Mutagenetix > Incidental Mutation

Incidental Mutation 'R1928:Invs'

215028

Institutional Source

Beutler Lab

Gene Symbol

Invs

Ensembl Gene

ENSMUSG00000028344

Gene Name

inversin

Synonyms

MMRRC Submission

039946-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.690) question?

Stock #

R1928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48279760-48431954 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48390095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 251 (Y251C)

Ref Sequence

ENSEMBL: ENSMUSP00000030029 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030029
AA Change: Y251C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: Y251C

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

noncoding transcript
Transcript: ENSMUST00000129480

Predicted Effect

probably damaging
Transcript: ENSMUST00000143433
AA Change: Y195C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344
AA Change: Y195C

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

Meta Mutation Damage Score

0.2141

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

98% (120/123)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	G	6: 132,626,601	Q64P	unknown	Het
Adgrv1	A	T	13: 81,520,786	F1830L	probably benign	Het
Anks3	C	T	16: 4,946,054		probably null	Het
Aqp12	G	A	1: 93,006,610	D70N	probably damaging	Het
B4galnt4	C	T	7: 141,068,148	R526*	probably null	Het
Best2	A	G	8: 85,011,253	F171S	probably benign	Het
C2cd5	A	T	6: 143,013,230	V965D	probably damaging	Het
Cd33	T	C	7: 43,529,879	E282G	probably benign	Het
Cep95	C	T	11: 106,790,728		probably benign	Het
Chd6	A	T	2: 160,968,000		probably benign	Het
Clec4d	A	T	6: 123,267,161		probably null	Het
Cntd1	C	T	11: 101,283,852	S128L	probably damaging	Het
Col19a1	T	C	1: 24,451,754		probably benign	Het
Ctrb1	C	A	8: 111,688,692	V117L	probably benign	Het
Dclk1	T	C	3: 55,247,521	V124A	possibly damaging	Het
Dcp2	T	C	18: 44,405,571		probably null	Het
Dctn1	C	A	6: 83,199,184		probably benign	Het
E330009J07Rik	A	G	6: 40,411,714	F238L	probably benign	Het
Ephb3	T	A	16: 21,222,295	M701K	possibly damaging	Het
Ero1lb	A	G	13: 12,601,759	E359G	probably damaging	Het
Exosc8	G	T	3: 54,728,845	A255E	probably damaging	Het
Fam155a	T	C	8: 9,770,217	T268A	probably benign	Het
Fam160a1	G	A	3: 85,688,531	P349L	probably damaging	Het
Fndc3c1	C	T	X: 106,433,522	A824T	probably benign	Het
Gja10	G	A	4: 32,601,812	Q191*	probably null	Het
Gm1587	C	T	14: 77,798,848	R6Q	unknown	Het
Gm3409	A	G	5: 146,539,608	I190V	probably benign	Het
Gm4952	G	T	19: 12,623,609	M64I	probably damaging	Het
Gramd1b	C	T	9: 40,306,469	M595I	possibly damaging	Het
Grik1	C	T	16: 88,051,353	V176M	probably damaging	Het
Grin2b	A	G	6: 136,044,046	C86R	probably damaging	Het
Gtse1	C	T	15: 85,862,063		probably benign	Het
Hectd2	T	C	19: 36,612,319	Y615H	probably damaging	Het
Hydin	T	C	8: 110,502,947	F1552S	possibly damaging	Het
Ifi207	A	G	1: 173,729,645	V516A	possibly damaging	Het
Igfbp5	G	T	1: 72,874,025	P39T	probably damaging	Het
Il23r	T	A	6: 67,423,735	D537V	possibly damaging	Het
Isl1	G	T	13: 116,308,417	H25Q	probably damaging	Het
Kif13a	A	G	13: 46,812,745	L399P	probably damaging	Het
Klhl1	A	G	14: 96,346,789	V335A	probably benign	Het
Klhl14	C	A	18: 21,651,786	A195S	probably damaging	Het
Lepr	A	G	4: 101,782,730		probably benign	Het
Map1b	A	C	13: 99,430,946	S1756A	unknown	Het
Med23	C	T	10: 24,909,812	A877V	probably benign	Het
Mfsd4b2	T	C	10: 39,921,462	Y299C	probably damaging	Het
Mipol1	T	A	12: 57,332,419	M221K	probably damaging	Het
Muc4	A	T	16: 32,750,532	S137C	probably damaging	Het
Mutyh	T	C	4: 116,816,658	Y189H	probably damaging	Het
Nabp2	T	C	10: 128,409,313	T21A	possibly damaging	Het
Nell1	T	A	7: 50,701,195	V530E	possibly damaging	Het
Npc1	G	C	18: 12,213,378	P254A	possibly damaging	Het
Nup153	A	G	13: 46,701,026	V530A	probably damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr16	T	C	1: 172,957,314	V173A	probably damaging	Het
Olfr747	A	G	14: 50,681,415	V73A	probably benign	Het
Olfr873	T	C	9: 20,301,058	V287A	probably benign	Het
Pabpc1l	T	A	2: 164,032,254	I193N	possibly damaging	Het
Pabpc4l	A	G	3: 46,446,631	Y193H	probably damaging	Het
Pank1	T	C	19: 34,878,881	S66G	probably benign	Het
Pcdhb1	A	T	18: 37,266,180	K395*	probably null	Het
Pcna	A	G	2: 132,251,897		probably benign	Het
Pgr	T	A	9: 8,903,629	Y550*	probably null	Het
Phf11a	A	G	14: 59,281,867		probably benign	Het
Pkhd1	A	T	1: 20,081,300		probably benign	Het
Pofut2	T	A	10: 77,260,808	Y122*	probably null	Het
Pole	A	G	5: 110,327,778	M1818V	probably benign	Het
Rapgef3	A	G	15: 97,750,033	L696P	probably damaging	Het
Rasal3	T	C	17: 32,397,353	D310G	probably damaging	Het
Rhoq	A	G	17: 86,995,058	K141E	probably benign	Het
Rilpl1	A	G	5: 124,514,750		probably benign	Het
Rnaseh1	T	C	12: 28,653,089	S91P	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Saa1	C	A	7: 46,742,432	G31W	probably null	Het
Scaf8	A	G	17: 3,168,077	T241A	unknown	Het
Scarb2	C	T	5: 92,444,266	A473T	possibly damaging	Het
Scnn1b	T	C	7: 121,910,447	F273S	probably damaging	Het
Sdccag8	T	C	1: 176,828,970	V136A	probably damaging	Het
Sdr16c6	A	T	4: 4,069,926	V138E	probably damaging	Het
Sf3a3	G	A	4: 124,722,093	A180T	possibly damaging	Het
Slc16a5	T	A	11: 115,470,016	S342T	probably damaging	Het
Slc18a1	A	G	8: 69,073,812	S75P	probably benign	Het
Slc7a6	T	A	8: 106,193,488		probably benign	Het
Smco3	G	A	6: 136,831,847	Q10*	probably null	Het
Spem2	T	C	11: 69,817,464	Q225R	probably benign	Het
Ssb	G	T	2: 69,867,557		probably null	Het
Stx8	T	C	11: 68,109,280	I182T	probably damaging	Het
Synj2	T	A	17: 5,990,267	I121N	probably damaging	Het
Tbc1d1	T	C	5: 64,345,300	Y1055H	probably damaging	Het
Tex45	T	A	8: 3,486,947	I431K	possibly damaging	Het
Thbs3	G	T	3: 89,217,760	R52L	probably damaging	Het
Tmem101	C	T	11: 102,153,396	V222I	probably benign	Het
Tnks2	C	T	19: 36,845,668	Q112*	probably null	Het
Tnrc6b	T	A	15: 80,880,723	W809R	probably damaging	Het
Trib2	T	A	12: 15,815,453	R16S	probably damaging	Het
Trim12a	T	C	7: 104,307,124	N70D	probably damaging	Het
Trim55	T	A	3: 19,661,882		probably null	Het
Tspyl5	T	A	15: 33,687,007	D264V	probably damaging	Het
Ttn	A	G	2: 76,725,044	V30539A	probably damaging	Het
Tubgcp3	A	G	8: 12,663,988	F43S	possibly damaging	Het
Ube2cbp	A	G	9: 86,423,003	L262P	probably damaging	Het
Ugt1a7c	T	C	1: 88,095,929	V270A	probably benign	Het
Vav3	T	A	3: 109,506,422	F225L	possibly damaging	Het
Vmn1r21	G	T	6: 57,844,092	Y122*	probably null	Het
Vmn1r225	C	A	17: 20,502,809	Q171K	probably benign	Het
Vmn2r103	T	C	17: 19,811,767	V601A	possibly damaging	Het
Vmn2r19	T	A	6: 123,331,630	N555K	probably damaging	Het
Vps33a	G	A	5: 123,558,621	A323V	probably benign	Het
Wdr77	C	T	3: 105,967,302	P337S	probably benign	Het
Wnk1	A	T	6: 119,952,923	I93N	probably damaging	Het
Zbtb9	T	A	17: 26,974,638	I339N	probably damaging	Het
Zcchc6	A	G	13: 59,816,734	L209P	probably damaging	Het
Zfp202	T	A	9: 40,209,787	D241E	probably damaging	Het
Zfp235	T	A	7: 24,141,138	Y327*	probably null	Het
Zfp820	A	C	17: 21,819,335	D337E	probably benign	Het
Zfp944	T	C	17: 22,341,084	T14A	probably damaging	Het
Zfy1	A	G	Y: 729,733	V303A	unknown	Het
Zfyve26	C	T	12: 79,239,970	W2281*	probably null	Het

Other mutations in Invs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Invs	APN	4	48402909	missense	probably damaging	0.98
IGL00487:Invs	APN	4	48407689	nonsense	probably null
IGL01487:Invs	APN	4	48398136	missense	probably benign	0.26
IGL01696:Invs	APN	4	48425997	missense	probably damaging	1.00
IGL02238:Invs	APN	4	48390029	missense	probably damaging	1.00
IGL03286:Invs	APN	4	48382261	missense	probably benign	0.26
R0645:Invs	UTSW	4	48407653	missense	probably benign	0.00
R0661:Invs	UTSW	4	48421861	missense	probably benign
R0698:Invs	UTSW	4	48396364	missense	probably benign	0.04
R0763:Invs	UTSW	4	48392628	missense	possibly damaging	0.82
R1183:Invs	UTSW	4	48421725	missense	possibly damaging	0.68
R1381:Invs	UTSW	4	48421942	nonsense	probably null
R1511:Invs	UTSW	4	48382148	missense	possibly damaging	0.82
R1843:Invs	UTSW	4	48422035	missense	probably damaging	0.96
R1903:Invs	UTSW	4	48402824	splice site	probably null
R1990:Invs	UTSW	4	48392599	missense	possibly damaging	0.88
R2063:Invs	UTSW	4	48396287	missense	probably damaging	1.00
R2064:Invs	UTSW	4	48396287	missense	probably damaging	1.00
R2065:Invs	UTSW	4	48396287	missense	probably damaging	1.00
R2066:Invs	UTSW	4	48396287	missense	probably damaging	1.00
R4744:Invs	UTSW	4	48397609	missense	probably damaging	1.00
R4997:Invs	UTSW	4	48396332	missense	probably damaging	0.98
R5011:Invs	UTSW	4	48421807	missense	probably damaging	1.00
R5013:Invs	UTSW	4	48421807	missense	probably damaging	1.00
R5083:Invs	UTSW	4	48396307	missense	possibly damaging	0.90
R5184:Invs	UTSW	4	48283242	utr 5 prime	probably benign
R5258:Invs	UTSW	4	48396374	missense	possibly damaging	0.82
R5375:Invs	UTSW	4	48385262	missense	probably benign	0.12
R5509:Invs	UTSW	4	48396337	missense	probably damaging	1.00
R5560:Invs	UTSW	4	48416084	missense	probably benign	0.00
R5748:Invs	UTSW	4	48307823	missense	probably damaging	0.98
R5813:Invs	UTSW	4	48398146	missense	probably damaging	0.98
R5840:Invs	UTSW	4	48396284	missense	probably damaging	1.00
R5984:Invs	UTSW	4	48421674	missense	probably benign	0.00
R6513:Invs	UTSW	4	48397534	missense	possibly damaging	0.46
R6637:Invs	UTSW	4	48416203	splice site	probably null
R6667:Invs	UTSW	4	48402870	missense	possibly damaging	0.66
R6838:Invs	UTSW	4	48283278	missense	possibly damaging	0.95
R6921:Invs	UTSW	4	48396260	missense	possibly damaging	0.46
R6945:Invs	UTSW	4	48421785	missense	probably benign	0.00
R7102:Invs	UTSW	4	48407674	missense	probably benign	0.21
R7142:Invs	UTSW	4	48407696	missense	probably damaging	1.00
R7263:Invs	UTSW	4	48396381	missense	probably damaging	1.00
R7283:Invs	UTSW	4	48392526	splice site	probably null
R7461:Invs	UTSW	4	48392668	missense	probably damaging	1.00
R7503:Invs	UTSW	4	48396347	missense	probably damaging	0.96
R7581:Invs	UTSW	4	48421909	missense	probably benign	0.00
R7613:Invs	UTSW	4	48392668	missense	probably damaging	1.00
R7861:Invs	UTSW	4	48397559	missense	possibly damaging	0.50
R8316:Invs	UTSW	4	48426199	missense	possibly damaging	0.68
R8321:Invs	UTSW	4	48283267	missense	probably benign	0.13
R8500:Invs	UTSW	4	48422109	missense	probably damaging	1.00
R8544:Invs	UTSW	4	48397598	missense	probably damaging	0.96
R9171:Invs	UTSW	4	48398149	missense	possibly damaging	0.90
R9663:Invs	UTSW	4	48426218	missense	probably damaging	1.00
X0026:Invs	UTSW	4	48398221	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AACGTGCAGGTTTCGTTTTAAG -3'
(R):5'- GGAGCCGGGTTATGAGATAATC -3'

Sequencing Primer
(F):5'- AAGCATATTTATTGAGGGTTCTGC -3'
(R):5'- CCGGGTTATGAGATAATCGAGCATAG -3'

Posted On

2014-07-14