Mutagenetix > Incidental Mutation

Incidental Mutation 'R9708:Irx5'

729902

Institutional Source

Beutler Lab

Gene Symbol

Irx5

Ensembl Gene

ENSMUSG00000031737

Gene Name

Iroquois homeobox 5

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9708 (G1)

Quality Score

162.009

Status

Not validated

Chromosome

Chromosomal Location

93084424-93088084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93087118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 350 (D350V)

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: D350V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: D350V

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

possibly damaging
Transcript: ENSMUST00000210246
AA Change: D350V

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.1%
20x: 97.6%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,254,417 (GRCm39)	N576I	probably damaging	Het
Acss1	G	T	2: 150,471,752 (GRCm39)	T334K	probably damaging	Het
Alox5	A	G	6: 116,392,537 (GRCm39)	L328P	probably damaging	Het
Armc2	A	T	10: 41,839,744 (GRCm39)	M407K	possibly damaging	Het
Asb3	A	T	11: 31,051,075 (GRCm39)	I471F	probably benign	Het
Asph	G	A	4: 9,542,233 (GRCm39)	R335W	probably damaging	Het
B4galnt4	A	G	7: 140,647,657 (GRCm39)	E415G	probably benign	Het
Btn2a2	G	A	13: 23,662,907 (GRCm39)	P348S	possibly damaging	Het
Catsper2	A	G	2: 121,237,321 (GRCm39)	V193A	possibly damaging	Het
Ccdc112	G	A	18: 46,444,780 (GRCm39)	A33V	probably benign	Het
Cfap221	T	A	1: 119,860,619 (GRCm39)	Y669F	probably damaging	Het
D030056L22Rik	T	G	19: 18,690,776 (GRCm39)	L30R	possibly damaging	Het
Fanca	C	A	8: 124,001,263 (GRCm39)	G1091*	probably null	Het
Foxl1	A	G	8: 121,855,077 (GRCm39)	D126G	possibly damaging	Het
Gba1	T	C	3: 89,112,801 (GRCm39)	S148P	probably damaging	Het
Gem	G	A	4: 11,711,154 (GRCm39)	R115H	possibly damaging	Het
Gm4924	T	G	10: 82,214,992 (GRCm39)	L930R	unknown	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Kng2	G	T	16: 22,815,801 (GRCm39)	P365Q	probably damaging	Het
Lrp4	A	T	2: 91,342,076 (GRCm39)	E1896D	probably benign	Het
Lrrk2	C	A	15: 91,634,482 (GRCm39)	Y1415*	probably null	Het
Map2k7	C	A	8: 4,295,806 (GRCm39)	H429N	probably benign	Het
Mogat1	T	A	1: 78,488,633 (GRCm39)	L12Q	probably damaging	Het
Mov10	C	T	3: 104,704,613 (GRCm39)	R766H	probably benign	Het
Mthfr	G	T	4: 148,128,978 (GRCm39)	E225*	probably null	Het
Mtmr11	T	C	3: 96,076,403 (GRCm39)	F453L	possibly damaging	Het
Naip2	T	C	13: 100,298,087 (GRCm39)	N650D	probably damaging	Het
Nek3	C	T	8: 22,618,742 (GRCm39)	G497R	unknown	Het
Nol4	G	T	18: 22,828,053 (GRCm39)	A337E	probably damaging	Het
Nrxn2	A	G	19: 6,581,882 (GRCm39)	T1606A	probably benign	Het
Odad2	G	T	18: 7,288,633 (GRCm39)	T78K	probably benign	Het
Or2ab1	G	A	11: 58,488,927 (GRCm39)	R229H	probably benign	Het
Or4a71	T	C	2: 89,358,214 (GRCm39)	N180S	probably benign	Het
Or5b124	G	A	19: 13,610,760 (GRCm39)	C95Y	probably damaging	Het
Or5p6	T	C	7: 107,631,259 (GRCm39)	Y97C	probably benign	Het
Paox	C	T	7: 139,712,359 (GRCm39)	R197*	probably null	Het
Pcdha8	A	G	18: 37,125,548 (GRCm39)	D10G	probably benign	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Phkb	T	G	8: 86,783,119 (GRCm39)	S972A	probably benign	Het
Pik3c2g	T	A	6: 139,606,865 (GRCm39)	M304K	probably benign	Het
Rnf144b	A	G	13: 47,397,912 (GRCm39)	I281V	probably damaging	Het
Robo2	C	T	16: 73,770,197 (GRCm39)	G509E	possibly damaging	Het
Sap30l	A	G	11: 57,696,936 (GRCm39)	R89G	probably damaging	Het
Scrn2	C	T	11: 96,922,928 (GRCm39)	R124W	probably damaging	Het
Shcbp1l	A	T	1: 153,328,011 (GRCm39)	N574I	probably damaging	Het
Slfn8	T	C	11: 82,894,267 (GRCm39)	I791V	probably benign	Het
Stard13	C	T	5: 150,986,961 (GRCm39)	S183N	possibly damaging	Het
Tent5a	A	G	9: 85,207,267 (GRCm39)	M177T	possibly damaging	Het
Tpbg	A	G	9: 85,726,574 (GRCm39)	N181S	probably benign	Het
Tsc22d1	T	A	14: 76,654,664 (GRCm39)	V381D	possibly damaging	Het
Uhrf1	A	G	17: 56,629,357 (GRCm39)	D735G	probably benign	Het
Vmn2r13	T	A	5: 109,322,007 (GRCm39)	D230V	probably benign	Het
Vwf	T	A	6: 125,634,053 (GRCm39)	V2116E		Het
Zfp616	G	A	11: 73,976,283 (GRCm39)	G851S	probably damaging	Het
Zranb1	G	T	7: 132,584,600 (GRCm39)	E623*	probably null	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
R7344:Irx5	UTSW	8	93,086,183 (GRCm39)	missense	probably benign	0.24
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

Predicted Primers

PCR Primer
(F):5'- GACTCGGATTTTAAGGAGTCGTC -3'
(R):5'- CCGTGTAATAAAGAGGCCGG -3'

Sequencing Primer
(F):5'- AAGACGCGGGTCCTCACTAC -3'
(R):5'- TGTAATAAAGAGGCCGGGACAGC -3'

Posted On

2022-10-06