Mutagenetix > Incidental Mutation

Incidental Mutation 'R5849:Trafd1'

453765

Institutional Source

Beutler Lab

Gene Symbol

Trafd1

Ensembl Gene

ENSMUSG00000042726

Gene Name

TRAF type zinc finger domain containing 1

Synonyms

Fln29, 1110008K06Rik

MMRRC Submission

044066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121509788-121523695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121511534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 428 (D428G)

Ref Sequence

ENSEMBL: ENSMUSP00000113910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042312] [ENSMUST00000042614] [ENSMUST00000120784] [ENSMUST00000156158]

AlphaFold

Q3UDK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000042312
AA Change: D428G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047475
Gene: ENSMUSG00000042726
AA Change: D428G

Domain	Start	End	E-Value	Type
ZnF_C2H2	37	59	1.55e1	SMART
PDB:2D9K\|A	78	137	7e-33	PDB
low complexity region	211	228	N/A	INTRINSIC
ZnF_C2H2	291	316	2.57e2	SMART
internal_repeat_1	364	390	2.73e-6	PROSPERO
low complexity region	534	551	N/A	INTRINSIC
low complexity region	561	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042614

SMART Domains

Protein: ENSMUSP00000048345
Gene: ENSMUSG00000042744

Domain	Start	End	E-Value	Type
low complexity region	224	234	N/A	INTRINSIC
low complexity region	266	282	N/A	INTRINSIC
low complexity region	553	564	N/A	INTRINSIC
low complexity region	725	735	N/A	INTRINSIC
low complexity region	1252	1265	N/A	INTRINSIC
coiled coil region	1372	1398	N/A	INTRINSIC
low complexity region	1551	1562	N/A	INTRINSIC
low complexity region	1725	1741	N/A	INTRINSIC
low complexity region	1892	1904	N/A	INTRINSIC
low complexity region	2656	2666	N/A	INTRINSIC
low complexity region	2857	2872	N/A	INTRINSIC
low complexity region	2901	2917	N/A	INTRINSIC
low complexity region	2921	2933	N/A	INTRINSIC
low complexity region	3232	3246	N/A	INTRINSIC
low complexity region	3275	3335	N/A	INTRINSIC
low complexity region	3441	3448	N/A	INTRINSIC
low complexity region	3473	3506	N/A	INTRINSIC
low complexity region	3512	3533	N/A	INTRINSIC
low complexity region	3540	3554	N/A	INTRINSIC
low complexity region	3794	3822	N/A	INTRINSIC
HECTc	4048	4412	4.78e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120784
AA Change: D428G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113910
Gene: ENSMUSG00000042726
AA Change: D428G

Domain	Start	End	E-Value	Type
ZnF_C2H2	37	59	1.55e1	SMART
PDB:2D9K\|A	78	137	7e-33	PDB
low complexity region	211	228	N/A	INTRINSIC
ZnF_C2H2	291	316	2.57e2	SMART
internal_repeat_1	364	390	3.07e-6	PROSPERO
low complexity region	531	545	N/A	INTRINSIC
low complexity region	557	569	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133138

Predicted Effect

probably benign
Transcript: ENSMUST00000156158

SMART Domains

Protein: ENSMUSP00000143426
Gene: ENSMUSG00000042726

Domain	Start	End	E-Value	Type
PDB:2D9K\|A	1	32	3e-15	PDB
low complexity region	106	123	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000202064
AA Change: D1G

Meta Mutation Damage Score

0.1543

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

96% (72/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit increased susceptibility to endotoxin shock and decreased susceptibility to viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Agbl1	T	C	7: 75,974,846 (GRCm39)	S113P	probably benign	Het
Ak9	A	G	10: 41,224,045 (GRCm39)	D486G	probably benign	Het
Aopep	A	G	13: 63,163,312 (GRCm39)	D111G	probably benign	Het
Arhgap11a	T	C	2: 113,665,192 (GRCm39)	S469G	probably null	Het
Comtd1	C	T	14: 21,898,188 (GRCm39)	G48D	probably damaging	Het
Cyp27a1	T	C	1: 74,775,843 (GRCm39)	S343P	probably damaging	Het
Dcun1d1	T	A	3: 35,970,333 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,744,223 (GRCm39)	I1404T	possibly damaging	Het
Dlgap5	A	G	14: 47,626,892 (GRCm39)	S766P	possibly damaging	Het
Ebf1	T	A	11: 44,881,331 (GRCm39)		probably null	Het
Flcn	T	A	11: 59,695,586 (GRCm39)	I4L	probably damaging	Het
Gm57858	A	T	3: 36,087,026 (GRCm39)	D189E	possibly damaging	Het
Grin2c	T	C	11: 115,151,817 (GRCm39)	T48A	probably benign	Het
Hyal5	T	A	6: 24,891,555 (GRCm39)	S456R	probably benign	Het
Igf1r	A	G	7: 67,839,781 (GRCm39)	D696G	probably benign	Het
Iqgap1	A	T	7: 80,452,906 (GRCm39)	V13D	probably benign	Het
Itgal	A	G	7: 126,916,492 (GRCm39)	N728S	probably benign	Het
Kcnb1	T	A	2: 166,947,946 (GRCm39)	I301F	probably damaging	Het
Kcnd3	A	G	3: 105,366,111 (GRCm39)		probably benign	Het
Kdm4a	C	T	4: 118,019,037 (GRCm39)	R393Q	probably benign	Het
Lcn9	G	A	2: 25,713,268 (GRCm39)		probably null	Het
Madcam1	T	A	10: 79,500,824 (GRCm39)	M47K	probably benign	Het
Matn3	A	G	12: 9,008,829 (GRCm39)	Q314R	probably benign	Het
Msh3	A	T	13: 92,386,386 (GRCm39)	D826E	possibly damaging	Het
Muc4	A	T	16: 32,595,213 (GRCm39)	T3088S	possibly damaging	Het
Mup3	T	G	4: 62,005,172 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,772,759 (GRCm39)	K1807E	probably damaging	Het
Myrip	A	G	9: 120,282,759 (GRCm39)	D688G	probably damaging	Het
Nup153	A	G	13: 46,840,452 (GRCm39)	F1052S	probably damaging	Het
Oplah	T	A	15: 76,181,547 (GRCm39)		probably benign	Het
Or4f14d	A	T	2: 111,960,223 (GRCm39)	I311K	probably benign	Het
Or52r1c	T	A	7: 102,734,728 (GRCm39)	M1K	probably null	Het
Or6z3	A	T	7: 6,463,993 (GRCm39)	I162F	possibly damaging	Het
Or9g19	A	T	2: 85,600,768 (GRCm39)	I208F	probably benign	Het
Pacsin2	A	G	15: 83,274,719 (GRCm39)	F120L	possibly damaging	Het
Ppp1r36	C	A	12: 76,485,931 (GRCm39)	P363Q	probably damaging	Het
Rai1	C	A	11: 60,081,347 (GRCm39)	H1804N	possibly damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rnf214	G	A	9: 45,779,386 (GRCm39)	P455S	probably damaging	Het
Rnf220	T	C	4: 117,134,809 (GRCm39)	T188A	possibly damaging	Het
S1pr4	C	T	10: 81,335,157 (GRCm39)	V106M	possibly damaging	Het
Sall2	C	A	14: 52,551,704 (GRCm39)	S495I	probably benign	Het
Sars2	A	G	7: 28,443,683 (GRCm39)	E95G	possibly damaging	Het
Sema3f	G	A	9: 107,559,815 (GRCm39)	T693M	probably damaging	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Snrpe	T	A	1: 133,536,652 (GRCm39)	I43L	probably benign	Het
Srsf1	T	C	11: 87,938,684 (GRCm39)	I7T	possibly damaging	Het
Ssbp1	T	A	6: 40,453,837 (GRCm39)		probably benign	Het
Stbd1	T	G	5: 92,752,854 (GRCm39)	F115V	probably benign	Het
Stk11ip	T	A	1: 75,503,999 (GRCm39)		probably null	Het
Taf1b	T	A	12: 24,550,524 (GRCm39)	N36K	probably damaging	Het
Tanc1	A	T	2: 59,630,248 (GRCm39)	M743L	probably benign	Het
Tnfsf12	C	A	11: 69,577,793 (GRCm39)	R208L	probably damaging	Het
Trim24	A	G	6: 37,934,664 (GRCm39)	E793G	probably damaging	Het
Tspan32	T	C	7: 142,569,324 (GRCm39)	C100R	probably damaging	Het
Ttn	T	C	2: 76,576,586 (GRCm39)	D16442G	probably damaging	Het
Ube3c	T	A	5: 29,863,407 (GRCm39)	L894Q	probably damaging	Het
Wfs1	C	G	5: 37,130,608 (GRCm39)	G213R	probably damaging	Het
Zfp384	G	A	6: 125,001,062 (GRCm39)	A45T	possibly damaging	Het
Zfp865	G	T	7: 5,034,086 (GRCm39)	K690N	probably damaging	Het

Other mutations in Trafd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01774:Trafd1	APN	5	121,513,113 (GRCm39)	missense	possibly damaging	0.93
IGL01951:Trafd1	APN	5	121,512,094 (GRCm39)	missense	possibly damaging	0.94
IGL01955:Trafd1	APN	5	121,513,217 (GRCm39)	missense	probably benign	0.00
R1136:Trafd1	UTSW	5	121,511,387 (GRCm39)	missense	possibly damaging	0.94
R1386:Trafd1	UTSW	5	121,517,715 (GRCm39)	missense	probably damaging	1.00
R1599:Trafd1	UTSW	5	121,517,720 (GRCm39)	missense	probably damaging	1.00
R2106:Trafd1	UTSW	5	121,511,274 (GRCm39)	missense	probably benign	0.00
R2989:Trafd1	UTSW	5	121,517,529 (GRCm39)	missense	probably damaging	0.99
R3895:Trafd1	UTSW	5	121,516,804 (GRCm39)	missense	probably benign	0.45
R4419:Trafd1	UTSW	5	121,511,396 (GRCm39)	missense	probably benign	0.00
R4536:Trafd1	UTSW	5	121,517,746 (GRCm39)	critical splice acceptor site	probably null
R4814:Trafd1	UTSW	5	121,512,079 (GRCm39)	missense	probably benign	0.01
R4822:Trafd1	UTSW	5	121,516,561 (GRCm39)	missense	probably damaging	1.00
R4939:Trafd1	UTSW	5	121,513,254 (GRCm39)	missense	probably benign	0.00
R5560:Trafd1	UTSW	5	121,511,366 (GRCm39)	missense	possibly damaging	0.68
R5980:Trafd1	UTSW	5	121,511,520 (GRCm39)	missense	probably damaging	0.99
R5982:Trafd1	UTSW	5	121,511,342 (GRCm39)	missense	probably damaging	1.00
R6919:Trafd1	UTSW	5	121,522,137 (GRCm39)	nonsense	probably null
R8128:Trafd1	UTSW	5	121,510,465 (GRCm39)	missense	possibly damaging	0.89
R8265:Trafd1	UTSW	5	121,511,340 (GRCm39)	missense	possibly damaging	0.95
R8756:Trafd1	UTSW	5	121,513,878 (GRCm39)	missense	probably damaging	1.00
R9046:Trafd1	UTSW	5	121,513,189 (GRCm39)	missense	probably benign
R9130:Trafd1	UTSW	5	121,516,573 (GRCm39)	missense	probably benign	0.01
R9173:Trafd1	UTSW	5	121,516,598 (GRCm39)	missense	possibly damaging	0.78
R9513:Trafd1	UTSW	5	121,516,837 (GRCm39)	missense	possibly damaging	0.89
R9699:Trafd1	UTSW	5	121,517,727 (GRCm39)	missense	probably benign	0.03
Z1176:Trafd1	UTSW	5	121,515,933 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTTGAGTTTCAGCACACCG -3'
(R):5'- TTAAACCATCTTGCTGGGTGCG -3'

Sequencing Primer
(F):5'- CGGGAGGGCTACGCTGG -3'
(R):5'- GTGCGTGTTTCTGAAACTTCACAC -3'

Posted On

2017-02-10