Mutagenetix > Incidental Mutation

Incidental Mutation 'R9747:Traf6'

732188

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 #

R9747 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101508774-101532014 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 101527029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 260 (R260*)

Ref Sequence

ENSEMBL: ENSMUSP00000004949 (fasta)

Gene Model

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

AlphaFold

P70196

Predicted Effect

probably null
Transcript: ENSMUST00000004949
AA Change: R260*

SMART Domains

Protein: ENSMUSP00000004949
Gene: ENSMUSG00000027164
AA Change: R260*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,668,711 (GRCm39)	S701P	probably damaging	Het
Acsl1	A	G	8: 46,961,397 (GRCm39)	K114R	probably benign	Het
Adam11	A	G	11: 102,663,495 (GRCm39)	N275D	probably damaging	Het
Adamts19	G	A	18: 59,023,487 (GRCm39)	R294H	possibly damaging	Het
Adamts20	C	T	15: 94,180,943 (GRCm39)	C1666Y	probably damaging	Het
Ahnak	A	T	19: 8,987,541 (GRCm39)	I2942L	possibly damaging	Het
Ank1	A	G	8: 23,576,993 (GRCm39)	H195R	probably damaging	Het
Ank2	T	C	3: 126,752,667 (GRCm39)	T350A	probably damaging	Het
Asb3	T	A	11: 31,008,946 (GRCm39)	N243K	possibly damaging	Het
Atp10b	C	T	11: 43,088,339 (GRCm39)	T315I	probably benign	Het
Avl9	C	T	6: 56,730,825 (GRCm39)	S583F	probably damaging	Het
Bclaf1	A	G	10: 20,207,892 (GRCm39)	K700E	possibly damaging	Het
Brd10	C	A	19: 29,731,911 (GRCm39)	C367F	possibly damaging	Het
Cacna1i	G	A	15: 80,246,318 (GRCm39)	E571K	probably benign	Het
Casp1	T	A	9: 5,299,322 (GRCm39)	V17E	probably damaging	Het
Ccdc115	A	T	1: 34,478,001 (GRCm39)	D76E	probably benign	Het
Ccdc150	A	T	1: 54,299,107 (GRCm39)	R28*	probably null	Het
Cd36	T	G	5: 18,019,732 (GRCm39)	E123A	probably benign	Het
Cd5l	A	C	3: 87,275,104 (GRCm39)	Q214H	probably benign	Het
Cfap46	T	A	7: 139,191,907 (GRCm39)	H2370L	unknown	Het
Cftr	C	A	6: 18,285,636 (GRCm39)	T1148K	possibly damaging	Het
Col15a1	T	A	4: 47,312,208 (GRCm39)	L1341Q	probably damaging	Het
Col6a6	T	C	9: 105,661,239 (GRCm39)	E290G	probably benign	Het
D6Wsu163e	A	G	6: 126,938,977 (GRCm39)	E404G	probably benign	Het
Dchs1	A	T	7: 105,412,682 (GRCm39)	D1239E	probably damaging	Het
Dennd4b	C	T	3: 90,177,828 (GRCm39)	T430I	possibly damaging	Het
Dmgdh	C	T	13: 93,825,154 (GRCm39)	P159L	probably damaging	Het
Dmrt3	G	A	19: 25,600,003 (GRCm39)	D283N	probably damaging	Het
Dnttip1	A	G	2: 164,607,100 (GRCm39)	D247G	probably damaging	Het
Efhc1	A	T	1: 21,048,928 (GRCm39)	D447V	probably damaging	Het
Ehhadh	T	C	16: 21,585,138 (GRCm39)	K248E	probably benign	Het
Eif4enif1	T	C	11: 3,163,267 (GRCm39)	L34P	probably damaging	Het
Fer	T	C	17: 64,214,376 (GRCm39)	M103T	probably benign	Het
Gabrg1	T	C	5: 70,938,029 (GRCm39)	M197V	probably damaging	Het
Galnt5	C	A	2: 57,889,477 (GRCm39)	T359K	probably benign	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Gna12	T	C	5: 140,746,602 (GRCm39)	N281S	probably damaging	Het
Golgb1	C	T	16: 36,713,769 (GRCm39)	T250I	probably damaging	Het
Gpd1	A	G	15: 99,618,004 (GRCm39)	K130E	probably benign	Het
Gys2	A	T	6: 142,395,181 (GRCm39)	M428K	possibly damaging	Het
Hey2	A	C	10: 30,709,824 (GRCm39)	S310A	probably benign	Het
Ifi47	T	C	11: 48,987,367 (GRCm39)	V378A	possibly damaging	Het
Ighv8-12	A	G	12: 115,611,640 (GRCm39)	S95P	probably damaging	Het
Igkv1-131	G	T	6: 67,743,215 (GRCm39)	T56K	probably damaging	Het
Igsf23	T	C	7: 19,675,839 (GRCm39)	N127S	probably benign	Het
Iqgap2	T	A	13: 95,821,505 (GRCm39)	N546I	probably damaging	Het
Irf9	A	G	14: 55,844,045 (GRCm39)	H270R	probably benign	Het
Itga6	C	T	2: 71,656,871 (GRCm39)	S375L	probably damaging	Het
Jak1	T	C	4: 101,016,087 (GRCm39)	E857G	probably benign	Het
Kbtbd8	A	G	6: 95,098,838 (GRCm39)	T116A	possibly damaging	Het
Kif5a	T	C	10: 127,074,622 (GRCm39)	I570V	probably benign	Het
Klhdc10	T	C	6: 30,439,859 (GRCm39)	M154T	possibly damaging	Het
Krtap6-2	A	G	16: 89,216,776 (GRCm39)	Y64H	unknown	Het
Lce1l	C	T	3: 92,757,828 (GRCm39)	C10Y	unknown	Het
Lrrc72	A	G	12: 36,264,371 (GRCm39)	Y29H	probably damaging	Het
Ltbp2	A	T	12: 84,915,515 (GRCm39)	N181K	probably damaging	Het
Ly75	A	G	2: 60,136,672 (GRCm39)		probably null	Het
Mpped1	A	G	15: 83,684,305 (GRCm39)	Y109C	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,458 (GRCm39)	V267I	probably benign	Het
Muc4	T	A	16: 32,754,698 (GRCm38)	V1524E	probably benign	Het
Nabp2	T	A	10: 128,237,610 (GRCm39)	R208*	probably null	Het
Ndst3	A	G	3: 123,340,461 (GRCm39)	F786L	possibly damaging	Het
Nos2	C	T	11: 78,822,472 (GRCm39)	P123S	probably damaging	Het
Nrcam	T	A	12: 44,645,192 (GRCm39)	V1198E	probably damaging	Het
Oacyl	A	G	18: 65,880,962 (GRCm39)	Q592R	possibly damaging	Het
Or10ak9	C	T	4: 118,726,217 (GRCm39)	P80S	probably damaging	Het
Or5as1	T	A	2: 86,980,898 (GRCm39)	T36S	probably benign	Het
Pcdhgc4	A	G	18: 37,951,026 (GRCm39)	Y814C	probably benign	Het
Pcm1	A	C	8: 41,757,135 (GRCm39)	H1349P	probably benign	Het
Pcsk6	T	A	7: 65,633,470 (GRCm39)	D567E	probably damaging	Het
Pdgfd	T	C	9: 6,337,310 (GRCm39)	V214A	probably benign	Het
Plekhg3	A	T	12: 76,611,367 (GRCm39)	N270I	probably damaging	Het
Rasgrf1	T	A	9: 89,877,047 (GRCm39)	V804E	probably benign	Het
Rbl1	G	T	2: 157,033,966 (GRCm39)	L371I	probably damaging	Het
Rcl1	T	A	19: 29,105,482 (GRCm39)	I223N	probably damaging	Het
Saa4	C	T	7: 46,381,077 (GRCm39)	G15E	probably damaging	Het
Selenbp1	T	C	3: 94,844,648 (GRCm39)	S102P	probably damaging	Het
Setx	G	T	2: 29,064,377 (GRCm39)	E232*	probably null	Het
Sik2	A	G	9: 50,810,058 (GRCm39)	F502L	possibly damaging	Het
Slamf9	A	T	1: 172,305,782 (GRCm39)	I272F	unknown	Het
Slc33a1	A	T	3: 63,861,424 (GRCm39)	D259E	probably benign	Het
Slc41a3	A	G	6: 90,621,138 (GRCm39)	I393V	probably benign	Het
Slk	A	G	19: 47,608,346 (GRCm39)	D433G	possibly damaging	Het
Spata13	C	T	14: 60,929,240 (GRCm39)	P266L	probably benign	Het
Speer4c1	T	A	5: 15,916,652 (GRCm39)	Q105L	probably benign	Het
Srgap1	T	A	10: 121,761,771 (GRCm39)	I126F	probably damaging	Het
Srgap1	A	G	10: 121,628,579 (GRCm39)	S818P	probably benign	Het
Tbpl2	A	T	2: 23,981,104 (GRCm39)	C232*	probably null	Het
Tctn3	T	G	19: 40,599,743 (GRCm39)	N153T	possibly damaging	Het
Tdrd1	T	A	19: 56,847,101 (GRCm39)	V914E	probably benign	Het
Tmem200b	A	G	4: 131,649,359 (GRCm39)	H93R	possibly damaging	Het
Tmem33	T	G	5: 67,425,922 (GRCm39)	N155K	possibly damaging	Het
Tmprss15	T	C	16: 78,884,400 (GRCm39)	D94G	probably benign	Het
Tnpo2	A	G	8: 85,781,988 (GRCm39)	D869G	probably benign	Het
Ttn	C	T	2: 76,594,293 (GRCm39)	V20552I	possibly damaging	Het
Vmn2r102	T	A	17: 19,898,129 (GRCm39)	D381E	probably benign	Het
Vmn2r92	T	C	17: 18,405,201 (GRCm39)	F782L	possibly damaging	Het
Zfc3h1	G	A	10: 115,244,821 (GRCm39)	D765N	possibly damaging	Het
Zfp472	T	A	17: 33,196,271 (GRCm39)	H115Q	possibly damaging	Het
Zmynd11	T	A	13: 9,739,244 (GRCm39)	N514I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ATCAGAGTGACAGCTCAAAGTG -3'
(R):5'- ATGGTCCTGTCTTACTAGGCG -3'

Sequencing Primer
(F):5'- CAGCTCAAAGTGTTCATCAGTTGGC -3'
(R):5'- AGGCGACTCTCCAACTGTTTGATAG -3'

Posted On

2022-11-14