Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Unkl'

281543

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unkl

Ensembl Gene

ENSMUSG00000015127

Gene Name

unkempt family like zinc finger

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

25188397-25234443 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25229434 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 327 (L327P)

Ref Sequence

ENSEMBL: ENSMUSP00000124276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015271] [ENSMUST00000038973] [ENSMUST00000039734] [ENSMUST00000115154] [ENSMUST00000160896] [ENSMUST00000161679] [ENSMUST00000162498]

AlphaFold

Q5FWH2

Predicted Effect

probably benign
Transcript: ENSMUST00000015271

SMART Domains

Protein: ENSMUSP00000015271
Gene: ENSMUSG00000015127

Domain	Start	End	E-Value	Type
coiled coil region	73	154	N/A	INTRINSIC
RING	198	232	4.13e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000038973

SMART Domains

Protein: ENSMUSP00000042073
Gene: ENSMUSG00000035521

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PRKCSH	69	152	1.4e-10	PFAM
DMAP_binding	176	278	2.55e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000039734
AA Change: L513P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039670
Gene: ENSMUSG00000015127
AA Change: L513P

Domain	Start	End	E-Value	Type
low complexity region	61	69	N/A	INTRINSIC
ZnF_C3H1	76	103	1.33e-1	SMART
Blast:ZnF_C3H1	115	144	7e-13	BLAST
ZnF_C3H1	207	232	2.49e1	SMART
ZnF_C3H1	243	276	9.28e-1	SMART
ZnF_C3H1	285	312	8.47e-4	SMART
low complexity region	371	412	N/A	INTRINSIC
low complexity region	463	495	N/A	INTRINSIC
low complexity region	499	505	N/A	INTRINSIC
low complexity region	511	527	N/A	INTRINSIC
coiled coil region	561	642	N/A	INTRINSIC
RING	686	720	4.13e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115154

SMART Domains

Protein: ENSMUSP00000110807
Gene: ENSMUSG00000035521

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PRKCSH	69	151	3.9e-11	PFAM
DMAP_binding	183	285	2.55e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160896
AA Change: L327P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124276
Gene: ENSMUSG00000015127
AA Change: L327P

Domain	Start	End	E-Value	Type
ZnF_C3H1	21	46	2.49e1	SMART
ZnF_C3H1	57	90	9.28e-1	SMART
ZnF_C3H1	99	126	8.47e-4	SMART
low complexity region	185	226	N/A	INTRINSIC
low complexity region	277	309	N/A	INTRINSIC
low complexity region	313	319	N/A	INTRINSIC
low complexity region	325	341	N/A	INTRINSIC
coiled coil region	375	456	N/A	INTRINSIC
RING	500	534	4.13e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161679
AA Change: L17P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125294
Gene: ENSMUSG00000015127
AA Change: L17P

Domain	Start	End	E-Value	Type
low complexity region	3	9	N/A	INTRINSIC
low complexity region	15	31	N/A	INTRINSIC
coiled coil region	65	146	N/A	INTRINSIC
RING	190	224	4.13e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162498
AA Change: L101P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124530
Gene: ENSMUSG00000015127
AA Change: L101P

Domain	Start	End	E-Value	Type
low complexity region	51	83	N/A	INTRINSIC
low complexity region	87	93	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200	F203L	probably damaging	Het
Arntl2	T	A	6: 146,828,095		probably benign	Het
Atf6b	C	A	17: 34,653,277	H539Q	probably benign	Het
Bpifb5	G	T	2: 154,229,557		probably null	Het
Cep89	T	A	7: 35,420,924	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118		probably null	Het
Cops5	T	C	1: 10,035,117	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,493,889	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696		probably benign	Het
Eci2	T	A	13: 34,978,673	T300S	probably benign	Het
Egf	C	A	3: 129,739,982	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422		probably null	Het
Fam167a	T	A	14: 63,452,259	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104		probably benign	Het
Gpr158	A	T	2: 21,783,290	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074		probably benign	Het
Luc7l	C	A	17: 26,253,080	T17K	probably damaging	Het
Mroh1	G	T	15: 76,446,599	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367	C1091G	unknown	Het
Mut	A	G	17: 40,938,817	T228A	possibly damaging	Het
Nppb	A	T	4: 147,986,006	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015	K907E	probably damaging	Het
Olfr1351	A	G	10: 79,017,721	Y133C	probably damaging	Het
Olfr344	A	G	2: 36,568,808	D70G	probably damaging	Het
Olfr362	G	A	2: 37,105,425	S75F	probably benign	Het
Pcnx	A	T	12: 81,860,382	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397	S887T	probably benign	Het
Plec	T	C	15: 76,175,615	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844	N216K	probably benign	Het
Suox	A	G	10: 128,672,098		probably benign	Het
Tars	T	A	15: 11,391,194	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179		probably null	Het
Ubtd2	A	T	11: 32,499,262	K36N	probably benign	Het
Vmn1r11	T	A	6: 57,137,379	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953	H403R	probably damaging	Het

Other mutations in Unkl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Unkl	APN	17	25210848	missense	probably benign	0.00
IGL02011:Unkl	APN	17	25218591	missense	probably damaging	1.00
R0226:Unkl	UTSW	17	25230711	missense	probably damaging	0.96
R0394:Unkl	UTSW	17	25230777	critical splice donor site	probably null
R0638:Unkl	UTSW	17	25208083	splice site	probably benign
R1364:Unkl	UTSW	17	25189623	missense	probably benign
R1596:Unkl	UTSW	17	25205733	missense	probably null	1.00
R1899:Unkl	UTSW	17	25229460	splice site	probably null
R1960:Unkl	UTSW	17	25209645	splice site	probably benign
R3774:Unkl	UTSW	17	25188407	splice site	probably null
R3927:Unkl	UTSW	17	25229329	missense	probably damaging	0.99
R5164:Unkl	UTSW	17	25213109	splice site	probably null
R5481:Unkl	UTSW	17	25201172	nonsense	probably null
R5520:Unkl	UTSW	17	25205610	missense	probably damaging	1.00
R5559:Unkl	UTSW	17	25205713	missense	probably benign	0.00
R6267:Unkl	UTSW	17	25231865	makesense	probably null
R6296:Unkl	UTSW	17	25231865	makesense	probably null
R6883:Unkl	UTSW	17	25230333	missense	probably damaging	1.00
R6979:Unkl	UTSW	17	25199916	missense	probably damaging	1.00
R7752:Unkl	UTSW	17	25218653	missense	probably damaging	1.00
R7901:Unkl	UTSW	17	25218653	missense	probably damaging	1.00
R8712:Unkl	UTSW	17	25231715	missense	possibly damaging	0.63
R9170:Unkl	UTSW	17	25229376	missense	probably benign	0.00
R9331:Unkl	UTSW	17	25231749	missense	probably damaging	1.00
R9393:Unkl	UTSW	17	25229418	missense	probably damaging	0.99

Posted On

2015-04-16