N521S	probably benign	Het
Kmt2a	A	T	9: 44,734,531 (GRCm39)	F2104I	unknown	Het
Kndc1	G	A	7: 139,510,031 (GRCm39)	S1291N	probably benign	Het
Mettl21a	T	C	1: 64,647,285 (GRCm39)	T91A	probably damaging	Het
Mmrn2	A	G	14: 34,120,407 (GRCm39)	I426V	possibly damaging	Het
Mrpl2	T	C	17: 46,958,440 (GRCm39)	V74A	probably benign	Het
Msantd4	A	G	9: 4,385,007 (GRCm39)	D244G	probably benign	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Ncam2	A	G	16: 81,420,341 (GRCm39)	*838W	probably null	Het
Ncor1	CTG	CTGATG	11: 62,324,442 (GRCm39)		probably benign	Het
Nsf	T	C	11: 103,763,988 (GRCm39)	N365S	probably damaging	Het
Osbpl3	C	T	6: 50,313,194 (GRCm39)		probably null	Het
Pam	C	T	1: 97,826,065 (GRCm39)		probably null	Het
Parn	A	T	16: 13,358,942 (GRCm39)	M600K	probably benign	Het
Pcdha11	C	A	18: 37,139,532 (GRCm39)	T387N	probably benign	Het
Ptprt	A	C	2: 161,397,381 (GRCm39)	C1129G	probably damaging	Het
Ralgapb	T	A	2: 158,285,856 (GRCm39)	S645T	probably damaging	Het
Rara	C	T	11: 98,860,983 (GRCm39)	S157L	probably benign	Het
Rnf40	T	A	7: 127,201,808 (GRCm39)	I1000N	probably damaging	Het
Sap25	C	T	5: 137,640,494 (GRCm39)	T141I	probably null	Het
Scube2	C	T	7: 109,430,969 (GRCm39)	G410E	probably damaging	Het
Sh3gl2	A	G	4: 85,304,089 (GRCm39)	E264G	probably benign	Het
Smc4	T	G	3: 68,914,662 (GRCm39)	S92A	probably damaging	Het
Sorcs1	C	T	19: 50,666,521 (GRCm39)	R129Q	probably benign	Het
Spata31e4	A	G	13: 50,856,149 (GRCm39)	T596A	possibly damaging	Het
Spef2	T	C	15: 9,713,203 (GRCm39)	R390G	probably damaging	Het
Speg	T	C	1: 75,377,768 (GRCm39)	F842S	probably damaging	Het
Stk17b	G	T	1: 53,796,898 (GRCm39)	H290N	probably damaging	Het
Stpg3	A	T	2: 25,103,516 (GRCm39)	V191D	probably benign	Het
Supt6	C	T	11: 78,120,290 (GRCm39)	R350H	probably damaging	Het
Taf1b	G	A	12: 24,566,947 (GRCm39)	A214T	possibly damaging	Het
Tet3	T	C	6: 83,380,935 (GRCm39)	E411G	possibly damaging	Het
Tet3	T	A	6: 83,381,808 (GRCm39)		probably null	Het
Tg	T	C	15: 66,545,913 (GRCm39)	Y212H	probably damaging	Het
Tns3	A	G	11: 8,395,702 (GRCm39)	I1234T	probably damaging	Het
Tram2	C	G	1: 21,074,150 (GRCm39)	A263P	possibly damaging	Het
Treml1	T	G	17: 48,673,771 (GRCm39)	S261A	probably damaging	Het
Trim34b	A	G	7: 103,980,503 (GRCm39)	E197G	probably damaging	Het
Tspan18	C	T	2: 93,050,462 (GRCm39)	G54S	probably damaging	Het
Wdtc1	A	G	4: 133,049,529 (GRCm39)	V29A	probably damaging	Het
Zdhhc16	T	C	19: 41,929,155 (GRCm39)	Y253H	probably damaging	Het
Zfp366	A	G	13: 99,365,874 (GRCm39)	Y345C	probably damaging	Het
Zfp423	T	A	8: 88,510,041 (GRCm39)	D101V	possibly damaging	Het
Zfp462	G	A	4: 55,080,735 (GRCm39)	M2450I	probably benign	Het
Zfp52	C	T	17: 21,782,218 (GRCm39)	L689F	possibly damaging	Het
Zim1	G	A	7: 6,690,739 (GRCm39)	Q29*	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
R4498:Traf6	UTSW	2	101,514,891 (GRCm39)	missense	probably benign	0.01
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
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'- CGTACATAAGCAAAGGCCCTTC -3'
(R):5'- CCCTGAGTTCCAATGGAATCC -3'

Sequencing Primer
(F):5'- TCCTTCACTTGCTCATGGTG -3'
(R):5'- CTCCTGAGTGCTGAGATTAAAGGC -3'

Posted On

2022-07-18