Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00094:Tnip1'

1175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnip1

Ensembl Gene

ENSMUSG00000020400

Gene Name

TNFAIP3 interacting protein 1

Synonyms

ABIN1, VAN, Nef, A20-binding inhibitor of NF-kappa B activation

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00094

Quality Score

Status

Chromosome

Chromosomal Location

54801611-54853743 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 54831643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 10 (Y10*)

Ref Sequence

ENSEMBL: ENSMUSP00000116721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018482] [ENSMUST00000102730] [ENSMUST00000102731] [ENSMUST00000108885] [ENSMUST00000108886] [ENSMUST00000108889] [ENSMUST00000155316] [ENSMUST00000126703]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000018482
AA Change: Y10*

SMART Domains

Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400
AA Change: Y10*

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	2e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102730
AA Change: Y10*

SMART Domains

Protein: ENSMUSP00000099791
Gene: ENSMUSG00000020400
AA Change: Y10*

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	3e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	627	640	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102731
AA Change: Y10*

SMART Domains

Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400
AA Change: Y10*

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	2e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108885

SMART Domains

Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
low complexity region	49	62	N/A	INTRINSIC
coiled coil region	162	213	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC
SCOP:d1bg1a1	289	458	5e-4	SMART
low complexity region	466	490	N/A	INTRINSIC
low complexity region	507	524	N/A	INTRINSIC
low complexity region	533	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108886

SMART Domains

Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
low complexity region	49	62	N/A	INTRINSIC
coiled coil region	162	213	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC
SCOP:d1bg1a1	289	458	5e-4	SMART
low complexity region	466	490	N/A	INTRINSIC
low complexity region	507	524	N/A	INTRINSIC
low complexity region	533	546	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108889
AA Change: Y10*

SMART Domains

Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400
AA Change: Y10*

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	2e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124304

Predicted Effect

probably null
Transcript: ENSMUST00000155316
AA Change: Y10*

SMART Domains

Protein: ENSMUSP00000116721
Gene: ENSMUSG00000020400
AA Change: Y10*

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151736

Predicted Effect

probably benign
Transcript: ENSMUST00000126703

SMART Domains

Protein: ENSMUSP00000122836
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
low complexity region	49	62	N/A	INTRINSIC
coiled coil region	162	213	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit perinatal lethality associated with anemia and focal apoptosis in the fetal liver. Mice homozygous for a gene trap allele exhibit partial prenatal lethality and SLE-like inflammatory disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,591,254 (GRCm39)	N547K	probably benign	Het
Abca13	A	G	11: 9,247,443 (GRCm39)	T2397A	probably benign	Het
Abcc1	A	G	16: 14,288,398 (GRCm39)	N1341S	probably null	Het
Adcy9	T	A	16: 4,122,446 (GRCm39)	I535L	probably benign	Het
Akap6	A	G	12: 53,187,763 (GRCm39)	S1726G	possibly damaging	Het
Ap3d1	T	C	10: 80,577,813 (GRCm39)	M5V	probably benign	Het
Ash1l	T	A	3: 88,889,019 (GRCm39)	N299K	probably benign	Het
B3gnt2	C	T	11: 22,786,151 (GRCm39)	V346I	probably benign	Het
Ceacam14	G	A	7: 17,548,062 (GRCm39)	V51I	probably damaging	Het
Cfap69	T	C	5: 5,634,682 (GRCm39)	D812G	probably damaging	Het
Cfap97d1	A	G	11: 101,881,646 (GRCm39)	E114G	possibly damaging	Het
Chrna9	T	C	5: 66,126,600 (GRCm39)	V118A	probably benign	Het
Cpsf7	A	G	19: 10,517,151 (GRCm39)	R418G	probably damaging	Het
Csnk1g3	T	C	18: 54,052,075 (GRCm39)	Y215H	probably damaging	Het
Dcaf5	A	C	12: 80,386,097 (GRCm39)	N676K	probably benign	Het
Dld	A	T	12: 31,385,576 (GRCm39)	M255K	probably benign	Het
Esr2	A	T	12: 76,180,670 (GRCm39)	L417H	probably damaging	Het
Fsip2	T	A	2: 82,820,730 (GRCm39)	S5488T	probably benign	Het
Gatb	A	T	3: 85,509,227 (GRCm39)	I130L	possibly damaging	Het
Gbp9	T	C	5: 105,229,130 (GRCm39)	K506E	probably benign	Het
Hkdc1	T	C	10: 62,229,568 (GRCm39)	N703S	probably damaging	Het
Itgb3	T	A	11: 104,524,410 (GRCm39)	V182E	probably damaging	Het
Itih4	A	T	14: 30,617,426 (GRCm39)	Y582F	probably damaging	Het
Lancl2	T	A	6: 57,701,522 (GRCm39)		probably benign	Het
Lgals3	A	G	14: 47,622,175 (GRCm39)	K197R	probably benign	Het
Lipe	T	C	7: 25,082,977 (GRCm39)	T767A	probably damaging	Het
Lrp2	T	A	2: 69,338,123 (GRCm39)	D1219V	probably damaging	Het
Lrriq3	T	A	3: 154,806,698 (GRCm39)	C116S	probably benign	Het
Mcm5	T	G	8: 75,851,573 (GRCm39)		probably null	Het
Mtpn	G	T	6: 35,499,711 (GRCm39)	T31K	probably damaging	Het
Mycbp2	A	T	14: 103,460,486 (GRCm39)	Y1494N	probably damaging	Het
Nbeal1	G	T	1: 60,274,350 (GRCm39)	E498*	probably null	Het
Nos1	T	G	5: 118,048,165 (GRCm39)	S657A	probably damaging	Het
Nr3c1	A	T	18: 39,561,661 (GRCm39)		probably null	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or13a17	A	T	7: 140,271,349 (GRCm39)	H177L	probably damaging	Het
Or4c127	T	A	2: 89,833,365 (GRCm39)	I205N	possibly damaging	Het
Or7g32	T	A	9: 19,408,155 (GRCm39)	I37N	probably damaging	Het
Or8g20	T	C	9: 39,395,944 (GRCm39)	I202V	probably benign	Het
Or8s8	T	G	15: 98,354,299 (GRCm39)	V36G	possibly damaging	Het
Or9i1	A	T	19: 13,839,150 (GRCm39)		probably benign	Het
Osbp2	T	G	11: 3,661,848 (GRCm39)	S735R	probably benign	Het
Otop3	A	T	11: 115,235,279 (GRCm39)	T304S	probably benign	Het
Pcdhac2	A	T	18: 37,278,128 (GRCm39)	L369F	probably damaging	Het
Pick1	T	C	15: 79,131,457 (GRCm39)		probably benign	Het
Prlhr	A	T	19: 60,456,119 (GRCm39)	V149E	probably damaging	Het
Prss12	G	A	3: 123,280,598 (GRCm39)		probably benign	Het
Rab19	A	T	6: 39,365,132 (GRCm39)		probably benign	Het
Ralgapb	T	C	2: 158,262,776 (GRCm39)	W5R	probably damaging	Het
Rfx4	T	A	10: 84,676,063 (GRCm39)	L44Q	probably damaging	Het
Scube2	T	C	7: 109,407,661 (GRCm39)	T760A	probably damaging	Het
Shcbp1	A	C	8: 4,804,258 (GRCm39)	Y145*	probably null	Het
Snx31	T	A	15: 36,545,761 (GRCm39)		probably null	Het
Spopl	A	T	2: 23,427,643 (GRCm39)	V163E	possibly damaging	Het
Sqor	T	C	2: 122,629,463 (GRCm39)	I107T	probably damaging	Het
Tcte1	T	C	17: 45,845,854 (GRCm39)	F153L	probably damaging	Het
Tnfrsf11b	T	A	15: 54,123,238 (GRCm39)	H121L	probably damaging	Het
Tnxb	G	T	17: 34,904,603 (GRCm39)	G1123C	probably damaging	Het
Wdr62	T	C	7: 29,942,948 (GRCm39)	E515G	probably benign	Het
Zfand1	A	T	3: 10,413,590 (GRCm39)	D32E	probably null	Het
Zfp112	A	C	7: 23,821,668 (GRCm39)	T3P	probably damaging	Het

Other mutations in Tnip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02045:Tnip1	APN	11	54,802,365 (GRCm39)	makesense	probably null
IGL02227:Tnip1	APN	11	54,827,297 (GRCm39)	missense	possibly damaging	0.90
IGL03093:Tnip1	APN	11	54,831,652 (GRCm39)	nonsense	probably null
trinity	UTSW	11	54,830,422 (GRCm39)	critical splice donor site	probably null
R0480:Tnip1	UTSW	11	54,828,820 (GRCm39)	missense	probably damaging	0.96
R0511:Tnip1	UTSW	11	54,808,699 (GRCm39)	missense	probably damaging	1.00
R2974:Tnip1	UTSW	11	54,824,809 (GRCm39)	unclassified	probably benign
R4059:Tnip1	UTSW	11	54,802,395 (GRCm39)	missense	probably benign	0.01
R4475:Tnip1	UTSW	11	54,830,422 (GRCm39)	critical splice donor site	probably null
R4509:Tnip1	UTSW	11	54,817,616 (GRCm39)	missense	probably benign	0.00
R4510:Tnip1	UTSW	11	54,817,616 (GRCm39)	missense	probably benign	0.00
R4511:Tnip1	UTSW	11	54,817,616 (GRCm39)	missense	probably benign	0.00
R4702:Tnip1	UTSW	11	54,815,228 (GRCm39)	missense	probably benign	0.03
R4784:Tnip1	UTSW	11	54,806,365 (GRCm39)	missense	possibly damaging	0.66
R5008:Tnip1	UTSW	11	54,828,810 (GRCm39)	missense	probably benign	0.01
R5461:Tnip1	UTSW	11	54,801,625 (GRCm39)	unclassified	probably benign
R6050:Tnip1	UTSW	11	54,808,703 (GRCm39)	missense	probably damaging	1.00
R6992:Tnip1	UTSW	11	54,809,542 (GRCm39)	missense	probably benign	0.01
R7198:Tnip1	UTSW	11	54,808,630 (GRCm39)	missense	probably benign	0.00
R7730:Tnip1	UTSW	11	54,828,805 (GRCm39)	missense	probably benign	0.00
R8503:Tnip1	UTSW	11	54,827,291 (GRCm39)	missense	probably benign
R9273:Tnip1	UTSW	11	54,807,783 (GRCm39)	missense	possibly damaging	0.64
R9680:Tnip1	UTSW	11	54,828,876 (GRCm39)	missense	possibly damaging	0.62

Posted On

2011-07-12