Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4361 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

92357625-92376286 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92358397 bp

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]

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: 83,162,706	T538A	probably damaging	Het
1700027J19Rik	A	G	7: 4,151,780	V3A	possibly damaging	Het
4930578I07Rik	T	C	14: 66,938,401		noncoding transcript	Het
Aadac	T	A	3: 60,039,761	S293R	probably benign	Het
Cc2d1b	G	A	4: 108,624,750		probably benign	Het
Ccdc157	C	T	11: 4,146,550	A400T	probably damaging	Het
Cyp11b1	T	A	15: 74,839,016	M232L	possibly damaging	Het
Dhrs2	G	A	14: 55,241,189	D264N	probably damaging	Het
Dram2	T	C	3: 106,566,215		probably benign	Het
Dtx4	C	A	19: 12,485,296	S373I	probably benign	Het
Eif4a1	G	A	11: 69,667,464		probably benign	Het
Eps15	T	C	4: 109,380,031		probably null	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fam135b	T	A	15: 71,490,827	Q235L	probably damaging	Het
Fgfr3	T	C	5: 33,723,332		probably benign	Het
Gabra4	C	T	5: 71,633,545		probably null	Het
Gins1	A	G	2: 150,925,901	Y117C	probably damaging	Het
Gm12253	T	A	11: 58,434,861	S53T	probably benign	Het
Gm884	CTTTT	CTTTTT	11: 103,617,501		probably null	Het
Gne	C	A	4: 44,059,947	A149S	possibly damaging	Het
Gpc2	A	T	5: 138,278,290	C191*	probably null	Het
Has2	G	T	15: 56,681,948	A86E	probably damaging	Het
Ift80	A	T	3: 68,963,649	S205T	probably damaging	Het
Kcnmb4	A	T	10: 116,473,505	V6E	probably benign	Het
Kcnt1	A	T	2: 25,878,032	Q51L	probably benign	Het
Klk1b11	A	G	7: 43,995,954		probably null	Het
Kmt2d	T	G	15: 98,863,670	M600L	unknown	Het
Lmtk2	T	A	5: 144,147,664	S172R	probably damaging	Het
Lrrc46	G	A	11: 97,034,670		probably benign	Het
Mab21l2	C	T	3: 86,547,190	V168M	probably damaging	Het
Magea3	C	A	X: 154,948,853	C218F	probably benign	Het
Magea3	A	C	X: 154,948,854	C218G	possibly damaging	Het
Man1a2	T	C	3: 100,656,042	K96E	probably benign	Het
Mroh2a	A	T	1: 88,254,965	N1205I	possibly damaging	Het
Myf6	GGGGGCAG	GG	10: 107,494,432		probably benign	Het
Myom2	G	A	8: 15,112,018	V984I	possibly damaging	Het
Nav1	G	A	1: 135,607,437		probably benign	Het
Nav3	T	C	10: 109,852,986	K477E	probably damaging	Het
Nup98	T	A	7: 102,145,714	H862L	probably damaging	Het
Pcnx2	G	T	8: 125,768,298	S1608*	probably null	Het
Pramef25	A	G	4: 143,950,863	F49L	possibly damaging	Het
Ren1	A	G	1: 133,359,041	I303V	probably benign	Het
Retreg3	T	A	11: 101,103,887		probably null	Het
Rnf6	C	A	5: 146,211,279	V310F	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scrn2	C	T	11: 97,032,238	A169V	probably null	Het
Slc4a10	T	C	2: 62,243,385	S264P	probably benign	Het
Tex26	A	T	5: 149,460,923	Q102L	probably benign	Het
Tex38	A	G	4: 115,780,223	S128P	probably benign	Het
Trmt1l	A	G	1: 151,435,875		probably benign	Het
Tyr	G	T	7: 87,429,076	H525Q	probably benign	Het
Veph1	T	C	3: 66,159,316	N417S	probably benign	Het
Zfp597	A	T	16: 3,865,900	S331T	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
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
R5884:Irx5	UTSW	8	92360630	missense	possibly damaging	0.95
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'- ATCTTGGCAGGACCTTTGC -3'
(R):5'- TGCTCAAGTTTGCAAGGGC -3'

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

Posted On

2015-07-06