Mutagenetix > Incidental Mutation

Incidental Mutation 'R8215:Irx5'

636370

Institutional Source

Beutler Lab

Gene Symbol

Irx5

Ensembl Gene

ENSMUSG00000031737

Gene Name

Iroquois homeobox 5

Synonyms

MMRRC Submission

067657-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93084424-93088084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93086241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 108 (Y108F)

Ref Sequence

ENSEMBL: ENSMUSP00000034184 (fasta)

Gene Model

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

AlphaFold

Q9JKQ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034184
AA Change: Y108F

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: Y108F

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: Y108F

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.8%

Validation Efficiency

100% (59/59)

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
4930407I10Rik	G	T	15: 81,949,301 (GRCm39)	R1066L	probably benign	Het
Abca14	A	C	7: 119,893,425 (GRCm39)	I1292L	probably benign	Het
Adam34l	T	A	8: 44,079,538 (GRCm39)	T229S	probably benign	Het
Adamtsl1	T	G	4: 86,261,382 (GRCm39)	F1206V	probably benign	Het
Agl	T	C	3: 116,582,293 (GRCm39)	H243R	probably damaging	Het
Btn2a2	A	C	13: 23,666,040 (GRCm39)	L264R	probably damaging	Het
Ccdc33	A	T	9: 57,939,995 (GRCm39)	S749T	probably benign	Het
Cd55b	CTTTT	CTTTTT	1: 130,347,337 (GRCm39)		probably null	Het
Cdh8	A	G	8: 99,757,498 (GRCm39)	I700T	possibly damaging	Het
Cfap65	A	G	1: 74,949,902 (GRCm39)	L1201P	probably damaging	Het
Chsy3	C	T	18: 59,308,941 (GRCm39)	Q65*	probably null	Het
Clic5	T	A	17: 44,586,228 (GRCm39)	L239*	probably null	Het
Corin	T	C	5: 72,462,361 (GRCm39)	D957G	probably damaging	Het
Cped1	A	T	6: 22,132,277 (GRCm39)	Y486F	probably damaging	Het
Csnk1g3	C	T	18: 54,081,151 (GRCm39)	T374M	probably benign	Het
D930020B18Rik	T	A	10: 121,503,429 (GRCm39)	C201*	probably null	Het
Dnah2	A	G	11: 69,326,193 (GRCm39)	F3653L	probably damaging	Het
F11r	GGTGTG	GGTGTGTG	1: 171,290,656 (GRCm39)		probably null	Het
Foxj3	T	G	4: 119,478,808 (GRCm39)	S455R	unknown	Het
Gcnt3	T	C	9: 69,941,455 (GRCm39)	D371G	probably damaging	Het
Gm10837	A	G	14: 122,728,193 (GRCm39)	E23G	unknown	Het
Hivep3	T	C	4: 119,980,098 (GRCm39)	V1712A	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hoxa2	A	G	6: 52,140,041 (GRCm39)	V315A	probably damaging	Het
Itsn1	T	C	16: 91,608,996 (GRCm39)	I248T	probably damaging	Het
Kcnb1	T	C	2: 166,946,361 (GRCm39)	K829R	probably benign	Het
Klhl17	A	G	4: 156,314,510 (GRCm39)	V635A	unknown	Het
Krr1	C	T	10: 111,815,834 (GRCm39)	R234*	probably null	Het
Lrrc7	A	T	3: 157,915,387 (GRCm39)	D209E	probably benign	Het
Mcm2	T	C	6: 88,874,293 (GRCm39)	E71G	probably damaging	Het
Mroh5	C	A	15: 73,691,139 (GRCm39)	K10N	probably damaging	Het
Myh3	A	G	11: 66,992,005 (GRCm39)	E1850G	probably damaging	Het
Nedd9	T	C	13: 41,492,319 (GRCm39)	I64V	probably benign	Het
Nisch	A	G	14: 30,908,658 (GRCm39)	S456P	possibly damaging	Het
Nrcam	T	C	12: 44,610,896 (GRCm39)	V532A	probably benign	Het
Or51k1	T	C	7: 103,661,330 (GRCm39)	D193G	possibly damaging	Het
Or5p51	T	G	7: 107,444,124 (GRCm39)	D272A	probably damaging	Het
Or7g32	T	C	9: 19,408,796 (GRCm39)	F251L	probably damaging	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Plekhg1	C	T	10: 3,907,521 (GRCm39)	P868S		Het
Ptf1a	A	G	2: 19,450,760 (GRCm39)	Q30R	possibly damaging	Het
Ptgs1	G	T	2: 36,141,179 (GRCm39)	C542F	probably damaging	Het
Rere	T	A	4: 150,701,424 (GRCm39)	M1268K	possibly damaging	Het
Rp1	A	G	1: 4,315,318 (GRCm39)	F485L	unknown	Het
Samd14	A	T	11: 94,905,213 (GRCm39)	E8D	probably benign	Het
Serpinh1	A	G	7: 98,995,545 (GRCm39)	Y346H	possibly damaging	Het
Shq1	A	T	6: 100,648,021 (GRCm39)	M1K	probably null	Het
Tfrc	T	C	16: 32,443,848 (GRCm39)	S551P	probably damaging	Het
Tnr	A	C	1: 159,715,860 (GRCm39)	N874T	possibly damaging	Het
Trak1	C	A	9: 121,298,096 (GRCm39)	T667N	probably damaging	Het
Trpv2	A	C	11: 62,481,757 (GRCm39)	T423P	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn2r24	A	G	6: 123,756,077 (GRCm39)	T50A	probably benign	Het
Xirp2	T	A	2: 67,346,853 (GRCm39)	D3031E	probably benign	Het
Zbed6	G	T	1: 133,586,530 (GRCm39)	A269E	probably damaging	Het
Zbtb4	A	C	11: 69,669,598 (GRCm39)	I774L	probably benign	Het
Zbtb47	T	C	9: 121,596,344 (GRCm39)	S604P	probably benign	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	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
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'- GCTGGCACTCAAAACCAAGG -3'
(R):5'- ATCCACCAACCTGATTCGGG -3'

Sequencing Primer
(F):5'- CACTCAAAACCAAGGACAGAGGG -3'
(R):5'- GGCGTCCACGTCATCTTG -3'

Posted On

2020-07-13