Mutagenetix > Incidental Mutation

Incidental Mutation 'R8677:Ivl'

661433

Institutional Source

Beutler Lab

Gene Symbol

Ivl

Ensembl Gene

ENSMUSG00000049128

Gene Name

involucrin

Synonyms

1110019C06Rik

MMRRC Submission

068532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92478209-92481042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92479986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 26 (D26E)

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
AA Change: D26E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000059780
Gene: ENSMUSG00000049128
AA Change: D26E

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: 99.8%
20x: 99.4%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	C	8: 106,427,576 (GRCm39)	S25R	probably damaging	Het
Acly	A	T	11: 100,410,569 (GRCm39)	H136Q	probably damaging	Het
Adrm1	C	T	2: 179,813,832 (GRCm39)	T2M	probably benign	Het
Ankrd12	A	T	17: 66,331,209 (GRCm39)	L246M	probably damaging	Het
Bltp2	C	T	11: 78,174,982 (GRCm39)	R1706C	probably damaging	Het
Cacnb3	T	C	15: 98,539,931 (GRCm39)	L258P	probably damaging	Het
Cd36	C	T	5: 18,025,493 (GRCm39)	V76M	probably damaging	Het
Cep120	A	G	18: 53,871,633 (GRCm39)	F80L	possibly damaging	Het
Clcn1	A	T	6: 42,267,519 (GRCm39)		probably null	Het
Col17a1	T	C	19: 47,640,240 (GRCm39)	T1042A	probably benign	Het
Comp	A	T	8: 70,832,910 (GRCm39)	N623Y	probably damaging	Het
Ctnnal1	A	G	4: 56,813,272 (GRCm39)	L653P	probably benign	Het
Cx3cl1	G	T	8: 95,506,443 (GRCm39)	R149S	probably benign	Het
Dbndd2	T	A	2: 164,330,522 (GRCm39)	N58K	probably damaging	Het
Dclk1	A	G	3: 55,409,840 (GRCm39)	I595V	probably damaging	Het
Dhx15	T	C	5: 52,341,886 (GRCm39)	D144G	probably benign	Het
Dlat	T	C	9: 50,570,007 (GRCm39)	E120G	probably damaging	Het
Fam171a1	T	A	2: 3,221,352 (GRCm39)	Y273N	probably damaging	Het
Fndc3b	A	T	3: 27,511,176 (GRCm39)	V778D	probably benign	Het
Grn	T	C	11: 102,324,393 (GRCm39)	S129P	possibly damaging	Het
Grxcr1	T	C	5: 68,267,757 (GRCm39)	F169L	possibly damaging	Het
Hcn2	A	G	10: 79,560,619 (GRCm39)	I317V	probably benign	Het
Heca	T	C	10: 17,791,424 (GRCm39)	N211D	probably benign	Het
Htr1f	T	C	16: 64,746,414 (GRCm39)	T293A	possibly damaging	Het
Ifitm10	T	A	7: 141,909,749 (GRCm39)	I116F	probably benign	Het
Itprid1	A	G	6: 55,849,579 (GRCm39)	H37R	probably benign	Het
Kcnma1	T	A	14: 23,436,418 (GRCm39)	E761V	probably benign	Het
Ltbp1	G	T	17: 75,655,753 (GRCm39)	V923F	probably benign	Het
Mfsd4b2	A	T	10: 39,799,805 (GRCm39)	F32L	probably benign	Het
Micu2	T	C	14: 58,161,420 (GRCm39)	R301G	possibly damaging	Het
Miip	C	T	4: 147,947,503 (GRCm39)	C219Y	probably damaging	Het
Mn1	T	A	5: 111,566,885 (GRCm39)	L285*	probably null	Het
Mthfd1l	T	A	10: 3,998,250 (GRCm39)	N664K	possibly damaging	Het
Mttp	A	T	3: 137,810,437 (GRCm39)	H659Q	probably benign	Het
Myadml2	G	A	11: 120,538,815 (GRCm39)	P7S	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nlrp4c	C	T	7: 6,075,644 (GRCm39)	T645I	probably damaging	Het
Notch1	C	T	2: 26,359,936 (GRCm39)	V1260I	probably damaging	Het
Numa1	T	C	7: 101,650,148 (GRCm39)	L1293P	probably damaging	Het
Or1a1	A	T	11: 74,086,415 (GRCm39)	I29F	probably benign	Het
Or56a4	A	G	7: 104,806,775 (GRCm39)	L38P	probably benign	Het
Pcdh12	G	T	18: 38,415,191 (GRCm39)	H645N	probably benign	Het
Pdcd1	A	T	1: 93,968,952 (GRCm39)	L122H	probably damaging	Het
Pknox2	G	A	9: 36,821,887 (GRCm39)	P246L	probably damaging	Het
Polr2a	A	T	11: 69,626,381 (GRCm39)	S1590T	possibly damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Proser1	A	G	3: 53,385,122 (GRCm39)	T335A	probably benign	Het
Ptprc	A	G	1: 138,011,335 (GRCm39)	I598T	probably damaging	Het
Rasal3	T	C	17: 32,615,828 (GRCm39)	T337A	probably benign	Het
Rasgrp3	A	T	17: 75,819,055 (GRCm39)	T415S	probably benign	Het
Rbm7	T	A	9: 48,401,273 (GRCm39)	R152*	probably null	Het
Sanbr	T	C	11: 23,545,471 (GRCm39)	D474G	probably benign	Het
Sf3b2	C	T	19: 5,336,257 (GRCm39)	R513H	probably damaging	Het
Slc22a30	A	G	19: 8,364,035 (GRCm39)	S214P	probably benign	Het
Spam1	A	G	6: 24,796,984 (GRCm39)	T312A	probably benign	Het
Ssh2	A	G	11: 77,346,019 (GRCm39)	T1335A	possibly damaging	Het
Tef	T	A	15: 81,699,169 (GRCm39)	L59Q	probably damaging	Het
Tmem131l	A	C	3: 83,836,009 (GRCm39)	V700G	probably damaging	Het
Twsg1	A	G	17: 66,233,402 (GRCm39)	S183P	probably damaging	Het
Unc13c	T	C	9: 73,840,243 (GRCm39)	T203A	probably benign	Het
Uqcc6	G	T	10: 82,456,050 (GRCm39)	T37K	possibly damaging	Het
Vmn2r75	G	T	7: 85,814,410 (GRCm39)	P361Q	possibly damaging	Het
Xirp2	A	T	2: 67,346,978 (GRCm39)	N3073I	probably damaging	Het
Zfp114	A	G	7: 23,880,070 (GRCm39)	N140D	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
R8688:Ivl	UTSW	3	92,479,608 (GRCm39)	small deletion	probably benign
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'- CCAGATGCAGTTCCTGTTCC -3'
(R):5'- GGGAGAATGCCCTATTCAGTAG -3'

Sequencing Primer
(F):5'- TTCACCTGCAGCTGCTG -3'
(R):5'- GCCCTATTCAGTAGTAAGGATGTC -3'

Posted On

2021-03-08