Mutagenetix > Incidental Mutation

Incidental Mutation 'R4361:Irx5'

324916

Institutional Source

Beutler Lab

Gene Symbol

Irx5

Ensembl Gene

ENSMUSG00000031737

Gene Name

Iroquois homeobox 5

Synonyms

MMRRC Submission

041112-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4361 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

93084424-93088084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93085025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 72 (A72S)

Ref Sequence

ENSEMBL: ENSMUSP00000034184 (fasta)

Gene Model

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

AlphaFold

Q9JKQ4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000034183

Predicted Effect

probably damaging
Transcript: ENSMUST00000034184
AA Change: A72S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: A72S

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

noncoding transcript
Transcript: ENSMUST00000179029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180102

Predicted Effect

probably benign
Transcript: ENSMUST00000210246
AA Change: A72S

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0741

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (61/61)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,139,688 (GRCm39)	T538A	probably damaging	Het
4930578I07Rik	T	C	14: 67,175,850 (GRCm39)		noncoding transcript	Het
Aadac	T	A	3: 59,947,182 (GRCm39)	S293R	probably benign	Het
Cc2d1b	G	A	4: 108,481,947 (GRCm39)		probably benign	Het
Ccdc157	C	T	11: 4,096,550 (GRCm39)	A400T	probably damaging	Het
Cdc42ep5	A	G	7: 4,154,779 (GRCm39)	V3A	possibly damaging	Het
Cyp11b1	T	A	15: 74,710,865 (GRCm39)	M232L	possibly damaging	Het
Dhrs2	G	A	14: 55,478,646 (GRCm39)	D264N	probably damaging	Het
Dram2	T	C	3: 106,473,531 (GRCm39)		probably benign	Het
Dtx4	C	A	19: 12,462,660 (GRCm39)	S373I	probably benign	Het
Eif4a1	G	A	11: 69,558,290 (GRCm39)		probably benign	Het
Eps15	T	C	4: 109,237,228 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,362,676 (GRCm39)	Q235L	probably damaging	Het
Fgfr3	T	C	5: 33,880,676 (GRCm39)		probably benign	Het
Gabra4	C	T	5: 71,790,888 (GRCm39)		probably null	Het
Gins1	A	G	2: 150,767,821 (GRCm39)	Y117C	probably damaging	Het
Gm12253	T	A	11: 58,325,687 (GRCm39)	S53T	probably benign	Het
Gne	C	A	4: 44,059,947 (GRCm39)	A149S	possibly damaging	Het
Gpc2	A	T	5: 138,276,552 (GRCm39)	C191*	probably null	Het
Has2	G	T	15: 56,545,344 (GRCm39)	A86E	probably damaging	Het
Ift80	A	T	3: 68,870,982 (GRCm39)	S205T	probably damaging	Het
Kcnmb4	A	T	10: 116,309,410 (GRCm39)	V6E	probably benign	Het
Kcnt1	A	T	2: 25,768,044 (GRCm39)	Q51L	probably benign	Het
Klk1b11	A	G	7: 43,645,378 (GRCm39)		probably null	Het
Kmt2d	T	G	15: 98,761,551 (GRCm39)	M600L	unknown	Het
Lmtk2	T	A	5: 144,084,482 (GRCm39)	S172R	probably damaging	Het
Lrrc37	CTTTT	CTTTTT	11: 103,508,327 (GRCm39)		probably null	Het
Lrrc46	G	A	11: 96,925,496 (GRCm39)		probably benign	Het
Mab21l2	C	T	3: 86,454,497 (GRCm39)	V168M	probably damaging	Het
Magea3	A	C	X: 153,731,850 (GRCm39)	C218G	possibly damaging	Het
Magea3	C	A	X: 153,731,849 (GRCm39)	C218F	probably benign	Het
Man1a2	T	C	3: 100,563,358 (GRCm39)	K96E	probably benign	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myf6	GGGGGCAG	GG	10: 107,330,293 (GRCm39)		probably benign	Het
Myom2	G	A	8: 15,162,018 (GRCm39)	V984I	possibly damaging	Het
Nav1	G	A	1: 135,535,175 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,688,847 (GRCm39)	K477E	probably damaging	Het
Nup98	T	A	7: 101,794,921 (GRCm39)	H862L	probably damaging	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcnx2	G	T	8: 126,495,037 (GRCm39)	S1608*	probably null	Het
Pramel16	A	G	4: 143,677,433 (GRCm39)	F49L	possibly damaging	Het
Ren1	A	G	1: 133,286,779 (GRCm39)	I303V	probably benign	Het
Retreg3	T	A	11: 100,994,713 (GRCm39)		probably null	Het
Rnf6	C	A	5: 146,148,089 (GRCm39)	V310F	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scrn2	C	T	11: 96,923,064 (GRCm39)	A169V	probably null	Het
Slc4a10	T	C	2: 62,073,729 (GRCm39)	S264P	probably benign	Het
Tex26	A	T	5: 149,384,388 (GRCm39)	Q102L	probably benign	Het
Tex38	A	G	4: 115,637,420 (GRCm39)	S128P	probably benign	Het
Trmt1l	A	G	1: 151,311,626 (GRCm39)		probably benign	Het
Tyr	G	T	7: 87,078,284 (GRCm39)	H525Q	probably benign	Het
Veph1	T	C	3: 66,066,737 (GRCm39)	N417S	probably benign	Het
Zfp597	A	T	16: 3,683,764 (GRCm39)	S331T	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
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
R9708:Irx5	UTSW	8	93,087,118 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- ATCTTGGCAGGACCTTTGC -3'
(R):5'- TGCTCAAGTTTGCAAGGGC -3'

Sequencing Primer
(F):5'- CAGGGCTACTTGTACCAGC -3'
(R):5'- TTTGCAAGGGCCGCGAAG -3'

Posted On

2015-07-06