Mutagenetix > Incidental Mutation

Incidental Mutation 'R1251:Irx6'

151762

Institutional Source

Beutler Lab

Gene Symbol

Irx6

Ensembl Gene

ENSMUSG00000031738

Gene Name

Iroquois homeobox 6

Synonyms

MMRRC Submission

039318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93400917-93407584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93404881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 250 (S250G)

Ref Sequence

ENSEMBL: ENSMUSP00000127446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034185] [ENSMUST00000167261]

AlphaFold

Q9ER75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034185
AA Change: S250G

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034185
Gene: ENSMUSG00000031738
AA Change: S250G

Domain	Start	End	E-Value	Type
low complexity region	19	24	N/A	INTRINSIC
low complexity region	38	46	N/A	INTRINSIC
HOX	143	208	1.76e-13	SMART
coiled coil region	247	280	N/A	INTRINSIC
IRO	338	355	9e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167261
AA Change: S250G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127446
Gene: ENSMUSG00000031738
AA Change: S250G

Domain	Start	End	E-Value	Type
low complexity region	19	24	N/A	INTRINSIC
low complexity region	38	46	N/A	INTRINSIC
HOX	143	208	1.76e-13	SMART
coiled coil region	247	280	N/A	INTRINSIC
IRO	338	355	9e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210252

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display abnormalities in retinal bipolar cell subtype identity and reduced electroretinography a and b wave amplitudes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acap2	A	T	16: 30,926,989 (GRCm39)	Y509N	probably damaging	Het
Adcy9	T	A	16: 4,129,395 (GRCm39)	E497V	probably damaging	Het
Bcat2	T	G	7: 45,225,410 (GRCm39)	L56R	probably damaging	Het
Ccdc146	T	C	5: 21,498,370 (GRCm39)	M952V	probably benign	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cfap46	C	T	7: 139,181,181 (GRCm39)	V2607I	probably benign	Het
Clec18a	T	C	8: 111,808,270 (GRCm39)	I54V	possibly damaging	Het
Coil	A	G	11: 88,873,125 (GRCm39)	E455G	possibly damaging	Het
Copg1	A	T	6: 87,866,989 (GRCm39)	K75*	probably null	Het
Cyp2j12	G	A	4: 96,003,903 (GRCm39)	Q238*	probably null	Het
Eif3i	T	C	4: 129,487,178 (GRCm39)	E229G	probably damaging	Het
Exoc2	T	A	13: 31,070,259 (GRCm39)	N411Y	probably benign	Het
Eya2	T	A	2: 165,596,404 (GRCm39)	M305K	probably damaging	Het
Faim	C	T	9: 98,874,687 (GRCm39)	T78M	probably damaging	Het
Fgg	T	A	3: 82,920,287 (GRCm39)	D355E	probably benign	Het
Foxn1	A	G	11: 78,249,611 (GRCm39)	L638P	probably damaging	Het
Grid2ip	A	T	5: 143,371,770 (GRCm39)	E664D	possibly damaging	Het
Il1rn	A	G	2: 24,235,582 (GRCm39)	R21G	probably damaging	Het
Ilrun	C	T	17: 28,005,044 (GRCm39)		probably null	Het
Inpp4b	G	A	8: 82,617,382 (GRCm39)	G220R	probably benign	Het
Lyst	T	C	13: 13,809,068 (GRCm39)	I246T	probably benign	Het
Mcm3	G	A	1: 20,882,896 (GRCm39)	Q353*	probably null	Het
Mfhas1	A	G	8: 36,058,207 (GRCm39)	Y894C	probably damaging	Het
Mfsd13a	T	C	19: 46,360,492 (GRCm39)	L348P	probably damaging	Het
Necab1	A	G	4: 15,111,192 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,284,205 (GRCm39)	S160T	possibly damaging	Het
Npc2	A	G	12: 84,807,658 (GRCm39)	S67P	probably damaging	Het
Or5e1	T	G	7: 108,354,114 (GRCm39)	F17C	probably damaging	Het
Or5m9b	G	A	2: 85,905,164 (GRCm39)	V27M	probably benign	Het
Pcnx3	A	G	19: 5,727,210 (GRCm39)	F1108L	probably benign	Het
Phf21a	G	A	2: 92,189,544 (GRCm39)	S601N	probably benign	Het
Pold1	C	T	7: 44,184,475 (GRCm39)	V842I	probably benign	Het
Rabgap1	A	G	2: 37,433,246 (GRCm39)		probably null	Het
Setd1a	T	A	7: 127,396,596 (GRCm39)		probably benign	Het
Sgo2a	A	T	1: 58,039,121 (GRCm39)		probably null	Het
Sult2a8	T	A	7: 14,159,350 (GRCm39)	K90*	probably null	Het
Tlr2	T	C	3: 83,745,576 (GRCm39)	D169G	possibly damaging	Het
Tmem95	A	G	11: 69,767,655 (GRCm39)	F153S	probably benign	Het
Tube1	G	T	10: 39,010,204 (GRCm39)	G10*	probably null	Het
Vmn2r10	T	C	5: 109,143,890 (GRCm39)	M687V	probably benign	Het
Zc3h8	G	A	2: 128,777,289 (GRCm39)	P117S	probably benign	Het
Zeb1	T	A	18: 5,705,089 (GRCm39)	D18E	probably damaging	Het

Other mutations in Irx6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Irx6	APN	8	93,402,717 (GRCm39)	nonsense	probably null
IGL02308:Irx6	APN	8	93,403,659 (GRCm39)	missense	probably damaging	1.00
R0308:Irx6	UTSW	8	93,403,659 (GRCm39)	missense	probably damaging	1.00
R1191:Irx6	UTSW	8	93,403,580 (GRCm39)	missense	probably damaging	1.00
R4161:Irx6	UTSW	8	93,402,919 (GRCm39)	missense	possibly damaging	0.78
R4368:Irx6	UTSW	8	93,405,029 (GRCm39)	missense	probably damaging	1.00
R4924:Irx6	UTSW	8	93,404,981 (GRCm39)	missense	probably benign	0.25
R4950:Irx6	UTSW	8	93,405,428 (GRCm39)	missense	probably damaging	1.00
R5425:Irx6	UTSW	8	93,404,145 (GRCm39)	critical splice donor site	probably null
R6455:Irx6	UTSW	8	93,402,700 (GRCm39)	missense	probably benign	0.04
R6969:Irx6	UTSW	8	93,403,958 (GRCm39)	missense	probably damaging	1.00
R7019:Irx6	UTSW	8	93,405,362 (GRCm39)	missense	probably damaging	0.99
R7128:Irx6	UTSW	8	93,403,994 (GRCm39)	missense	probably damaging	1.00
R7133:Irx6	UTSW	8	93,405,041 (GRCm39)	missense	probably damaging	1.00
R8182:Irx6	UTSW	8	93,403,642 (GRCm39)	nonsense	probably null
R8546:Irx6	UTSW	8	93,405,264 (GRCm39)	missense	probably benign	0.19
R8955:Irx6	UTSW	8	93,405,040 (GRCm39)	missense	probably damaging	1.00
Z1176:Irx6	UTSW	8	93,404,999 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AGCAGTGCAAAGTAACCTTCCCTTG -3'
(R):5'- TGCTGTGATGAAGTCAGCTTCCC -3'

Sequencing Primer
(F):5'- ACAGACAGCCTTGGAGCTTG -3'
(R):5'- ATGAAGTCAGCTTCCCCTGATTG -3'

Posted On

2014-01-29