Mutagenetix > Incidental Mutation

Incidental Mutation 'R1990:Invs'

224862

Institutional Source

Beutler Lab

Gene Symbol

Invs

Ensembl Gene

ENSMUSG00000028344

Gene Name

inversin

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R1990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48279760-48431954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48392599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 271 (V271A)

Ref Sequence

ENSEMBL: ENSMUSP00000030029 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030029
AA Change: V271A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
AA Change: V271A

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 benign
Transcript: ENSMUST00000143433
AA Change: V215A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344
AA Change: V215A

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,771,419 (GRCm39)	R203*	probably null	Het
Acp6	T	C	3: 97,083,054 (GRCm39)	L355P	probably damaging	Het
Aebp2	T	C	6: 140,579,464 (GRCm39)	S234P	probably damaging	Het
Anapc7	A	G	5: 122,577,567 (GRCm39)	D374G	probably benign	Het
Apob	A	T	12: 8,051,039 (GRCm39)	I1088F	probably damaging	Het
Arid4b	T	C	13: 14,307,021 (GRCm39)	V92A	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Asxl2	G	T	12: 3,534,558 (GRCm39)	G252*	probably null	Het
Atl1	A	T	12: 70,010,102 (GRCm39)	K556M	probably damaging	Het
AU018091	A	G	7: 3,212,104 (GRCm39)	V206A	probably benign	Het
Bcas1	A	T	2: 170,212,397 (GRCm39)	D383E	possibly damaging	Het
Bmx	A	G	X: 163,015,192 (GRCm39)	W257R	probably benign	Het
Bpifb6	T	C	2: 153,747,270 (GRCm39)		probably null	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Cand1	A	G	10: 119,045,972 (GRCm39)	S978P	probably damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Caps2	G	A	10: 112,036,591 (GRCm39)	A384T	probably benign	Het
Catsperg2	A	T	7: 29,420,470 (GRCm39)	Y223*	probably null	Het
Cd81	G	T	7: 142,620,938 (GRCm39)	G206*	probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkn2aip	G	T	8: 48,165,211 (GRCm39)	N167K	probably benign	Het
Ceacam14	T	A	7: 17,549,290 (GRCm39)	L227*	probably null	Het
Ceacam5	A	T	7: 17,491,805 (GRCm39)	D725V	probably damaging	Het
Cldn34a	A	T	X: 151,346,841 (GRCm39)	H171L	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cp	A	G	3: 20,033,177 (GRCm39)	D667G	probably damaging	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Crat	A	G	2: 30,295,060 (GRCm39)	Y452H	possibly damaging	Het
Cyp4f13	T	A	17: 33,144,542 (GRCm39)	H318L	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dmbt1	A	G	7: 130,660,018 (GRCm39)	N527S	probably damaging	Het
Fcgbpl1	A	T	7: 27,853,785 (GRCm39)	D1583V	probably damaging	Het
Fgb	G	T	3: 82,951,560 (GRCm39)	Y256*	probably null	Het
Frmd3	T	A	4: 74,105,676 (GRCm39)	S441T	probably damaging	Het
Glp1r	T	A	17: 31,149,722 (GRCm39)	C329S	possibly damaging	Het
Gm14190	G	T	11: 99,581,431 (GRCm39)	Q46K	unknown	Het
Golt1b	T	A	6: 142,338,080 (GRCm39)	F17Y	probably damaging	Het
Gsdmc	A	G	15: 63,673,748 (GRCm39)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,700,086 (GRCm39)	M229L	probably benign	Het
Gulp1	A	C	1: 44,805,274 (GRCm39)	N121T	possibly damaging	Het
Ift122	T	A	6: 115,901,328 (GRCm39)	F1037I	probably damaging	Het
Ildr1	A	T	16: 36,536,568 (GRCm39)	Y199F	probably damaging	Het
Ints2	T	A	11: 86,139,760 (GRCm39)	H278L	possibly damaging	Het
Kcnj2	T	C	11: 110,963,709 (GRCm39)	I367T	probably benign	Het
Kif21b	T	C	1: 136,089,508 (GRCm39)	S1115P	probably damaging	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Lcmt2	C	A	2: 120,970,762 (GRCm39)	R107L	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc9	A	C	12: 72,544,635 (GRCm39)	R71S	probably damaging	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mis18bp1	T	C	12: 65,205,468 (GRCm39)	T235A	probably benign	Het
Mta2	C	T	19: 8,919,696 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nek10	A	G	14: 14,860,764 (GRCm38)	T467A	probably benign	Het
Nexn	A	T	3: 151,958,576 (GRCm39)	F106I	probably damaging	Het
Nrdc	T	A	4: 108,896,972 (GRCm39)	Y282*	probably null	Het
Nxf3	G	A	X: 134,976,583 (GRCm39)	P380S	possibly damaging	Het
Oma1	C	T	4: 103,178,971 (GRCm39)	T208I	probably damaging	Het
Or1a1	T	C	11: 74,086,989 (GRCm39)	V220A	probably damaging	Het
Or4c31	A	G	2: 88,291,686 (GRCm39)	M1V	probably null	Het
Or4d10c	C	A	19: 12,065,620 (GRCm39)	V179F	probably damaging	Het
Or4p21	A	G	2: 88,277,033 (GRCm39)	L83P	probably damaging	Het
Or51a42	A	T	7: 103,708,335 (GRCm39)	I158N	possibly damaging	Het
Or52l1	A	T	7: 104,830,221 (GRCm39)	C115S	probably damaging	Het
Or5p66	C	A	7: 107,885,566 (GRCm39)	G256*	probably null	Het
Or5p70	A	G	7: 107,995,041 (GRCm39)	Y238C	probably benign	Het
Panx2	A	T	15: 88,953,941 (GRCm39)	Y632F	possibly damaging	Het
Pdia4	T	C	6: 47,773,589 (GRCm39)	T587A	probably benign	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pigk	T	A	3: 152,450,131 (GRCm39)	Y212N	probably damaging	Het
Pramel22	T	A	4: 143,380,838 (GRCm39)	Y395F	probably damaging	Het
Prl3b1	C	T	13: 27,429,775 (GRCm39)	T71I	possibly damaging	Het
Rab3gap1	A	G	1: 127,870,166 (GRCm39)	E929G	possibly damaging	Het
Rabl3	T	C	16: 37,384,079 (GRCm39)	I162T	probably benign	Het
Rasgrf2	T	A	13: 92,172,473 (GRCm39)	T188S	probably damaging	Het
Slc12a2	A	G	18: 58,043,358 (GRCm39)	I601V	possibly damaging	Het
Slc25a42	A	T	8: 70,644,519 (GRCm39)	I60N	probably benign	Het
Slc2a3	C	T	6: 122,713,694 (GRCm39)	G173S	probably damaging	Het
Slc46a3	G	A	5: 147,823,404 (GRCm39)	T146M	probably damaging	Het
Specc1	C	A	11: 61,920,120 (GRCm39)	P7T	possibly damaging	Het
Sptbn4	T	C	7: 27,123,235 (GRCm39)	D229G	probably benign	Het
Sspo	T	C	6: 48,427,984 (GRCm39)	I154T	probably benign	Het
Stx5a	T	C	19: 8,726,254 (GRCm39)		probably null	Het
Stxbp6	A	T	12: 44,902,640 (GRCm39)	C210*	probably null	Het
Tagap1	C	T	17: 7,224,285 (GRCm39)	R137Q	probably benign	Het
Tbc1d9	A	G	8: 83,997,932 (GRCm39)	Y1163C	probably damaging	Het
Tex14	T	G	11: 87,440,296 (GRCm39)	L1367R	probably damaging	Het
Tnnt3	C	T	7: 142,065,262 (GRCm39)	R131C	possibly damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,424,188 (GRCm39)	S1485L	probably benign	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Unc80	T	C	1: 66,731,708 (GRCm39)	L3053P	probably damaging	Het
Wars1	G	T	12: 108,854,359 (GRCm39)	N18K	possibly damaging	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Xndc1	T	A	7: 101,722,398 (GRCm39)	V21E	probably damaging	Het
Zfp493	T	A	13: 67,934,388 (GRCm39)	C114S	probably 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
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
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'- AAAGGCTGTGCTAGGAGCTG -3'
(R):5'- GCCAACCTCCTTTTGATAACAC -3'

Sequencing Primer
(F):5'- GTCGAGACCACTCTAAATGCTGTTG -3'
(R):5'- CACTCTGTCTATCACTAGAATAGGC -3'

Posted On

2014-08-25