Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Ivl'

343080

Institutional Source

Beutler Lab

Gene Symbol

Ivl

Ensembl Gene

ENSMUSG00000049128

Gene Name

involucrin

Synonyms

1110019C06Rik

MMRRC Submission

041786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4561 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

92570902-92573735 bp(-) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CCTGCTGCTGCT to CCTGCTGCTGCTGCT at 92571955 bp (GRCm38)

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 70,002,018	S1601P	probably damaging	Het
Arnt	A	G	3: 95,452,613	N56D	probably damaging	Het
Atad5	A	G	11: 80,095,889	T601A	probably benign	Het
Calr4	A	G	4: 109,246,182	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,047,632	A93S	probably damaging	Het
Cep135	C	T	5: 76,638,193	H1048Y	possibly damaging	Het
Ctnna2	A	G	6: 77,636,713		probably null	Het
Ddx60	T	C	8: 61,942,461	L144P	probably damaging	Het
Dera	A	T	6: 137,780,738	T96S	possibly damaging	Het
Dock9	T	A	14: 121,559,007	M1853L	probably benign	Het
Erbb4	G	A	1: 68,343,921	R306*	probably null	Het
Glyat	G	T	19: 12,651,280	L146F	possibly damaging	Het
Grk4	C	A	5: 34,694,813	Q134K	probably benign	Het
Hkdc1	T	C	10: 62,409,839	Q181R	probably benign	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Ipo4	C	T	14: 55,630,089		probably benign	Het
Kcnd2	A	G	6: 21,216,396	Q33R	probably benign	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Klhl30	A	T	1: 91,361,031	H504L	probably damaging	Het
Map4	A	G	9: 110,052,371	Y101C	possibly damaging	Het
Mfn2	C	A	4: 147,877,035	R707L	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myof	T	C	19: 37,922,990	N1511D	probably benign	Het
Neb	A	T	2: 52,286,155	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 94,477,146	T625A	probably damaging	Het
Olfr996	G	T	2: 85,579,620	C127F	probably damaging	Het
Pax2	A	G	19: 44,835,963	Y374C	unknown	Het
Pde8a	T	A	7: 81,308,820	Y315*	probably null	Het
Pkhd1	A	T	1: 20,534,719	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,682	F189L	probably damaging	Het
Prex2	G	A	1: 11,184,545		probably null	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Slc22a22	T	A	15: 57,263,385	Q77L	probably damaging	Het
Slc24a2	A	T	4: 87,227,397	V140D	probably damaging	Het
Slc35g2	C	A	9: 100,553,234	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,671,167	T409A	probably benign	Het
Spag7	T	C	11: 70,664,990	I80M	probably damaging	Het
Srgap3	A	G	6: 112,781,054	M164T	probably damaging	Het
Sspo	A	T	6: 48,475,534		probably null	Het
Tcte2	T	C	17: 13,722,602		probably benign	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Tmtc4	T	C	14: 122,963,298	T194A	probably benign	Het
Ttc21b	T	C	2: 66,186,218	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,620,406	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,723,667	S608T	probably benign	Het
Zfp947	G	T	17: 22,146,143	Y183*	probably null	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
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
R7091:Ivl	UTSW	3	92572242	missense	possibly damaging	0.85
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'- GGTACTGCTGCTTTCTCAGG -3'
(R):5'- AGAACTGCATCTGGGTCAGC -3'

Sequencing Primer
(F):5'- CTCAGGTACAGTTCTGGCTTATGAAG -3'
(R):5'- TCTGGGTCAGCAGCAGAAAACTC -3'

Posted On

2015-09-24