Mutagenetix > Incidental Mutation

Incidental Mutation 'R8688:Ivl'

668231

Institutional Source

Beutler Lab

Gene Symbol

Ivl

Ensembl Gene

ENSMUSG00000049128

Gene Name

involucrin

Synonyms

1110019C06Rik

MMRRC Submission

068543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8688 (G1)

Quality Score

111.467

Status

Validated

Chromosome

Chromosomal Location

92478209-92481042 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG to TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG at 92479608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000059780 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053107

SMART Domains

Protein: ENSMUSP00000059780
Gene: ENSMUSG00000049128

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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
1700018F24Rik	C	T	5: 144,982,183 (GRCm39)	T256I	probably damaging	Het
2700097O09Rik	C	T	12: 55,104,136 (GRCm39)	G161D	probably damaging	Het
Acvr1	G	A	2: 58,352,961 (GRCm39)	A333V	probably damaging	Het
Adamtsl1	A	C	4: 86,166,263 (GRCm39)	S209R		Het
Akr1c18	T	C	13: 4,187,194 (GRCm39)	K207E	possibly damaging	Het
Anapc1	T	G	2: 128,527,748 (GRCm39)	Q70P	probably benign	Het
Arhgef33	A	G	17: 80,680,615 (GRCm39)	E585G	probably damaging	Het
Baz1b	T	G	5: 135,271,343 (GRCm39)	S1309A	probably benign	Het
Bdp1	T	C	13: 100,240,307 (GRCm39)	R14G	probably damaging	Het
Bltp1	T	A	3: 37,090,066 (GRCm39)	Y745N		Het
Ccdc150	A	C	1: 54,407,132 (GRCm39)	Q1058H	probably damaging	Het
Cdk5rap2	A	G	4: 70,298,510 (GRCm39)	F74S	probably damaging	Het
CK137956	C	T	4: 127,844,739 (GRCm39)	E335K	possibly damaging	Het
Cyp2c66	A	T	19: 39,151,884 (GRCm39)	I200F	probably benign	Het
Dmbt1	T	A	7: 130,659,984 (GRCm39)	W412R	unknown	Het
Dsel	A	T	1: 111,790,468 (GRCm39)	C22*	probably null	Het
Ep400	A	G	5: 110,868,685 (GRCm39)	M949T	unknown	Het
Gcc1	A	T	6: 28,418,739 (GRCm39)	Y531*	probably null	Het
Gm10277	T	C	11: 77,676,405 (GRCm39)	R189G	unknown	Het
Gm17078	T	A	14: 51,848,687 (GRCm39)	R17*	probably null	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Grip1	A	G	10: 119,835,809 (GRCm39)	I502V	probably benign	Het
H2-M9	A	T	17: 36,953,034 (GRCm39)	V91D	probably damaging	Het
Hcls1	T	C	16: 36,781,821 (GRCm39)	L310P	probably benign	Het
Hsd17b11	T	A	5: 104,169,584 (GRCm39)	I8F	probably benign	Het
Iftap	T	C	2: 101,440,916 (GRCm39)	E29G	probably damaging	Het
Ildr2	A	T	1: 166,097,102 (GRCm39)	D107V	probably damaging	Het
Josd2	T	C	7: 44,120,640 (GRCm39)	W126R	probably damaging	Het
Ltbp2	T	A	12: 84,850,578 (GRCm39)	D912V	probably benign	Het
Mdc1	A	G	17: 36,161,383 (GRCm39)	I765M	probably benign	Het
Mroh1	A	G	15: 76,312,550 (GRCm39)	E579G	probably benign	Het
Nmur2	T	C	11: 55,931,654 (GRCm39)	N19S	probably damaging	Het
Obscn	T	C	11: 58,946,909 (GRCm39)	Y4075C	probably damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or4k40	C	T	2: 111,250,958 (GRCm39)	V113I	probably benign	Het
Or8b51	T	A	9: 38,569,047 (GRCm39)	I214L	probably benign	Het
Orm1	G	A	4: 63,264,578 (GRCm39)	V167M	probably damaging	Het
Phf14	A	G	6: 11,990,034 (GRCm39)	N688D	probably damaging	Het
Phlpp2	A	G	8: 110,631,012 (GRCm39)	K219E	probably damaging	Het
Prdm2	T	C	4: 142,838,310 (GRCm39)	T1683A	probably benign	Het
Ptprh	T	A	7: 4,554,022 (GRCm39)	Q815L	probably benign	Het
Rag1	A	T	2: 101,472,968 (GRCm39)	Y725N	probably damaging	Het
Rp1	T	A	1: 4,416,628 (GRCm39)	I1495F	probably benign	Het
Scn3a	A	G	2: 65,356,047 (GRCm39)	V229A	possibly damaging	Het
Siglech	A	G	7: 55,418,362 (GRCm39)	D110G	probably benign	Het
St8sia2	A	T	7: 73,593,092 (GRCm39)	D321E	probably damaging	Het
Stxbp3	A	G	3: 108,709,425 (GRCm39)		probably benign	Het
Tbccd1	A	T	16: 22,641,208 (GRCm39)	S390T	possibly damaging	Het
Tg	T	A	15: 66,566,802 (GRCm39)		probably benign	Het
Trio	T	A	15: 27,748,324 (GRCm39)	N2443Y	possibly damaging	Het
Ube2s	C	T	7: 4,813,577 (GRCm39)	M62I	probably benign	Het
Ugt2b37	T	C	5: 87,390,240 (GRCm39)	D402G	possibly damaging	Het
Vmn2r80	A	G	10: 79,004,069 (GRCm39)	N94S	probably damaging	Het
Wapl	T	A	14: 34,414,549 (GRCm39)	S470R	possibly damaging	Het
Xrra1	A	G	7: 99,555,752 (GRCm39)	E373G	probably damaging	Het
Zfp335	A	G	2: 164,734,113 (GRCm39)	Y1329H	probably damaging	Het
Zfp689	C	A	7: 127,044,084 (GRCm39)	C182F	probably benign	Het
Zfp933	T	A	4: 147,911,249 (GRCm39)	S116C	probably benign	Het

Other mutations in Ivl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Ivl	APN	3	92,479,819 (GRCm39)	missense	possibly damaging	0.68
IGL01656:Ivl	APN	3	92,478,962 (GRCm39)	nonsense	probably null
IGL01820:Ivl	APN	3	92,478,940 (GRCm39)	missense	possibly damaging	0.95
IGL03012:Ivl	APN	3	92,479,733 (GRCm39)	missense	probably benign	0.01
PIT4142001:Ivl	UTSW	3	92,479,608 (GRCm39)	small deletion	probably benign
PIT4151001:Ivl	UTSW	3	92,479,608 (GRCm39)	small deletion	probably benign
PIT4458001:Ivl	UTSW	3	92,479,608 (GRCm39)	small insertion	probably benign
R0256:Ivl	UTSW	3	92,479,150 (GRCm39)	missense	probably damaging	1.00
R0276:Ivl	UTSW	3	92,478,821 (GRCm39)	missense	unknown
R1800:Ivl	UTSW	3	92,479,891 (GRCm39)	missense	unknown
R1940:Ivl	UTSW	3	92,480,056 (GRCm39)	missense	probably benign	0.00
R1950:Ivl	UTSW	3	92,479,420 (GRCm39)	missense	possibly damaging	0.85
R2887:Ivl	UTSW	3	92,478,699 (GRCm39)	missense	unknown
R4457:Ivl	UTSW	3	92,479,673 (GRCm39)	missense	probably benign	0.03
R4561:Ivl	UTSW	3	92,479,262 (GRCm39)	small insertion	probably benign
R4562:Ivl	UTSW	3	92,479,262 (GRCm39)	small insertion	probably benign
R4698:Ivl	UTSW	3	92,478,698 (GRCm39)	missense	unknown
R4708:Ivl	UTSW	3	92,479,057 (GRCm39)	missense	probably damaging	1.00
R4885:Ivl	UTSW	3	92,479,718 (GRCm39)	missense	probably benign	0.03
R6354:Ivl	UTSW	3	92,479,217 (GRCm39)	small deletion	probably benign
R6355:Ivl	UTSW	3	92,479,217 (GRCm39)	small deletion	probably benign
R6356:Ivl	UTSW	3	92,479,217 (GRCm39)	small deletion	probably benign
R6582:Ivl	UTSW	3	92,479,217 (GRCm39)	small deletion	probably benign
R6723:Ivl	UTSW	3	92,478,694 (GRCm39)	missense	unknown
R7091:Ivl	UTSW	3	92,479,549 (GRCm39)	missense	possibly damaging	0.85
R7146:Ivl	UTSW	3	92,479,538 (GRCm39)	missense	probably damaging	0.97
R7755:Ivl	UTSW	3	92,479,317 (GRCm39)	missense	probably damaging	0.98
R7841:Ivl	UTSW	3	92,479,699 (GRCm39)	missense	possibly damaging	0.52
R8048:Ivl	UTSW	3	92,479,231 (GRCm39)	missense	probably damaging	1.00
R8171:Ivl	UTSW	3	92,479,085 (GRCm39)	missense	probably damaging	1.00
R8363:Ivl	UTSW	3	92,479,525 (GRCm39)	missense	possibly damaging	0.71
R8434:Ivl	UTSW	3	92,479,943 (GRCm39)	missense	probably benign	0.01
R8504:Ivl	UTSW	3	92,480,078 (GRCm39)	start gained	probably benign
R8677:Ivl	UTSW	3	92,479,986 (GRCm39)	missense	probably benign	0.00
R8691:Ivl	UTSW	3	92,478,823 (GRCm39)	missense	unknown
RF013:Ivl	UTSW	3	92,479,650 (GRCm39)	small deletion	probably benign
RF031:Ivl	UTSW	3	92,479,625 (GRCm39)	frame shift	probably null
RF036:Ivl	UTSW	3	92,479,648 (GRCm39)	frame shift	probably null
RF038:Ivl	UTSW	3	92,479,607 (GRCm39)	small deletion	probably benign
RF055:Ivl	UTSW	3	92,479,607 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GAATCAGTTTCTGCTCCTCTGG -3'
(R):5'- AAAGTGTGAGCACCAGCAGC -3'

Sequencing Primer
(F):5'- GAGTTTTCTGCTGCTGACCCAG -3'
(R):5'- CAGCTGCAGGTGAAAAAGTC -3'

Posted On

2021-04-30