Mutagenetix > Incidental Mutation

Incidental Mutation 'R7744:Isx'

596739

Institutional Source

Beutler Lab

Gene Symbol

Isx

Ensembl Gene

ENSMUSG00000031621

Gene Name

intestine specific homeobox

Synonyms

9130012O13Rik

MMRRC Submission

045800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75599801-75620134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75600285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 6 (I6N)

Ref Sequence

ENSEMBL: ENSMUSP00000134368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034034] [ENSMUST00000174427]

AlphaFold

A1A546

Predicted Effect

probably benign
Transcript: ENSMUST00000034034
AA Change: I6N

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034034
Gene: ENSMUSG00000031621
AA Change: I6N

Domain	Start	End	E-Value	Type
HOX	78	140	1.34e-27	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174427
AA Change: I6N

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134368
Gene: ENSMUSG00000031621
AA Change: I6N

Domain	Start	End	E-Value	Type
HOX	78	140	1.34e-27	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile up to 1 year of age and display no histological abnormalities of the gut. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,240,421 (GRCm39)	N761K	possibly damaging	Het
Abi2	A	G	1: 60,476,362 (GRCm39)	I145V	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Atf7ip2	T	A	16: 10,059,522 (GRCm39)	V354E	possibly damaging	Het
Bglap	T	C	3: 88,290,958 (GRCm39)	Y91C	probably damaging	Het
Cacna1e	A	T	1: 154,341,538 (GRCm39)	S1219T	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cd177	A	G	7: 24,449,800 (GRCm39)	C562R	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Dyrk3	A	G	1: 131,057,543 (GRCm39)	V210A	probably damaging	Het
Eif3c	C	A	7: 126,158,066 (GRCm39)	G297W	probably damaging	Het
Eml1	A	G	12: 108,482,863 (GRCm39)	H494R	probably benign	Het
Enpp2	A	T	15: 54,764,629 (GRCm39)		probably null	Het
Fbxw21	C	A	9: 108,986,720 (GRCm39)	C53F	possibly damaging	Het
Fndc3a	C	A	14: 72,799,156 (GRCm39)	G609V	possibly damaging	Het
Grid1	A	G	14: 35,172,036 (GRCm39)	D514G	probably damaging	Het
Gxylt2	T	C	6: 100,760,278 (GRCm39)	V271A	probably damaging	Het
Hes1	A	G	16: 29,884,997 (GRCm39)	K74R	probably damaging	Het
Igsf9	A	G	1: 172,319,752 (GRCm39)	N349S	probably benign	Het
Kcnb1	A	T	2: 167,030,251 (GRCm39)	F98Y	probably damaging	Het
Kif1b	G	C	4: 149,321,532 (GRCm39)	T1129R	possibly damaging	Het
Klra10	T	A	6: 130,249,724 (GRCm39)		probably null	Het
Mcm10	A	T	2: 4,996,253 (GRCm39)	L870Q	probably damaging	Het
Mettl16	T	A	11: 74,693,829 (GRCm39)	I280K	probably benign	Het
Mre11a	G	A	9: 14,721,128 (GRCm39)	R349Q	possibly damaging	Het
Mrpl10	C	T	11: 96,935,402 (GRCm39)	T34I	probably damaging	Het
Muc16	T	A	9: 18,496,392 (GRCm39)		probably null	Het
Myt1l	T	C	12: 29,877,548 (GRCm39)	C400R	unknown	Het
Nbr1	C	T	11: 101,460,210 (GRCm39)	T402M	probably damaging	Het
Ndufs1	A	G	1: 63,200,099 (GRCm39)	M271T	possibly damaging	Het
Or10q1	A	G	19: 13,727,419 (GRCm39)	*316W	probably null	Het
Or4c29	C	T	2: 88,740,003 (GRCm39)	V245I	possibly damaging	Het
Or51f23c-ps1	G	T	7: 102,431,597 (GRCm39)	V305L	probably benign	Het
Pakap	T	C	4: 57,709,519 (GRCm39)	S155P	probably damaging	Het
Pced1a	C	T	2: 130,263,972 (GRCm39)	D227N	probably damaging	Het
Phf21b	A	G	15: 84,689,070 (GRCm39)	I152T	probably damaging	Het
Pla2g4a	A	G	1: 149,736,853 (GRCm39)	V430A	probably benign	Het
Plbd1	T	C	6: 136,594,244 (GRCm39)	E335G	probably benign	Het
Plce1	G	A	19: 38,608,899 (GRCm39)	V403M	possibly damaging	Het
Pnpla6	T	A	8: 3,581,677 (GRCm39)	N642K	probably benign	Het
Ptprb	T	C	10: 116,113,389 (GRCm39)	I123T	probably benign	Het
Rab3il1	T	A	19: 10,005,641 (GRCm39)		probably null	Het
Ranbp3	C	T	17: 57,015,219 (GRCm39)	T307M	possibly damaging	Het
Rasgrp2	T	C	19: 6,455,031 (GRCm39)	S254P	probably damaging	Het
Rgl3	T	C	9: 21,898,866 (GRCm39)	K191R	probably benign	Het
Rnf223	G	A	4: 156,216,982 (GRCm39)	R119H	probably benign	Het
Sapcd2	C	T	2: 25,263,508 (GRCm39)	P217S	unknown	Het
Setd7	C	T	3: 51,434,261 (GRCm39)		probably null	Het
Sh3bp1	A	C	15: 78,794,209 (GRCm39)	T526P	possibly damaging	Het
Slc17a4	C	A	13: 24,085,767 (GRCm39)	W382L	probably benign	Het
Slc26a3	A	T	12: 31,513,464 (GRCm39)		probably null	Het
Tmem129	A	G	5: 33,811,732 (GRCm39)	L356P	probably damaging	Het
Trib1	T	A	15: 59,526,512 (GRCm39)	Y361N	probably benign	Het
Xirp1	T	A	9: 119,845,912 (GRCm39)	R990S	possibly damaging	Het
Zfp950	A	C	19: 61,116,010 (GRCm39)		probably null	Het

Other mutations in Isx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Isx	APN	8	75,619,306 (GRCm39)	missense	probably benign	0.02
IGL02220:Isx	APN	8	75,619,333 (GRCm39)	missense	possibly damaging	0.86
R0219:Isx	UTSW	8	75,616,589 (GRCm39)	splice site	probably null
R0559:Isx	UTSW	8	75,600,369 (GRCm39)	missense	probably benign	0.08
R0627:Isx	UTSW	8	75,619,328 (GRCm39)	missense	possibly damaging	0.88
R4326:Isx	UTSW	8	75,600,284 (GRCm39)	missense	probably benign	0.01
R4510:Isx	UTSW	8	75,600,298 (GRCm39)	missense	probably benign	0.00
R4511:Isx	UTSW	8	75,600,298 (GRCm39)	missense	probably benign	0.00
R4720:Isx	UTSW	8	75,600,487 (GRCm39)	critical splice donor site	probably null
R5023:Isx	UTSW	8	75,619,342 (GRCm39)	missense	probably benign	0.35
R5259:Isx	UTSW	8	75,619,473 (GRCm39)	missense	probably benign	0.01
R5575:Isx	UTSW	8	75,619,429 (GRCm39)	missense	probably benign	0.00
R5909:Isx	UTSW	8	75,619,426 (GRCm39)	missense	probably benign	0.39
R7459:Isx	UTSW	8	75,619,392 (GRCm39)	missense	probably benign
R8152:Isx	UTSW	8	75,616,627 (GRCm39)	missense	probably damaging	1.00
R8340:Isx	UTSW	8	75,616,688 (GRCm39)	missense	probably damaging	1.00
R9279:Isx	UTSW	8	75,600,434 (GRCm39)	missense	probably benign	0.03
R9288:Isx	UTSW	8	75,619,439 (GRCm39)	missense	probably benign	0.40
R9638:Isx	UTSW	8	75,619,566 (GRCm39)	missense	probably damaging	0.97
RF022:Isx	UTSW	8	75,600,474 (GRCm39)	missense	probably damaging	0.99
Z1177:Isx	UTSW	8	75,618,487 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GTGTTCAAGGTCCATGGAAGTC -3'
(R):5'- ACTTACCTTGGGGCTGATCC -3'

Sequencing Primer
(F):5'- AAGTCCCTGTGTCCAAGGAATTG -3'
(R):5'- ATCCTGTGGGGGCCTCTC -3'

Posted On

2019-11-26