Mutagenetix > Incidental Mutations

Incidental Mutation 'R0109:Traf7'

17400

Institutional Source

Beutler Lab

Gene Symbol

Traf7

Ensembl Gene

ENSMUSG00000052752

Gene Name

TNF receptor-associated factor 7

Synonyms

RFWD1

MMRRC Submission

038395-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.598) question?

Stock #

R0109 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24508562-24527938 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24513926 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 110 (F110L)

Ref Sequence

ENSEMBL: ENSMUSP00000134946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176178] [ENSMUST00000176237] [ENSMUST00000176324] [ENSMUST00000176353] [ENSMUST00000176652] [ENSMUST00000177154] [ENSMUST00000177193] [ENSMUST00000177401] [ENSMUST00000177405] [ENSMUST00000176668] [ENSMUST00000177025]

Predicted Effect

probably benign
Transcript: ENSMUST00000070777
AA Change: F111L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752
AA Change: F111L

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
RING	92	125	4.73e-6	SMART
coiled coil region	264	332	N/A	INTRINSIC
WD40	344	383	8.35e-11	SMART
WD40	387	424	8.42e-7	SMART
WD40	427	463	2.09e-2	SMART
WD40	468	504	1.92e0	SMART
WD40	507	544	5.15e-2	SMART
WD40	547	588	1.78e-5	SMART
WD40	591	628	1.63e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088464
AA Change: F149L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752
AA Change: F149L

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	90	104	N/A	INTRINSIC
low complexity region	109	117	N/A	INTRINSIC
RING	130	163	4.73e-6	SMART
Pfam:zf-TRAF	221	277	3.4e-8	PFAM
coiled coil region	304	372	N/A	INTRINSIC
WD40	384	423	8.35e-11	SMART
WD40	427	464	8.42e-7	SMART
WD40	467	503	2.09e-2	SMART
WD40	508	544	1.92e0	SMART
WD40	547	584	5.15e-2	SMART
WD40	587	628	1.78e-5	SMART
WD40	631	668	1.63e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175732

Predicted Effect

probably benign
Transcript: ENSMUST00000176086

SMART Domains

Protein: ENSMUSP00000135845
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	103	132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176092

Predicted Effect

probably benign
Transcript: ENSMUST00000176178

SMART Domains

Protein: ENSMUSP00000134808
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176237
AA Change: F110L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134946
Gene: ENSMUSG00000052752
AA Change: F110L

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
RING	91	124	4.73e-6	SMART
Pfam:zf-TRAF	182	238	8.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176324

Predicted Effect

probably benign
Transcript: ENSMUST00000176353
AA Change: F111L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752
AA Change: F111L

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
RING	92	125	4.73e-6	SMART
coiled coil region	264	332	N/A	INTRINSIC
WD40	344	383	8.35e-11	SMART
WD40	387	424	8.42e-7	SMART
WD40	427	463	2.09e-2	SMART
WD40	468	504	1.92e0	SMART
WD40	507	544	5.15e-2	SMART
WD40	547	588	1.78e-5	SMART
WD40	591	628	1.63e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176434

Predicted Effect

probably benign
Transcript: ENSMUST00000176652
AA Change: F149L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752
AA Change: F149L

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	90	104	N/A	INTRINSIC
low complexity region	109	117	N/A	INTRINSIC
RING	130	163	4.73e-6	SMART
coiled coil region	304	372	N/A	INTRINSIC
WD40	384	423	8.35e-11	SMART
WD40	427	464	8.42e-7	SMART
WD40	467	503	2.09e-2	SMART
WD40	508	544	1.92e0	SMART
WD40	547	584	5.15e-2	SMART
WD40	587	628	1.78e-5	SMART
WD40	631	668	1.63e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177154
AA Change: F150L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135874
Gene: ENSMUSG00000052752
AA Change: F150L

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	91	105	N/A	INTRINSIC
low complexity region	110	118	N/A	INTRINSIC
RING	131	164	4.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177193
AA Change: F149L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135288
Gene: ENSMUSG00000052752
AA Change: F149L

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	90	104	N/A	INTRINSIC
low complexity region	109	117	N/A	INTRINSIC
RING	130	163	4.73e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000177502
AA Change: F42L

SMART Domains

Protein: ENSMUSP00000134970
Gene: ENSMUSG00000052752
AA Change: F42L

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
RING	24	68	4.24e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177024

Predicted Effect

probably benign
Transcript: ENSMUST00000177401

Predicted Effect

probably benign
Transcript: ENSMUST00000177405

SMART Domains

Protein: ENSMUSP00000135127
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176668

SMART Domains

Protein: ENSMUSP00000135586
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177025

Meta Mutation Damage Score

0.1604

Coding Region Coverage

1x: 90.6%
3x: 88.5%
10x: 83.8%
20x: 77.5%

Validation Efficiency

90% (95/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,659,303	H710Q	probably benign	Het
Abca14	A	T	7: 120,318,762	K1496*	probably null	Het
Anapc1	C	A	2: 128,634,693	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,578,294	S203T	probably benign	Het
Astn1	C	T	1: 158,664,104	T41I	possibly damaging	Het
Atrnl1	T	A	19: 57,755,517	Y1184N	possibly damaging	Het
Avil	A	G	10: 127,013,644	N603S	probably benign	Het
Brca1	T	C	11: 101,531,090	D149G	possibly damaging	Het
Car14	C	A	3: 95,899,451	A234S	probably benign	Het
Cep164	A	C	9: 45,771,587	L935R	probably damaging	Het
Cps1	T	C	1: 67,229,418	V1435A	possibly damaging	Het
Csmd2	T	G	4: 128,544,743	S3038R	probably benign	Het
Cyp2j6	A	T	4: 96,518,157	I459N	probably damaging	Het
Cyth1	T	C	11: 118,182,306	E242G	probably damaging	Het
Dclk3	T	G	9: 111,467,670	L94R	possibly damaging	Het
Disp2	T	C	2: 118,791,816	S1010P	probably damaging	Het
Dlec1	G	A	9: 119,105,824	R145H	probably damaging	Het
Dsg3	T	C	18: 20,540,134	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487	D309V	probably damaging	Het
Fam13b	A	G	18: 34,451,308	I601T	probably benign	Het
Fgd5	T	A	6: 91,988,235	M325K	possibly damaging	Het
Frmpd1	A	T	4: 45,279,340	E688D	probably benign	Het
Gabrb1	C	T	5: 72,121,946		probably benign	Het
Gm10130	A	T	2: 150,323,841		probably benign	Het
Gm6590	A	T	6: 130,484,906		noncoding transcript	Het
Gse1	T	A	8: 120,567,785	S284T	probably damaging	Het
Ipo13	C	T	4: 117,905,016	R387Q	possibly damaging	Het
Kctd16	A	G	18: 40,259,151	E264G	probably benign	Het
Krt73	A	T	15: 101,796,395	L352*	probably null	Het
Mapk15	A	T	15: 75,996,077	K153*	probably null	Het
Mcemp1	C	A	8: 3,667,055	Y65*	probably null	Het
Mcoln2	C	G	3: 146,175,718	R210G	probably damaging	Het
Miox	G	A	15: 89,335,581	V91I	probably benign	Het
Myh7b	A	G	2: 155,611,674	E6G	possibly damaging	Het
Ncapg	A	G	5: 45,693,748		probably null	Het
Nfyb	G	A	10: 82,755,002	A65V	possibly damaging	Het
Olfr1241	A	G	2: 89,482,803	F111L	probably benign	Het
Olfr1442	C	A	19: 12,674,860	F218L	probably benign	Het
Olfr646	T	C	7: 104,106,605	S109P	probably damaging	Het
Osbp2	A	C	11: 3,711,791	S754A	probably benign	Het
Pard3	C	T	8: 127,398,666	R712C	probably damaging	Het
Parp9	T	C	16: 35,948,341	I64T	probably damaging	Het
Pcm1	T	A	8: 41,257,937	H81Q	possibly damaging	Het
Pcnt	G	A	10: 76,389,196	P1825S	probably benign	Het
Pfkfb4	T	C	9: 108,998,889	V43A	probably benign	Het
Pgap1	A	T	1: 54,494,825	V643E	probably damaging	Het
Pip5k1a	T	C	3: 95,065,442	T433A	probably benign	Het
Pip5k1b	T	A	19: 24,379,047	M176L	probably benign	Het
Polg2	T	C	11: 106,777,132		probably benign	Het
Pomp	T	A	5: 147,875,513	H136Q	probably benign	Het
Ppfia4	A	T	1: 134,324,217		probably null	Het
Prdx2	G	A	8: 84,970,251	G4S	probably benign	Het
Rbm28	C	T	6: 29,160,105	G70D	probably benign	Het
Rdh10	T	A	1: 16,106,265	I83N	probably damaging	Het
Rin3	A	G	12: 102,313,081	I50V	possibly damaging	Het
Rnf122	T	C	8: 31,124,849		probably benign	Het
Sik2	A	G	9: 50,899,475	M447T	possibly damaging	Het
Sla2	A	G	2: 156,883,587		probably null	Het
Slc51a	T	A	16: 32,477,607	I192L	probably benign	Het
Sorcs1	T	C	19: 50,378,891		probably benign	Het
Spata16	T	A	3: 26,913,267	F389I	probably damaging	Het
Srebf1	G	A	11: 60,201,804	A793V	probably benign	Het
Tbc1d9b	T	C	11: 50,158,434	V736A	probably benign	Het
Tbx15	C	A	3: 99,351,866	T351N	possibly damaging	Het
Tep1	A	G	14: 50,851,916		probably null	Het
Tmed11	T	A	5: 108,777,412	D178V	probably damaging	Het
Ubqlnl	C	T	7: 104,150,192	V33M	probably damaging	Het
Vcan	A	T	13: 89,678,073		probably null	Het
Vmn1r194	A	G	13: 22,245,047	Y278C	probably damaging	Het
Vmn1r46	T	C	6: 89,977,062	F298L	probably benign	Het
Vps13b	A	G	15: 35,572,119	T961A	probably benign	Het
Wdr48	G	A	9: 119,918,568		probably benign	Het
Wwp1	G	A	4: 19,641,725		probably benign	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp839	G	A	12: 110,860,874	E400K	possibly damaging	Het

Other mutations in Traf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Traf7	APN	17	24510375	unclassified	probably benign
IGL01821:Traf7	APN	17	24510499	missense	probably damaging	0.99
IGL02263:Traf7	APN	17	24513046	missense	possibly damaging	0.47
IGL02307:Traf7	APN	17	24513046	missense	possibly damaging	0.47
IGL02321:Traf7	APN	17	24513046	missense	possibly damaging	0.47
IGL02323:Traf7	APN	17	24513046	missense	possibly damaging	0.47
IGL02636:Traf7	APN	17	24512990	missense	probably benign
R0109:Traf7	UTSW	17	24513926	missense	probably benign	0.12
R0193:Traf7	UTSW	17	24510551	missense	probably benign	0.22
R1426:Traf7	UTSW	17	24511681	missense	probably damaging	1.00
R1484:Traf7	UTSW	17	24511811	missense	possibly damaging	0.86
R1574:Traf7	UTSW	17	24510553	missense	probably damaging	1.00
R1574:Traf7	UTSW	17	24510553	missense	probably damaging	1.00
R1728:Traf7	UTSW	17	24512379	missense	probably damaging	0.98
R1729:Traf7	UTSW	17	24512379	missense	probably damaging	0.98
R1784:Traf7	UTSW	17	24512379	missense	probably damaging	0.98
R1959:Traf7	UTSW	17	24513281	missense	probably damaging	1.00
R1994:Traf7	UTSW	17	24510502	missense	probably damaging	0.99
R2484:Traf7	UTSW	17	24511639	missense	probably damaging	1.00
R4682:Traf7	UTSW	17	24513374	missense	probably damaging	1.00
R4778:Traf7	UTSW	17	24510438	unclassified	probably benign
R4779:Traf7	UTSW	17	24510438	unclassified	probably benign
R4781:Traf7	UTSW	17	24510438	unclassified	probably benign
R5120:Traf7	UTSW	17	24518744	nonsense	probably null
R6594:Traf7	UTSW	17	24509839	missense	possibly damaging	0.92
R6885:Traf7	UTSW	17	24512292	missense	probably benign	0.28
R7396:Traf7	UTSW	17	24509545	missense	probably damaging	1.00
R7669:Traf7	UTSW	17	24513308	nonsense	probably null
R7707:Traf7	UTSW	17	24510709	splice site	probably null
R8087:Traf7	UTSW	17	24512064	missense	possibly damaging	0.69
R8557:Traf7	UTSW	17	24510041	missense	probably damaging	1.00
Z1177:Traf7	UTSW	17	24509572	missense	probably damaging	1.00

Posted On

2013-01-31