Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03149:Ikzf5'

410995

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ikzf5

Ensembl Gene

ENSMUSG00000040167

Gene Name

IKAROS family zinc finger 5

Synonyms

Zfpn1a5, 2610034F18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03149

Quality Score

Status

Chromosome

Chromosomal Location

130990378-131012243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130998494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 13 (K13E)

Ref Sequence

ENSEMBL: ENSMUSP00000113714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046306] [ENSMUST00000121033] [ENSMUST00000124096] [ENSMUST00000128432] [ENSMUST00000142349] [ENSMUST00000154602] [ENSMUST00000207243]

AlphaFold

Q8BU00

Predicted Effect

probably damaging
Transcript: ENSMUST00000046306
AA Change: K13E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035583
Gene: ENSMUSG00000040167
AA Change: K13E

Domain	Start	End	E-Value	Type
ZnF_C2H2	82	104	3.58e-2	SMART
ZnF_C2H2	110	132	1.53e-1	SMART
ZnF_C2H2	138	161	1.79e-2	SMART
low complexity region	289	320	N/A	INTRINSIC
ZnF_C2H2	364	386	8.09e0	SMART
ZnF_C2H2	392	416	9.22e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121033
AA Change: K13E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113714
Gene: ENSMUSG00000040167
AA Change: K13E

Domain	Start	End	E-Value	Type
ZnF_C2H2	82	104	3.58e-2	SMART
low complexity region	136	167	N/A	INTRINSIC
ZnF_C2H2	211	233	8.09e0	SMART
ZnF_C2H2	239	263	9.22e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128432
AA Change: K13E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139528
Gene: ENSMUSG00000040167
AA Change: K13E

Domain	Start	End	E-Value	Type
ZnF_C2H2	82	104	1.5e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142349
AA Change: K13E

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154602
AA Change: K13E

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

SMART Domains

Protein: ENSMUSP00000123530
Gene: ENSMUSG00000040167
AA Change: K13E

Domain	Start	End	E-Value	Type
ZnF_C2H2	82	104	3.58e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207243
AA Change: K13E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208084

Predicted Effect

probably benign
Transcript: ENSMUST00000207489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208966

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	A	G	8: 78,136,167 (GRCm39)		probably benign	Het
Arhgap42	A	G	9: 9,008,085 (GRCm39)	I546T	possibly damaging	Het
Arsj	A	T	3: 126,233,053 (GRCm39)		probably benign	Het
Ash2l	A	G	8: 26,308,650 (GRCm39)	V543A	probably benign	Het
B4galnt3	A	G	6: 120,208,555 (GRCm39)		probably benign	Het
Blvra	T	A	2: 126,924,871 (GRCm39)	V11E	probably damaging	Het
Calcb	T	C	7: 114,319,371 (GRCm39)	L51P	probably damaging	Het
Cd36	T	A	5: 18,025,563 (GRCm39)	K52N	probably benign	Het
Cebpz	T	C	17: 79,229,982 (GRCm39)	N857S	probably benign	Het
Ces1b	A	G	8: 93,791,502 (GRCm39)		probably benign	Het
Clspn	T	C	4: 126,470,295 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,674 (GRCm39)	L283H	probably damaging	Het
Ctc1	T	C	11: 68,921,987 (GRCm39)	V811A	possibly damaging	Het
Ctsk	T	C	3: 95,408,730 (GRCm39)	S65P	possibly damaging	Het
Ddx51	A	G	5: 110,801,600 (GRCm39)	N83D	probably benign	Het
Eci2	T	C	13: 35,172,296 (GRCm39)	T146A	probably benign	Het
Erbin	T	C	13: 103,977,671 (GRCm39)	N629D	possibly damaging	Het
Etfbkmt	A	G	6: 149,045,781 (GRCm39)	E45G	probably damaging	Het
Fat4	A	G	3: 39,045,834 (GRCm39)	N3951S	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Garem1	G	T	18: 21,264,523 (GRCm39)	P534T	probably damaging	Het
Gm8237	A	G	14: 5,864,451 (GRCm38)	I37T	probably benign	Het
Kl	T	A	5: 150,906,200 (GRCm39)	C523*	probably null	Het
Klhl7	G	A	5: 24,364,687 (GRCm39)	V574I	probably benign	Het
Lyst	T	C	13: 13,856,029 (GRCm39)	V2450A	probably benign	Het
Map3k6	A	T	4: 132,976,999 (GRCm39)	I819F	probably damaging	Het
Mphosph9	T	C	5: 124,401,074 (GRCm39)	E891G	probably damaging	Het
Myo7b	A	G	18: 32,147,355 (GRCm39)	S63P	probably damaging	Het
Ndufaf7	C	T	17: 79,252,439 (GRCm39)	R283C	possibly damaging	Het
Nepro	G	T	16: 44,547,462 (GRCm39)	A60S	probably damaging	Het
Nop56	T	C	2: 130,119,445 (GRCm39)	S354P	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Or4a80	T	C	2: 89,583,172 (GRCm39)		probably null	Het
Or52ad1	A	T	7: 102,996,056 (GRCm39)	H26Q	probably benign	Het
Pacsin3	T	A	2: 91,091,852 (GRCm39)		probably benign	Het
Parp12	C	T	6: 39,091,165 (GRCm39)	D142N	probably benign	Het
Pcdh15	G	A	10: 74,466,527 (GRCm39)	D1449N	probably damaging	Het
Pcsk7	C	T	9: 45,820,778 (GRCm39)	T70M	probably benign	Het
Pld4	T	C	12: 112,733,263 (GRCm39)	F280L	probably benign	Het
Ppm1k	C	A	6: 57,501,759 (GRCm39)	A135S	probably damaging	Het
Prkcq	A	T	2: 11,237,356 (GRCm39)	Y45F	probably benign	Het
Prom1	T	A	5: 44,187,076 (GRCm39)	I385F	probably damaging	Het
Prss12	A	G	3: 123,299,036 (GRCm39)	N603D	probably benign	Het
Ptbp2	G	T	3: 119,514,074 (GRCm39)	T501K	possibly damaging	Het
Ranbp17	C	A	11: 33,193,183 (GRCm39)	R957L	possibly damaging	Het
Rasl10a	T	C	11: 5,008,429 (GRCm39)	Y42H	possibly damaging	Het
Serpina9	G	A	12: 103,974,869 (GRCm39)	Q95*	probably null	Het
Serpinb1b	C	A	13: 33,269,275 (GRCm39)	Q3K	possibly damaging	Het
Sgo2b	T	A	8: 64,379,617 (GRCm39)	M1072L	probably benign	Het
Slc1a5	T	C	7: 16,523,745 (GRCm39)	V250A	probably damaging	Het
Slc30a6	T	C	17: 74,730,018 (GRCm39)	S303P	probably damaging	Het
Tbc1d2	A	T	4: 46,637,619 (GRCm39)	I209N	probably benign	Het
Tmc4	T	A	7: 3,670,177 (GRCm39)	I484L	probably benign	Het
Ttll5	G	A	12: 85,965,758 (GRCm39)	E36K	probably damaging	Het
Unc93b1	A	G	19: 3,994,041 (GRCm39)	M391V	probably benign	Het
Xpo5	T	A	17: 46,526,740 (GRCm39)		probably null	Het

Other mutations in Ikzf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0545:Ikzf5	UTSW	7	130,994,229 (GRCm39)	missense	possibly damaging	0.87
R0583:Ikzf5	UTSW	7	130,993,514 (GRCm39)	splice site	probably null
R1471:Ikzf5	UTSW	7	130,993,496 (GRCm39)	missense	probably damaging	1.00
R2680:Ikzf5	UTSW	7	130,998,490 (GRCm39)	missense	probably damaging	1.00
R4496:Ikzf5	UTSW	7	130,998,393 (GRCm39)	splice site	probably null
R4625:Ikzf5	UTSW	7	130,995,482 (GRCm39)	critical splice donor site	probably null
R6307:Ikzf5	UTSW	7	130,993,377 (GRCm39)	missense	probably damaging	1.00
R6828:Ikzf5	UTSW	7	130,993,401 (GRCm39)	missense	probably damaging	1.00
R7475:Ikzf5	UTSW	7	130,993,788 (GRCm39)	missense	probably benign	0.31
R9733:Ikzf5	UTSW	7	130,994,012 (GRCm39)	missense	probably benign	0.03

Posted On

2016-08-02