Mutagenetix > Incidental Mutation

Incidental Mutation 'R1381:Invs'

162995

Institutional Source

Beutler Lab

Gene Symbol

Invs

Ensembl Gene

ENSMUSG00000028344

Gene Name

inversin

Synonyms

MMRRC Submission

039443-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R1381 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

48279760-48431954 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 48421942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 858 (S858*)

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: S858*

SMART Domains

Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: S858*

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

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,561,430 (GRCm39)	F252L	probably benign	Het
Aadac	A	T	3: 59,947,351 (GRCm39)	M350L	probably damaging	Het
Agtrap	G	A	4: 148,168,422 (GRCm39)	T19I	probably damaging	Het
Apba3	C	T	10: 81,107,590 (GRCm39)	T142M	possibly damaging	Het
Cd55b	T	A	1: 130,347,412 (GRCm39)	K133I	probably damaging	Het
Cep295	A	C	9: 15,233,861 (GRCm39)	C2312G	probably benign	Het
Ces1a	A	G	8: 93,760,659 (GRCm39)	V231A	probably damaging	Het
Chdh	C	A	14: 29,758,791 (GRCm39)	L579I	probably damaging	Het
Cyb5r4	T	A	9: 86,904,286 (GRCm39)	S19T	probably benign	Het
Cyp2d22	C	A	15: 82,256,709 (GRCm39)	R355L	probably benign	Het
Dach2	T	C	X: 112,208,472 (GRCm39)	Y117H	probably damaging	Het
Dennd4c	G	A	4: 86,692,769 (GRCm39)	R93K	probably benign	Het
Dph2	G	T	4: 117,746,865 (GRCm39)	L452I	probably damaging	Het
Exoc6b	T	C	6: 84,812,099 (GRCm39)	D634G	probably benign	Het
Fam217b	G	A	2: 178,062,218 (GRCm39)	V61I	probably benign	Het
Fbln7	A	C	2: 128,719,299 (GRCm39)	Q32P	probably damaging	Het
Fgfr1op2	A	G	6: 146,490,239 (GRCm39)	Y46C	probably damaging	Het
Fhod3	T	A	18: 25,223,528 (GRCm39)	I958N	probably damaging	Het
Foxp2	T	A	6: 15,409,765 (GRCm39)	M455K	possibly damaging	Het
Gabrr2	G	A	4: 33,081,420 (GRCm39)	G152D	probably damaging	Het
Galntl6	G	T	8: 58,925,989 (GRCm39)	P92Q	probably damaging	Het
Gm5592	A	T	7: 40,935,596 (GRCm39)	T33S	probably benign	Het
Grid2ip	A	T	5: 143,348,406 (GRCm39)	T166S	probably benign	Het
Grsf1	G	A	5: 88,813,723 (GRCm39)	S225L	probably benign	Het
Hadha	G	T	5: 30,333,834 (GRCm39)	T395K	probably benign	Het
Hars2	C	T	18: 36,922,270 (GRCm39)	A295V	possibly damaging	Het
Hsf5	T	A	11: 87,528,995 (GRCm39)	S577T	probably benign	Het
Ice2	A	G	9: 69,307,809 (GRCm39)	Y31C	probably damaging	Het
Ift80	A	T	3: 68,822,116 (GRCm39)	I643N	possibly damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Ilvbl	C	A	10: 78,412,430 (GRCm39)	S50R	probably damaging	Het
Ipo13	T	G	4: 117,761,592 (GRCm39)	T508P	probably damaging	Het
Itgb4	T	C	11: 115,885,163 (GRCm39)	I1015T	probably benign	Het
Kank4	A	T	4: 98,668,175 (GRCm39)	W91R	probably damaging	Het
Kansl1l	C	T	1: 66,760,063 (GRCm39)	A906T	probably benign	Het
Klk4	G	A	7: 43,534,706 (GRCm39)	V222M	probably damaging	Het
Lipo4	T	A	19: 33,476,741 (GRCm39)	M336L	probably benign	Het
Lrig1	T	C	6: 94,583,111 (GRCm39)	N1002D	probably benign	Het
Lzts3	A	G	2: 130,477,219 (GRCm39)	S524P	probably damaging	Het
Maz	A	T	7: 126,622,324 (GRCm39)	C409*	probably null	Het
Mmp24	A	T	2: 155,656,047 (GRCm39)	Q495L	possibly damaging	Het
Mrgpra9	C	T	7: 46,885,050 (GRCm39)	V206I	possibly damaging	Het
Myof	A	G	19: 37,983,933 (GRCm39)	Y124H	probably damaging	Het
Nalcn	A	T	14: 123,551,517 (GRCm39)	V1030D	probably damaging	Het
Neb	T	A	2: 52,150,544 (GRCm39)	I2495F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nup153	T	C	13: 46,842,657 (GRCm39)	D837G	probably damaging	Het
Nup210	C	A	6: 91,052,942 (GRCm39)	G331V	probably damaging	Het
Or5b97	T	C	19: 12,878,320 (GRCm39)	T275A	probably benign	Het
Or5w18	T	C	2: 87,633,480 (GRCm39)	L245P	probably damaging	Het
Or6z7	A	G	7: 6,484,008 (GRCm39)		probably null	Het
Or8b56	T	A	9: 38,739,634 (GRCm39)	S210T	probably benign	Het
Pabpc4	T	A	4: 123,182,852 (GRCm39)	L163H	probably damaging	Het
Pcdh7	T	A	5: 57,878,882 (GRCm39)	Y126*	probably null	Het
Pdzd2	A	G	15: 12,385,525 (GRCm39)	S1082P	probably benign	Het
Pkd2l1	T	C	19: 44,138,902 (GRCm39)	I649M	probably benign	Het
Plcl2	G	A	17: 50,914,757 (GRCm39)	E589K	probably damaging	Het
Plppr1	C	A	4: 49,337,674 (GRCm39)	T325N	possibly damaging	Het
Prss8	GCTGCCCAAGTCCC	GC	7: 127,529,021 (GRCm39)		probably benign	Het
Ptcd2	A	G	13: 99,481,105 (GRCm39)	S25P	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rusc2	T	A	4: 43,416,137 (GRCm39)	V481E	probably damaging	Het
Sephs2	G	T	7: 126,872,139 (GRCm39)	T318K	probably damaging	Het
Sf3b1	T	A	1: 55,042,313 (GRCm39)	I497L	probably damaging	Het
Slc30a7	C	T	3: 115,750,519 (GRCm39)		probably null	Het
Slc66a2	T	G	18: 80,326,529 (GRCm39)	S126A	probably benign	Het
Smarca2	T	C	19: 26,608,228 (GRCm39)	S96P	probably damaging	Het
Spata31d1c	A	C	13: 65,184,368 (GRCm39)	I637L	probably benign	Het
Ston2	A	T	12: 91,707,266 (GRCm39)	S115T	probably damaging	Het
Tal2	A	C	4: 53,785,999 (GRCm39)	E60A	probably benign	Het
Tdpoz3	A	T	3: 93,733,447 (GRCm39)	T41S	probably benign	Het
Tent4b	T	A	8: 88,969,937 (GRCm39)	M203K	possibly damaging	Het
Tespa1	T	C	10: 130,196,560 (GRCm39)	I166T	probably benign	Het
Thsd7a	A	T	6: 12,555,438 (GRCm39)	C149S	probably damaging	Het
Trav6-1	T	A	14: 52,875,967 (GRCm39)		probably benign	Het
Txnl4a	T	C	18: 80,250,479 (GRCm39)	V25A	probably benign	Het
Utp4	C	A	8: 107,632,908 (GRCm39)	P297Q	probably benign	Het
Vmn1r34	T	C	6: 66,613,922 (GRCm39)	Y272C	probably damaging	Het
Vmn2r112	A	T	17: 22,837,467 (GRCm39)	I643F	probably damaging	Het
Vmn2r121	C	A	X: 123,037,837 (GRCm39)	G728W	probably damaging	Het
Vmn2r24	T	A	6: 123,763,692 (GRCm39)	S190T	probably damaging	Het
Zfp507	A	G	7: 35,475,435 (GRCm39)	V926A	possibly damaging	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
IGL00487:Invs	APN	4	48,407,689 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTCGCAGAAAAGACGCACC -3'
(R):5'- TCACTGGGACACCAGATAACACAGG -3'

Sequencing Primer
(F):5'- CCATCAGCTCAGAGACAGG -3'
(R):5'- TGTCACGATGGCAGAACC -3'

Posted On

2014-03-17