Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00487:Invs'

6674

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Invs

Ensembl Gene

ENSMUSG00000028344

Gene Name

inversin

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

IGL00487

Quality Score

Status

Chromosome

Chromosomal Location

48279760-48431954 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 48407689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 555 (Q555*)

Ref Sequence

ENSEMBL: ENSMUSP00000030029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030029] [ENSMUST00000143433]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000030029
AA Change: Q555*

SMART Domains

Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: Q555*

Domain	Start	End	E-Value	Type
ANK	47	76	2.66e-5	SMART
ANK	80	110	1.8e-2	SMART
ANK	113	144	1.63e0	SMART
ANK	148	177	6.46e-4	SMART
ANK	181	215	3.44e1	SMART
ANK	220	250	1.11e-2	SMART
ANK	254	285	2.07e-2	SMART
ANK	288	317	3.18e-3	SMART
ANK	321	350	3.91e-3	SMART
ANK	356	385	2.28e-4	SMART
ANK	389	418	8.39e-3	SMART
ANK	422	451	3.76e-5	SMART
ANK	455	484	2.45e-4	SMART
ANK	488	517	1.31e-4	SMART
ANK	523	553	6.71e-2	SMART
IQ	554	576	5.75e-2	SMART
low complexity region	589	607	N/A	INTRINSIC
IQ	913	935	2.46e-1	SMART
low complexity region	973	989	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143433

SMART Domains

Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344

Domain	Start	End	E-Value	Type
ANK	47	76	2.66e-5	SMART
ANK	80	110	1.8e-2	SMART
ANK	113	144	1.63e0	SMART
ANK	164	194	1.11e-2	SMART
ANK	198	229	2.07e-2	SMART
ANK	232	261	3.18e-3	SMART
ANK	265	294	3.91e-3	SMART
ANK	300	329	2.28e-4	SMART
ANK	333	362	8.39e-3	SMART
ANK	366	395	3.76e-5	SMART
ANK	399	428	2.45e-4	SMART

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 a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Transgenic mice homozygous for an insertional mutation exhibit complete inversion of the L-R body axis, reversal of embryo turning, complex cardiac anomalies, an abnormally slow turbulent leftward nodal flow, and renal cyst formation. Most succumb to renal failure within 1 week of life. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,200,276 (GRCm39)		probably null	Het
Cfap251	T	G	5: 123,412,240 (GRCm39)	I84S	probably damaging	Het
Dusp23	T	C	1: 172,459,199 (GRCm39)		probably benign	Het
Mak16	T	C	8: 31,656,778 (GRCm39)	N9D	probably benign	Het
Mrps7	T	C	11: 115,495,684 (GRCm39)	I74T	possibly damaging	Het
Nlrp4a	T	G	7: 26,149,410 (GRCm39)	V339G	possibly damaging	Het
Nucb1	A	G	7: 45,151,075 (GRCm39)	L102P	probably damaging	Het
Pdp2	T	C	8: 105,320,829 (GRCm39)	M226T	probably benign	Het
Pik3r2	T	C	8: 71,223,073 (GRCm39)	D449G	probably damaging	Het
Rnf157	G	A	11: 116,253,181 (GRCm39)	P76S	probably benign	Het
Senp6	C	A	9: 80,021,120 (GRCm39)	Q267K	probably damaging	Het
Slc9a2	A	G	1: 40,781,818 (GRCm39)	E349G	probably damaging	Het
Snx14	G	T	9: 88,284,243 (GRCm39)	S475Y	probably damaging	Het
Vmn1r180	A	T	7: 23,651,948 (GRCm39)	H37L	probably benign	Het
Xrn1	A	T	9: 95,921,002 (GRCm39)	H1371L	probably benign	Het

Other mutations in Invs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Invs	APN	4	48,402,909 (GRCm39)	missense	probably damaging	0.98
IGL01487:Invs	APN	4	48,398,136 (GRCm39)	missense	probably benign	0.26
IGL01696:Invs	APN	4	48,425,997 (GRCm39)	missense	probably damaging	1.00
IGL02238:Invs	APN	4	48,390,029 (GRCm39)	missense	probably damaging	1.00
IGL03286:Invs	APN	4	48,382,261 (GRCm39)	missense	probably benign	0.26
R0645:Invs	UTSW	4	48,407,653 (GRCm39)	missense	probably benign	0.00
R0661:Invs	UTSW	4	48,421,861 (GRCm39)	missense	probably benign
R0698:Invs	UTSW	4	48,396,364 (GRCm39)	missense	probably benign	0.04
R0763:Invs	UTSW	4	48,392,628 (GRCm39)	missense	possibly damaging	0.82
R1183:Invs	UTSW	4	48,421,725 (GRCm39)	missense	possibly damaging	0.68
R1381:Invs	UTSW	4	48,421,942 (GRCm39)	nonsense	probably null
R1511:Invs	UTSW	4	48,382,148 (GRCm39)	missense	possibly damaging	0.82
R1843:Invs	UTSW	4	48,422,035 (GRCm39)	missense	probably damaging	0.96
R1903:Invs	UTSW	4	48,402,824 (GRCm39)	splice site	probably null
R1928:Invs	UTSW	4	48,390,095 (GRCm39)	missense	probably damaging	1.00
R1990:Invs	UTSW	4	48,392,599 (GRCm39)	missense	possibly damaging	0.88
R2063:Invs	UTSW	4	48,396,287 (GRCm39)	missense	probably damaging	1.00
R2064:Invs	UTSW	4	48,396,287 (GRCm39)	missense	probably damaging	1.00
R2065:Invs	UTSW	4	48,396,287 (GRCm39)	missense	probably damaging	1.00
R2066:Invs	UTSW	4	48,396,287 (GRCm39)	missense	probably damaging	1.00
R4744:Invs	UTSW	4	48,397,609 (GRCm39)	missense	probably damaging	1.00
R4997:Invs	UTSW	4	48,396,332 (GRCm39)	missense	probably damaging	0.98
R5011:Invs	UTSW	4	48,421,807 (GRCm39)	missense	probably damaging	1.00
R5013:Invs	UTSW	4	48,421,807 (GRCm39)	missense	probably damaging	1.00
R5083:Invs	UTSW	4	48,396,307 (GRCm39)	missense	possibly damaging	0.90
R5184:Invs	UTSW	4	48,283,242 (GRCm39)	utr 5 prime	probably benign
R5258:Invs	UTSW	4	48,396,374 (GRCm39)	missense	possibly damaging	0.82
R5375:Invs	UTSW	4	48,385,262 (GRCm39)	missense	probably benign	0.12
R5509:Invs	UTSW	4	48,396,337 (GRCm39)	missense	probably damaging	1.00
R5560:Invs	UTSW	4	48,416,084 (GRCm39)	missense	probably benign	0.00
R5748:Invs	UTSW	4	48,307,823 (GRCm39)	missense	probably damaging	0.98
R5813:Invs	UTSW	4	48,398,146 (GRCm39)	missense	probably damaging	0.98
R5840:Invs	UTSW	4	48,396,284 (GRCm39)	missense	probably damaging	1.00
R5984:Invs	UTSW	4	48,421,674 (GRCm39)	missense	probably benign	0.00
R6513:Invs	UTSW	4	48,397,534 (GRCm39)	missense	possibly damaging	0.46
R6637:Invs	UTSW	4	48,416,203 (GRCm39)	splice site	probably null
R6667:Invs	UTSW	4	48,402,870 (GRCm39)	missense	possibly damaging	0.66
R6838:Invs	UTSW	4	48,283,278 (GRCm39)	missense	possibly damaging	0.95
R6921:Invs	UTSW	4	48,396,260 (GRCm39)	missense	possibly damaging	0.46
R6945:Invs	UTSW	4	48,421,785 (GRCm39)	missense	probably benign	0.00
R7102:Invs	UTSW	4	48,407,674 (GRCm39)	missense	probably benign	0.21
R7142:Invs	UTSW	4	48,407,696 (GRCm39)	missense	probably damaging	1.00
R7263:Invs	UTSW	4	48,396,381 (GRCm39)	missense	probably damaging	1.00
R7283:Invs	UTSW	4	48,392,526 (GRCm39)	splice site	probably null
R7461:Invs	UTSW	4	48,392,668 (GRCm39)	missense	probably damaging	1.00
R7503:Invs	UTSW	4	48,396,347 (GRCm39)	missense	probably damaging	0.96
R7581:Invs	UTSW	4	48,421,909 (GRCm39)	missense	probably benign	0.00
R7613:Invs	UTSW	4	48,392,668 (GRCm39)	missense	probably damaging	1.00
R7861:Invs	UTSW	4	48,397,559 (GRCm39)	missense	possibly damaging	0.50
R8316:Invs	UTSW	4	48,426,199 (GRCm39)	missense	possibly damaging	0.68
R8321:Invs	UTSW	4	48,283,267 (GRCm39)	missense	probably benign	0.13
R8500:Invs	UTSW	4	48,422,109 (GRCm39)	missense	probably damaging	1.00
R8544:Invs	UTSW	4	48,397,598 (GRCm39)	missense	probably damaging	0.96
R9171:Invs	UTSW	4	48,398,149 (GRCm39)	missense	possibly damaging	0.90
R9663:Invs	UTSW	4	48,426,218 (GRCm39)	missense	probably damaging	1.00
X0026:Invs	UTSW	4	48,398,221 (GRCm39)	missense	possibly damaging	0.92

Posted On

2012-04-20