Mutagenetix > Incidental Mutations

Incidental Mutation 'R5884:Irx5'

454577

Institutional Source

Beutler Lab

Gene Symbol

Irx5

Ensembl Gene

ENSMUSG00000031737

Gene Name

Iroquois homeobox 5

Synonyms

MMRRC Submission

044087-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5884 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92357625-92376286 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 92360630 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 397 (T397P)

Ref Sequence

ENSEMBL: ENSMUSP00000147339 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000034183

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034184
AA Change: T397P

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: T397P

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

possibly damaging
Transcript: ENSMUST00000210246
AA Change: T397P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.6%
20x: 82.8%

Validation Efficiency

96% (66/69)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp5	T	C	9: 75,898,554	M446T	probably damaging	Het
Cacna1g	C	T	11: 94,437,867	A1052T	probably damaging	Het
Cand1	C	T	10: 119,213,765	A359T	possibly damaging	Het
Ccne2	A	T	4: 11,199,411	T271S	probably benign	Het
Cep112	A	G	11: 108,570,316	T546A	probably damaging	Het
Ces1g	A	G	8: 93,306,930	S455P	probably benign	Het
Dnah11	A	T	12: 118,177,534	C496S	probably benign	Het
Dtx3l	C	G	16: 35,932,233	E668Q	probably benign	Het
Dysf	T	A	6: 84,186,081	F1579I	probably damaging	Het
Emx2	T	G	19: 59,464,029	D248E	probably damaging	Het
Eri2	A	C	7: 119,772,329	*275E	probably null	Het
F5	G	A	1: 164,195,646	R1591H	probably benign	Het
Fabp3	A	G	4: 130,312,338	T41A	probably benign	Het
Fam89a	C	T	8: 124,751,769	R14H	probably damaging	Het
Gbe1	T	A	16: 70,528,875		probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Golga3	A	G	5: 110,216,895	E1211G	probably damaging	Het
Gpa33	T	C	1: 166,152,760	S131P	probably damaging	Het
Hyal6	T	C	6: 24,743,369	Y355H	probably damaging	Het
Ide	A	T	19: 37,272,153		probably null	Het
Ighv5-21	A	T	12: 114,320,186		probably benign	Het
Iglc1	A	T	16: 19,061,991		probably benign	Het
Impa1	A	T	3: 10,316,224	N199K	probably damaging	Het
Kdelc1	T	C	1: 44,117,100	N109S	probably benign	Het
Lonp2	A	G	8: 86,641,626	Y356C	probably damaging	Het
Matn4	A	T	2: 164,404,608		probably benign	Het
Nav2	T	A	7: 49,597,169	Y2147*	probably null	Het
Nek5	C	T	8: 22,088,801		probably null	Het
Olfr1014	T	A	2: 85,777,055	I157K	probably damaging	Het
Olfr1164	A	G	2: 88,093,796	Y47H	probably damaging	Het
Olfr1348	C	A	7: 6,501,843	V128L	probably benign	Het
Omt2b	A	G	9: 78,328,557	M55V	probably benign	Het
Parp4	T	A	14: 56,614,750	H796Q	probably damaging	Het
Pex2	T	C	3: 5,561,299	E150G	probably benign	Het
Psmb2	T	A	4: 126,684,221	V64E	possibly damaging	Het
Psmd6	C	T	14: 14,116,526	R63H	probably damaging	Het
Ptprd	A	G	4: 75,982,690	Y1061H	probably damaging	Het
Rab23	A	G	1: 33,724,886		probably benign	Het
Rad51ap2	GAAAAGGAAACTATTTAAAA	GAAAA	12: 11,457,533		probably benign	Het
Reg1	C	T	6: 78,428,217	S141L	possibly damaging	Het
Rock1	A	T	18: 10,099,361	I680K	probably benign	Het
Sez6l2	A	G	7: 126,970,156		probably benign	Het
Slc34a2	A	T	5: 53,069,380	Q615L	possibly damaging	Het
Slu7	A	G	11: 43,443,418	K424E	probably benign	Het
Tctn2	A	T	5: 124,603,832		noncoding transcript	Het
Tmem87a	T	A	2: 120,404,124		probably benign	Het
Trappc4	A	G	9: 44,404,088	F198L	probably damaging	Het
Usp33	C	T	3: 152,368,330	T271I	probably benign	Het
Vmn1r15	T	A	6: 57,259,008	I287K	probably damaging	Het
Vmn2r75	A	C	7: 86,165,370	I305R	probably benign	Het
Wdr26	T	C	1: 181,187,541		probably benign	Het
Zzz3	T	C	3: 152,450,658	S684P	probably damaging	Het

Other mutations in Irx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01735:Irx5	APN	8	92360703	missense	probably damaging	1.00
IGL01870:Irx5	APN	8	92359777	missense	probably damaging	1.00
IGL01985:Irx5	APN	8	92359527	splice site	probably benign
IGL02481:Irx5	APN	8	92360679	missense	probably damaging	1.00
IGL02597:Irx5	APN	8	92360772	missense	possibly damaging	0.93
IGL03257:Irx5	APN	8	92360630	missense	probably benign	0.00
R0784:Irx5	UTSW	8	92360490	missense	probably benign
R1498:Irx5	UTSW	8	92359886	missense	probably damaging	1.00
R1762:Irx5	UTSW	8	92359644	missense	probably damaging	1.00
R1783:Irx5	UTSW	8	92359688	missense	probably damaging	1.00
R1951:Irx5	UTSW	8	92359810	missense	probably damaging	1.00
R1953:Irx5	UTSW	8	92359810	missense	probably damaging	1.00
R2019:Irx5	UTSW	8	92358364	missense	probably damaging	1.00
R3875:Irx5	UTSW	8	92360165	missense	probably benign	0.00
R3942:Irx5	UTSW	8	92359686	missense	probably damaging	0.98
R4361:Irx5	UTSW	8	92358397	missense	probably damaging	0.99
R4574:Irx5	UTSW	8	92358262	missense	probably damaging	0.99
R4994:Irx5	UTSW	8	92360781	missense	probably damaging	1.00
R5579:Irx5	UTSW	8	92359913	missense	probably benign	0.01
R5988:Irx5	UTSW	8	92360671	nonsense	probably null
R6017:Irx5	UTSW	8	92358250	missense	probably damaging	1.00
R6339:Irx5	UTSW	8	92359853	missense	probably damaging	0.99
R6466:Irx5	UTSW	8	92359726	missense	probably damaging	1.00
R6595:Irx5	UTSW	8	92359619	missense	probably damaging	1.00
R7344:Irx5	UTSW	8	92359555	missense	probably benign	0.24
R8166:Irx5	UTSW	8	92360084	splice site	probably null
R8215:Irx5	UTSW	8	92359613	missense	possibly damaging	0.77
R8396:Irx5	UTSW	8	92360334	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TAGCCAAGCCCAAACTGTG -3'
(R):5'- GAGTCTTTGCACAGGTCTAGCTG -3'

Sequencing Primer
(F):5'- AAACTGTGGTCTCTGGCCGAG -3'
(R):5'- TCGGGTCTTTAGCCAAAACG -3'

Posted On

2017-02-10