Mutagenetix > Incidental Mutation

Incidental Mutation 'R7344:Irx5'

570093

Institutional Source

Beutler Lab

Gene Symbol

Irx5

Ensembl Gene

ENSMUSG00000031737

Gene Name

Iroquois homeobox 5

Synonyms

MMRRC Submission

045434-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7344 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93084424-93088084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93086183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 89 (T89A)

Ref Sequence

ENSEMBL: ENSMUSP00000034184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034184] [ENSMUST00000210246]

AlphaFold

Q9JKQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000034184
AA Change: T89A

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: T89A

Domain	Start	End	E-Value	Type
HOX	112	177	1.14e-12	SMART
low complexity region	185	202	N/A	INTRINSIC
low complexity region	245	257	N/A	INTRINSIC
low complexity region	307	327	N/A	INTRINSIC
IRO	328	345	2.28e-5	SMART
low complexity region	351	369	N/A	INTRINSIC
low complexity region	375	389	N/A	INTRINSIC
low complexity region	417	439	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210246
AA Change: T89A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (58/58)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body size, narrow eye opening, and impaired retinal cone bipolar cell development. [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
4930438A08Rik	A	C	11: 58,182,273 (GRCm39)	Y216S		Het
Anpep	G	T	7: 79,488,398 (GRCm39)	S477R	possibly damaging	Het
Atp7b	T	C	8: 22,487,515 (GRCm39)	D1293G	probably damaging	Het
Caprin2	A	G	6: 148,774,565 (GRCm39)	V249A	probably benign	Het
Cep41	C	T	6: 30,693,655 (GRCm39)	R5K	probably benign	Het
Cyp2c23	A	T	19: 44,010,176 (GRCm39)		probably null	Het
Dazap2	T	A	15: 100,514,824 (GRCm39)	V15E	possibly damaging	Het
Ecpas	A	T	4: 58,824,770 (GRCm39)	D1070E	probably benign	Het
Epha8	T	A	4: 136,661,849 (GRCm39)	H582L	probably benign	Het
Fam193a	A	G	5: 34,643,074 (GRCm39)	T1513A	possibly damaging	Het
Fancd2	T	C	6: 113,545,670 (GRCm39)	V901A	probably benign	Het
Fbl	T	A	7: 27,878,360 (GRCm39)	V284E	probably damaging	Het
Fbln2	A	G	6: 91,246,955 (GRCm39)	E1065G	probably damaging	Het
Fbxw16	A	G	9: 109,278,103 (GRCm39)	V25A	probably benign	Het
Fcgbpl1	C	T	7: 27,852,185 (GRCm39)	T1236I	possibly damaging	Het
Fcgbpl1	T	C	7: 27,839,704 (GRCm39)	S506P	possibly damaging	Het
Gm11562	T	G	11: 99,511,195 (GRCm39)	T2P	unknown	Het
Gm17728	G	T	17: 9,640,955 (GRCm39)	G22W	probably damaging	Het
Gm30083	A	G	14: 33,721,537 (GRCm39)	Y190H	probably benign	Het
Gm6793	T	A	8: 112,741,561 (GRCm39)	D27V	probably damaging	Het
Gm7324	A	G	14: 43,952,134 (GRCm39)	D259G	probably benign	Het
Gtf2a1l	G	A	17: 89,001,531 (GRCm39)	G129D	probably damaging	Het
Ildr2	T	A	1: 166,122,166 (GRCm39)	V203E	probably damaging	Het
Ipo4	C	T	14: 55,872,988 (GRCm39)	R23Q	probably benign	Het
Itga7	A	G	10: 128,776,798 (GRCm39)	N221S	possibly damaging	Het
Lpcat2	T	C	8: 93,602,195 (GRCm39)	W259R	probably damaging	Het
Lrrc8e	C	T	8: 4,284,815 (GRCm39)	R347C	probably damaging	Het
Lyst	T	A	13: 13,881,140 (GRCm39)	D2790E	probably benign	Het
Magi2	G	A	5: 20,755,238 (GRCm39)	R604Q	probably benign	Het
Mertk	C	A	2: 128,613,417 (GRCm39)	H478N	probably benign	Het
Mical3	T	A	6: 121,013,505 (GRCm39)	K293*	probably null	Het
Nod2	T	C	8: 89,387,210 (GRCm39)	L168P	probably damaging	Het
Npnt	T	C	3: 132,614,100 (GRCm39)		probably null	Het
Or1x6	T	G	11: 50,939,122 (GRCm39)	F63V	probably damaging	Het
Or5af1	A	T	11: 58,722,308 (GRCm39)	E109D	probably damaging	Het
Or8b37	T	C	9: 37,959,253 (GRCm39)	M245T	probably benign	Het
Or9g4	A	T	2: 85,505,275 (GRCm39)	Y73*	probably null	Het
Plcd4	A	T	1: 74,593,811 (GRCm39)	D312V	probably damaging	Het
Prss58	A	G	6: 40,872,399 (GRCm39)	I208T	probably damaging	Het
Pus7l	A	G	15: 94,438,498 (GRCm39)	S116P	probably benign	Het
Rcc1l	A	T	5: 134,205,276 (GRCm39)	I93N	probably benign	Het
Rftn2	A	C	1: 55,265,311 (GRCm39)	Y36*	probably null	Het
Rp1l1	G	A	14: 64,267,069 (GRCm39)	R885Q	probably benign	Het
Rpgrip1	A	T	14: 52,378,116 (GRCm39)	D488V	probably damaging	Het
Sacs	A	G	14: 61,444,893 (GRCm39)	Y2313C	possibly damaging	Het
Scrib	T	C	15: 75,921,107 (GRCm39)	Y1332C	probably damaging	Het
Serpinb10	T	C	1: 107,468,672 (GRCm39)	V105A	probably damaging	Het
Slc35d1	A	T	4: 103,070,243 (GRCm39)		probably null	Het
Slfn3	T	C	11: 83,103,648 (GRCm39)	V173A	probably benign	Het
Smpd3	C	T	8: 106,991,825 (GRCm39)	V243M	probably damaging	Het
Stard9	A	T	2: 120,535,167 (GRCm39)	D3808V	possibly damaging	Het
Supt16	A	T	14: 52,411,028 (GRCm39)	V692D	probably damaging	Het
Tapt1	A	T	5: 44,345,999 (GRCm39)	V317E	probably damaging	Het
Vmn2r101	T	C	17: 19,832,059 (GRCm39)	I685T	probably benign	Het
Vmn2r92	A	G	17: 18,387,513 (GRCm39)	I173V	probably benign	Het
Vps54	T	C	11: 21,224,999 (GRCm39)	I165T	probably damaging	Het
Zswim4	G	A	8: 84,950,327 (GRCm39)	R628*	probably null	Het
Zzz3	T	C	3: 152,157,736 (GRCm39)	S770P	probably damaging	Het

Other mutations in Irx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01735:Irx5	APN	8	93,087,331 (GRCm39)	missense	probably damaging	1.00
IGL01870:Irx5	APN	8	93,086,405 (GRCm39)	missense	probably damaging	1.00
IGL01985:Irx5	APN	8	93,086,155 (GRCm39)	splice site	probably benign
IGL02481:Irx5	APN	8	93,087,307 (GRCm39)	missense	probably damaging	1.00
IGL02597:Irx5	APN	8	93,087,400 (GRCm39)	missense	possibly damaging	0.93
IGL03257:Irx5	APN	8	93,087,258 (GRCm39)	missense	probably benign	0.00
R0784:Irx5	UTSW	8	93,087,118 (GRCm39)	missense	probably benign
R1498:Irx5	UTSW	8	93,086,514 (GRCm39)	missense	probably damaging	1.00
R1762:Irx5	UTSW	8	93,086,272 (GRCm39)	missense	probably damaging	1.00
R1783:Irx5	UTSW	8	93,086,316 (GRCm39)	missense	probably damaging	1.00
R1951:Irx5	UTSW	8	93,086,438 (GRCm39)	missense	probably damaging	1.00
R1953:Irx5	UTSW	8	93,086,438 (GRCm39)	missense	probably damaging	1.00
R2019:Irx5	UTSW	8	93,084,992 (GRCm39)	missense	probably damaging	1.00
R3875:Irx5	UTSW	8	93,086,793 (GRCm39)	missense	probably benign	0.00
R3942:Irx5	UTSW	8	93,086,314 (GRCm39)	missense	probably damaging	0.98
R4361:Irx5	UTSW	8	93,085,025 (GRCm39)	missense	probably damaging	0.99
R4574:Irx5	UTSW	8	93,084,890 (GRCm39)	missense	probably damaging	0.99
R4994:Irx5	UTSW	8	93,087,409 (GRCm39)	missense	probably damaging	1.00
R5579:Irx5	UTSW	8	93,086,541 (GRCm39)	missense	probably benign	0.01
R5884:Irx5	UTSW	8	93,087,258 (GRCm39)	missense	possibly damaging	0.95
R5988:Irx5	UTSW	8	93,087,299 (GRCm39)	nonsense	probably null
R6017:Irx5	UTSW	8	93,084,878 (GRCm39)	missense	probably damaging	1.00
R6339:Irx5	UTSW	8	93,086,481 (GRCm39)	missense	probably damaging	0.99
R6466:Irx5	UTSW	8	93,086,354 (GRCm39)	missense	probably damaging	1.00
R6595:Irx5	UTSW	8	93,086,247 (GRCm39)	missense	probably damaging	1.00
R8166:Irx5	UTSW	8	93,086,712 (GRCm39)	splice site	probably null
R8215:Irx5	UTSW	8	93,086,241 (GRCm39)	missense	possibly damaging	0.77
R8396:Irx5	UTSW	8	93,086,962 (GRCm39)	missense	probably benign	0.12
R8695:Irx5	UTSW	8	93,087,327 (GRCm39)	missense	probably damaging	1.00
R8991:Irx5	UTSW	8	93,087,135 (GRCm39)	nonsense	probably null
R9412:Irx5	UTSW	8	93,086,351 (GRCm39)	missense	probably damaging	1.00
R9522:Irx5	UTSW	8	93,087,259 (GRCm39)	missense	possibly damaging	0.84
R9708:Irx5	UTSW	8	93,087,118 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GTGTGCTAAACCCTGAACAGC -3'
(R):5'- GGCCAGCATGATCTTCTCTC -3'

Sequencing Primer
(F):5'- AAGGTGGTCACTCTTGCGTTTAAAC -3'
(R):5'- AGCATGATCTTCTCTCCCTTGGTG -3'

Posted On

2019-09-13