Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Ivl'

550198

Institutional Source

Beutler Lab

Gene Symbol

Ivl

Ensembl Gene

ENSMUSG00000049128

Gene Name

involucrin

Synonyms

1110019C06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92570902-92573735 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92572242 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 172 (D172G)

Ref Sequence

ENSEMBL: ENSMUSP00000059780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053107]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053107
AA Change: D172G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059780
Gene: ENSMUSG00000049128
AA Change: D172G

Domain	Start	End	E-Value	Type
Pfam:Involucrin_N	1	67	2e-32	PFAM
Pfam:Involucrin2	94	134	1.3e-7	PFAM
Pfam:Involucrin2	173	211	1.9e-13	PFAM
Pfam:Involucrin2	210	249	4.1e-12	PFAM
Pfam:Involucrin2	239	278	2.9e-13	PFAM
Pfam:Involucrin2	268	306	4.1e-10	PFAM
Pfam:Involucrin2	311	351	4.6e-14	PFAM
Pfam:Involucrin2	343	376	1.3e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362	A523S	possibly damaging	Het
Abhd18	A	C	3: 40,916,738	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,940,806	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	probably damaging	Het

Other mutations in Ivl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Ivl	APN	3	92572512	missense	possibly damaging	0.68
IGL01656:Ivl	APN	3	92571655	nonsense	probably null
IGL01820:Ivl	APN	3	92571633	missense	possibly damaging	0.95
IGL03012:Ivl	APN	3	92572426	missense	probably benign	0.01
PIT4142001:Ivl	UTSW	3	92572301	small deletion	probably benign
PIT4151001:Ivl	UTSW	3	92572301	small deletion	probably benign
PIT4458001:Ivl	UTSW	3	92572301	small insertion	probably benign
R0256:Ivl	UTSW	3	92571843	missense	probably damaging	1.00
R0276:Ivl	UTSW	3	92571514	missense	unknown
R1800:Ivl	UTSW	3	92572584	missense	unknown
R1940:Ivl	UTSW	3	92572749	missense	probably benign	0.00
R1950:Ivl	UTSW	3	92572113	missense	possibly damaging	0.85
R2887:Ivl	UTSW	3	92571392	missense	unknown
R4457:Ivl	UTSW	3	92572366	missense	probably benign	0.03
R4561:Ivl	UTSW	3	92571955	small insertion	probably benign
R4562:Ivl	UTSW	3	92571955	small insertion	probably benign
R4698:Ivl	UTSW	3	92571391	missense	unknown
R4708:Ivl	UTSW	3	92571750	missense	probably damaging	1.00
R4885:Ivl	UTSW	3	92572411	missense	probably benign	0.03
R6354:Ivl	UTSW	3	92571910	small deletion	probably benign
R6355:Ivl	UTSW	3	92571910	small deletion	probably benign
R6356:Ivl	UTSW	3	92571910	small deletion	probably benign
R6582:Ivl	UTSW	3	92571910	small deletion	probably benign
R6723:Ivl	UTSW	3	92571387	missense	unknown
R7146:Ivl	UTSW	3	92572231	missense	probably damaging	0.97
R7755:Ivl	UTSW	3	92572010	missense	probably damaging	0.98
R7841:Ivl	UTSW	3	92572392	missense	possibly damaging	0.52
R8048:Ivl	UTSW	3	92571924	missense	probably damaging	1.00
R8171:Ivl	UTSW	3	92571778	missense	probably damaging	1.00
R8363:Ivl	UTSW	3	92572218	missense	possibly damaging	0.71
R8434:Ivl	UTSW	3	92572636	missense	probably benign	0.01
R8504:Ivl	UTSW	3	92572771	start gained	probably benign
R8677:Ivl	UTSW	3	92572679	missense	probably benign	0.00
R8688:Ivl	UTSW	3	92572301	small deletion	probably benign
R8691:Ivl	UTSW	3	92571516	missense	unknown
RF013:Ivl	UTSW	3	92572343	small deletion	probably benign
RF031:Ivl	UTSW	3	92572318	frame shift	probably null
RF036:Ivl	UTSW	3	92572341	frame shift	probably null
RF038:Ivl	UTSW	3	92572300	small deletion	probably benign
RF055:Ivl	UTSW	3	92572300	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGTTGCAGTTCTGGTTCATG -3'
(R):5'- CTGTGCCTGGAACAACAAC -3'

Sequencing Primer
(F):5'- TGTCCCAGGTGTAGCTCC -3'
(R):5'- GTGCCTGGAACAACAACAGCAG -3'

Posted On

2019-05-15