Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Tnip1'

285603

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnip1

Ensembl Gene

ENSMUSG00000020400

Gene Name

TNFAIP3 interacting protein 1

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

54910785-54962917 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54936471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 155 (T155M)

Ref Sequence

ENSEMBL: ENSMUSP00000116721 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018482
AA Change: T155M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400
AA Change: T155M

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: ENSMUST00000102730
AA Change: T155M

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

SMART Domains

Protein: ENSMUSP00000099791
Gene: ENSMUSG00000020400
AA Change: T155M

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 benign
Transcript: ENSMUST00000102731
AA Change: T155M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400
AA Change: T155M

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
AA Change: T102M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400
AA Change: T102M

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
AA Change: T102M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400
AA Change: T102M

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: ENSMUST00000108889
AA Change: T155M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400
AA Change: T155M

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

possibly damaging
Transcript: ENSMUST00000126703
AA Change: T102M

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122836
Gene: ENSMUSG00000020400
AA Change: T102M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151736

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155316
AA Change: T155M

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116721
Gene: ENSMUSG00000020400
AA Change: T155M

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	G	10: 77,982,950	N152D	possibly damaging	Het
Acsl1	A	G	8: 46,534,365	E662G	probably benign	Het
Acss3	A	G	10: 107,045,335	S262P	probably benign	Het
Agap1	T	C	1: 89,663,775	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,473,404	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,926,152	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,562,190	H485N	probably benign	Het
Atrip	A	G	9: 109,061,664	S91P	possibly damaging	Het
Bcorl1	T	C	X: 48,369,360	V590A	probably benign	Het
Brf1	C	A	12: 112,961,774	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,148,922	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,256,452	V163A	probably damaging	Het
Cct6b	T	C	11: 82,741,391	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 180,094,424	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,629,586	V434I	probably benign	Het
Cltc	C	T	11: 86,697,340	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,051,263	F473L	probably benign	Het
Dock3	T	C	9: 107,062,055	K165E	probably damaging	Het
Duox2	A	T	2: 122,285,153		probably benign	Het
Epha7	A	G	4: 28,821,587	S251G	possibly damaging	Het
Epn1	T	A	7: 5,095,036	V282E	probably benign	Het
Fat1	T	C	8: 45,023,659	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,256,367	I611T	possibly damaging	Het
Fgd6	G	T	10: 94,134,084	M1198I	probably damaging	Het
Frmpd4	T	A	X: 167,492,935	I379F	probably damaging	Het
Gm6614	A	T	6: 141,993,675	C197*	probably null	Het
Grk4	T	A	5: 34,694,782	D123E	probably benign	Het
Hc	T	G	2: 35,009,911		probably benign	Het
Hephl1	T	C	9: 15,069,793	Y781C	probably damaging	Het
Hfe	T	C	13: 23,706,943	E71G	probably benign	Het
Hk1	A	G	10: 62,281,140		probably benign	Het
Ifnk	G	A	4: 35,152,642		probably benign	Het
Kcnv1	C	A	15: 45,114,274	G123C	probably damaging	Het
Kdelc2	T	C	9: 53,388,479	L96S	probably damaging	Het
Klhl38	A	T	15: 58,323,237	I32N	possibly damaging	Het
Lpl	T	C	8: 68,895,800	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,953,857	S196C	probably damaging	Het
Mta1	T	C	12: 113,120,908	L91P	possibly damaging	Het
Nelfe	C	A	17: 34,854,354	D288E	probably benign	Het
Olfr491	T	A	7: 108,317,201	C102*	probably null	Het
Otof	T	C	5: 30,370,784	E1905G	probably damaging	Het
Pck2	T	C	14: 55,543,866	I148T	probably benign	Het
Plcl2	G	T	17: 50,606,397	V145F	probably damaging	Het
Plec	A	G	15: 76,172,274	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,752,089	E641G	probably damaging	Het
Ppp1r12a	C	T	10: 108,269,324	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,518,245	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,660,175		probably benign	Het
Psmb1	A	T	17: 15,490,284	M1K	probably null	Het
Pwwp2a	T	C	11: 43,705,621	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,672,753	R516W	probably damaging	Het
Rnf103	A	G	6: 71,510,188	D601G	probably benign	Het
Senp3	A	G	11: 69,674,530	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,315,683	T121P	probably damaging	Het
Srrt	G	A	5: 137,296,274	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,933,454		probably null	Het
Tas2r129	G	A	6: 132,951,394	W98*	probably null	Het
Thoc5	A	C	11: 4,926,217	M609L	probably benign	Het
Ttn	A	G	2: 76,788,328	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,459,781	E61G	probably benign	Het
Usp32	T	C	11: 84,986,481	K151E	probably damaging	Het
Vmn2r121	T	C	X: 124,132,681	M260V	probably benign	Het
Vwa7	G	T	17: 35,020,084	R345L	probably damaging	Het
Zfp366	G	T	13: 99,234,188	R472L	possibly damaging	Het
Zfp811	A	T	17: 32,798,642	Y141*	probably null	Het
Zpbp	C	T	11: 11,415,248	E200K	probably benign	Het

Other mutations in Tnip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Tnip1	APN	11	54940817	nonsense	probably null
IGL02045:Tnip1	APN	11	54911539	makesense	probably null
IGL03093:Tnip1	APN	11	54940826	nonsense	probably null
trinity	UTSW	11	54939596	critical splice donor site	probably null
R0480:Tnip1	UTSW	11	54937994	missense	probably damaging	0.96
R0511:Tnip1	UTSW	11	54917873	missense	probably damaging	1.00
R2974:Tnip1	UTSW	11	54933983	unclassified	probably benign
R4059:Tnip1	UTSW	11	54911569	missense	probably benign	0.01
R4475:Tnip1	UTSW	11	54939596	critical splice donor site	probably null
R4509:Tnip1	UTSW	11	54926790	missense	probably benign	0.00
R4510:Tnip1	UTSW	11	54926790	missense	probably benign	0.00
R4511:Tnip1	UTSW	11	54926790	missense	probably benign	0.00
R4702:Tnip1	UTSW	11	54924402	missense	probably benign	0.03
R4784:Tnip1	UTSW	11	54915539	missense	possibly damaging	0.66
R5008:Tnip1	UTSW	11	54937984	missense	probably benign	0.01
R5461:Tnip1	UTSW	11	54910799	unclassified	probably benign
R6050:Tnip1	UTSW	11	54917877	missense	probably damaging	1.00
R6992:Tnip1	UTSW	11	54918716	missense	probably benign	0.01
R7198:Tnip1	UTSW	11	54917804	missense	probably benign	0.00
R7730:Tnip1	UTSW	11	54937979	missense	probably benign	0.00
R8503:Tnip1	UTSW	11	54936465	missense	probably benign
R9273:Tnip1	UTSW	11	54916957	missense	possibly damaging	0.64
R9680:Tnip1	UTSW	11	54938050	missense	possibly damaging	0.62

Posted On

2015-04-16