Mutagenetix > Incidental Mutation

Incidental Mutation 'R8691:Ivl'

668355

Institutional Source

Beutler Lab

Gene Symbol

Ivl

Ensembl Gene

ENSMUSG00000049128

Gene Name

involucrin

Synonyms

1110019C06Rik

MMRRC Submission

068545-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8691 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92478209-92481042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92478823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 414 (S414L)

Ref Sequence

ENSEMBL: ENSMUSP00000059780 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000053107
AA Change: S414L

SMART Domains

Protein: ENSMUSP00000059780
Gene: ENSMUSG00000049128
AA Change: S414L

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	T	5: 30,310,287 (GRCm39)	A24E	unknown	Het
Acap1	A	G	11: 69,781,003 (GRCm39)	L117P	probably damaging	Het
Actl6b	G	A	5: 137,565,585 (GRCm39)	G394S	probably damaging	Het
Actr3b	G	T	5: 26,030,202 (GRCm39)	V177F	possibly damaging	Het
Adamts6	A	G	13: 104,450,839 (GRCm39)	T341A	probably benign	Het
Agbl4	G	T	4: 111,520,156 (GRCm39)	V474F	probably benign	Het
Atosa	A	T	9: 74,917,335 (GRCm39)	T652S	probably benign	Het
Bach1	T	C	16: 87,516,517 (GRCm39)	S353P	probably benign	Het
C1qtnf9	G	A	14: 61,017,141 (GRCm39)	D224N	probably damaging	Het
Camkmt	A	T	17: 85,421,260 (GRCm39)	N121Y	probably damaging	Het
Card6	A	T	15: 5,129,078 (GRCm39)	Y773N	possibly damaging	Het
Cbfa2t2	C	A	2: 154,342,403 (GRCm39)	P40T	possibly damaging	Het
Colec10	A	C	15: 54,298,420 (GRCm39)	E60D	probably benign	Het
Cspg4	T	C	9: 56,800,280 (GRCm39)	V1647A	probably benign	Het
Cyp2d34	A	G	15: 82,502,471 (GRCm39)	F222L	probably benign	Het
Dennd1b	A	T	1: 138,969,774 (GRCm39)	I97F	possibly damaging	Het
Deptor	A	C	15: 55,083,596 (GRCm39)	D388A	possibly damaging	Het
Dhx40	T	C	11: 86,690,419 (GRCm39)	K201E	possibly damaging	Het
Dnah6	G	A	6: 73,145,850 (GRCm39)	R854C	probably damaging	Het
Dock9	T	C	14: 121,877,517 (GRCm39)	I409V	possibly damaging	Het
Eif1ad16	T	G	12: 87,985,278 (GRCm39)	K88N	probably damaging	Het
Esp31	G	T	17: 38,955,592 (GRCm39)	L78F	possibly damaging	Het
Fam98c	A	T	7: 28,852,889 (GRCm39)	V48E	probably damaging	Het
Fcgbpl1	A	T	7: 27,853,264 (GRCm39)	E1517V	possibly damaging	Het
Fgfr1	A	T	8: 26,052,253 (GRCm39)	D193V	possibly damaging	Het
Furin	C	T	7: 80,041,775 (GRCm39)		probably benign	Het
Gm17078	A	T	14: 51,848,693 (GRCm39)	F15I	probably damaging	Het
Grid2	G	T	6: 63,480,321 (GRCm39)	R45L	probably damaging	Het
Hecw2	A	G	1: 53,904,223 (GRCm39)	V1175A	probably benign	Het
Hspa1b	T	C	17: 35,176,072 (GRCm39)	I638V	possibly damaging	Het
Ighv6-7	A	G	12: 114,419,304 (GRCm39)	V100A	probably benign	Het
Itch	G	T	2: 155,052,478 (GRCm39)	E693*	probably null	Het
Kif5b	T	A	18: 6,225,787 (GRCm39)	N160I	probably benign	Het
Klhl5	A	G	5: 65,306,881 (GRCm39)		probably benign	Het
Lpin1	C	T	12: 16,623,660 (GRCm39)		probably benign	Het
Malsu1	C	A	6: 49,052,171 (GRCm39)	H130Q	probably benign	Het
Naip2	A	C	13: 100,297,676 (GRCm39)	L787V	probably damaging	Het
Nynrin	C	T	14: 56,110,106 (GRCm39)	R1738W	probably damaging	Het
Or11g27	A	G	14: 50,770,910 (GRCm39)	T14A	probably benign	Het
Or4e1	A	T	14: 52,701,358 (GRCm39)	I36N	possibly damaging	Het
Or51d1	C	T	7: 102,347,777 (GRCm39)	Q111*	probably null	Het
Or7e176	T	A	9: 20,171,747 (GRCm39)	S204T	probably benign	Het
Pclo	A	G	5: 14,571,706 (GRCm39)	T364A	unknown	Het
Phlda2	A	C	7: 143,056,206 (GRCm39)	S8A	probably benign	Het
Pou3f1	G	A	4: 124,551,549 (GRCm39)	G17E	unknown	Het
Ppfibp2	A	G	7: 107,346,785 (GRCm39)	D899G	probably damaging	Het
Pskh1	T	C	8: 106,639,833 (GRCm39)	V171A	probably damaging	Het
Rictor	A	G	15: 6,816,513 (GRCm39)	T1262A	probably damaging	Het
Rnf41	T	C	10: 128,274,077 (GRCm39)	V243A	probably benign	Het
Slc9c1	T	A	16: 45,427,182 (GRCm39)	N1162K	probably benign	Het
Spef2	A	T	15: 9,602,005 (GRCm39)	L1419*	probably null	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tnc	A	G	4: 63,880,313 (GRCm39)	C1954R	probably damaging	Het
Ttll11	T	A	2: 35,674,161 (GRCm39)	I622F	probably damaging	Het
Utp25	T	C	1: 192,796,110 (GRCm39)	E673G	probably benign	Het
Vmn2r104	A	G	17: 20,262,110 (GRCm39)	I340T	probably damaging	Het
Vmn2r110	G	T	17: 20,803,404 (GRCm39)	D390E	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
R8688:Ivl	UTSW	3	92,479,608 (GRCm39)	small deletion	probably benign
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'- GTAGTGAGCACGTCTCCTTTC -3'
(R):5'- CTGAACCAGAACTGCACCTG -3'

Sequencing Primer
(F):5'- CAGTGCTTGGTACTAATTGCTC -3'
(R):5'- TGCACCTGGGAAAGCAGC -3'

Posted On

2021-04-30