Mutagenetix > Incidental Mutation

Incidental Mutation 'R5481:Unkl'

434361

Institutional Source

Beutler Lab

Gene Symbol

Unkl

Ensembl Gene

ENSMUSG00000015127

Gene Name

unkempt family like zinc finger

Synonyms

1300004G08Rik

MMRRC Submission

043042-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R5481 (G1)

Quality Score

174

Status

Not validated

Chromosome

Chromosomal Location

25407371-25453417 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 25420146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 13 (Q13*)

Ref Sequence

ENSEMBL: ENSMUSP00000124276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039734] [ENSMUST00000160785] [ENSMUST00000160896]

AlphaFold

Q5FWH2

Predicted Effect

probably null
Transcript: ENSMUST00000039734
AA Change: Q199*

SMART Domains

Protein: ENSMUSP00000039670
Gene: ENSMUSG00000015127
AA Change: Q199*

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: ENSMUST00000160785

SMART Domains

Protein: ENSMUSP00000124121
Gene: ENSMUSG00000015127

Domain	Start	End	E-Value	Type
low complexity region	36	44	N/A	INTRINSIC
Blast:ZnF_C3H1	51	78	3e-12	BLAST
Blast:ZnF_C3H1	90	119	2e-13	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000160896
AA Change: Q13*

SMART Domains

Protein: ENSMUSP00000124276
Gene: ENSMUSG00000015127
AA Change: Q13*

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

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 95.1%
20x: 90.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,759 (GRCm39)	S187P	probably damaging	Het
Aass	C	A	6: 23,113,475 (GRCm39)	V282L	probably benign	Het
Adh6a	G	T	3: 138,031,719 (GRCm39)	V204F	probably damaging	Het
Adrm1b	A	G	3: 92,336,658 (GRCm39)	S15P	possibly damaging	Het
Aspm	A	G	1: 139,384,799 (GRCm39)	K148E	possibly damaging	Het
Atp12a	A	T	14: 56,610,846 (GRCm39)	D330V	possibly damaging	Het
Barhl1	A	G	2: 28,805,352 (GRCm39)	Y114H	probably damaging	Het
BC106179	T	A	16: 23,042,918 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,570,900 (GRCm39)	L792P	probably benign	Het
Calcoco2	A	G	11: 95,998,369 (GRCm39)	V18A	probably damaging	Het
Chpf2	A	T	5: 24,794,340 (GRCm39)	H170L	probably damaging	Het
Chrna1	T	A	2: 73,397,270 (GRCm39)	I340F	possibly damaging	Het
Ckap5	A	T	2: 91,402,792 (GRCm39)	I690F	possibly damaging	Het
Col10a1	A	G	10: 34,271,660 (GRCm39)	H544R	probably benign	Het
Cyp2b19	A	C	7: 26,466,246 (GRCm39)	T350P	probably damaging	Het
Dgkq	A	G	5: 108,796,676 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,030,828 (GRCm39)	V443A	possibly damaging	Het
Erbb3	T	C	10: 128,408,349 (GRCm39)	D855G	probably damaging	Het
Fam3c	T	C	6: 22,321,357 (GRCm39)	D138G	probably benign	Het
Fen1	A	G	19: 10,178,022 (GRCm39)	C141R	probably damaging	Het
Flnc	G	A	6: 29,441,216 (GRCm39)	G390D	probably damaging	Het
Fnip1	C	A	11: 54,393,470 (GRCm39)	D635E	probably benign	Het
Fry	A	T	5: 150,183,784 (GRCm39)	L17F	probably benign	Het
Fsip2	T	C	2: 82,810,230 (GRCm39)	I2183T	probably benign	Het
Gfpt1	T	A	6: 87,027,951 (GRCm39)	I19N	probably damaging	Het
Hus1b	T	C	13: 31,130,942 (GRCm39)	D239G	probably benign	Het
Kif1a	T	C	1: 92,987,966 (GRCm39)	K546R	probably benign	Het
Kmt2d	A	G	15: 98,759,886 (GRCm39)	V1124A	unknown	Het
Krtap16-1	A	G	11: 99,876,153 (GRCm39)	I417T	probably damaging	Het
Manba	A	T	3: 135,230,317 (GRCm39)	N297Y	possibly damaging	Het
Mblac1	A	G	5: 138,193,078 (GRCm39)	D140G	probably damaging	Het
Mlh1	T	C	9: 111,058,905 (GRCm39)		probably null	Het
Morc1	T	A	16: 48,381,848 (GRCm39)		probably null	Het
Morc3	C	A	16: 93,659,543 (GRCm39)	P449Q	probably damaging	Het
Mtr	T	C	13: 12,203,041 (GRCm39)		probably null	Het
Mylk	T	A	16: 34,741,974 (GRCm39)	C829S	probably benign	Het
Myo1d	A	G	11: 80,553,921 (GRCm39)	I520T	possibly damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nos1	A	T	5: 118,005,819 (GRCm39)	I180F	probably benign	Het
Ntsr1	C	T	2: 180,183,313 (GRCm39)	T341M	possibly damaging	Het
Or8b51	A	T	9: 38,568,916 (GRCm39)	F257L	probably benign	Het
P2rx7	A	G	5: 122,818,883 (GRCm39)	D435G	possibly damaging	Het
Peli2	C	A	14: 48,490,090 (GRCm39)	N136K	probably damaging	Het
Pigt	C	A	2: 164,348,342 (GRCm39)	P429H	probably damaging	Het
Pik3r2	T	C	8: 71,222,408 (GRCm39)	I515V	probably benign	Het
Pkhd1l1	A	G	15: 44,422,042 (GRCm39)	Y3104C	probably damaging	Het
Ppp1r16a	A	C	15: 76,575,221 (GRCm39)	E43A	probably damaging	Het
Ptpn18	T	C	1: 34,510,744 (GRCm39)	L260P	possibly damaging	Het
Scaf11	A	T	15: 96,318,498 (GRCm39)	S355R	probably damaging	Het
Sema4a	A	T	3: 88,360,347 (GRCm39)	Y77*	probably null	Het
Serpinb9b	T	C	13: 33,222,076 (GRCm39)	V230A	possibly damaging	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc22a30	T	C	19: 8,314,201 (GRCm39)	N495S	probably benign	Het
Srcap	G	A	7: 127,131,369 (GRCm39)	G836D	probably damaging	Het
Stard4	A	C	18: 33,338,298 (GRCm39)	C137W	probably benign	Het
Stat6	A	G	10: 127,483,695 (GRCm39)		probably null	Het
Steap3	T	C	1: 120,169,454 (GRCm39)	D243G	probably benign	Het
Taf1c	A	G	8: 120,325,979 (GRCm39)	S628P	probably damaging	Het
Usp38	A	G	8: 81,719,952 (GRCm39)	S426P	possibly damaging	Het
Vmn2r8	T	C	5: 108,949,636 (GRCm39)	T404A	probably benign	Het
Washc1	T	C	17: 66,425,860 (GRCm39)	V425A	probably benign	Het
Zfyve9	A	G	4: 108,501,546 (GRCm39)	I590T	probably damaging	Het

Other mutations in Unkl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Unkl	APN	17	25,429,822 (GRCm39)	missense	probably benign	0.00
IGL02011:Unkl	APN	17	25,437,565 (GRCm39)	missense	probably damaging	1.00
IGL02141:Unkl	APN	17	25,448,408 (GRCm39)	missense	probably damaging	1.00
R0226:Unkl	UTSW	17	25,449,685 (GRCm39)	missense	probably damaging	0.96
R0394:Unkl	UTSW	17	25,449,751 (GRCm39)	critical splice donor site	probably null
R0638:Unkl	UTSW	17	25,427,057 (GRCm39)	splice site	probably benign
R1364:Unkl	UTSW	17	25,408,597 (GRCm39)	missense	probably benign
R1596:Unkl	UTSW	17	25,424,707 (GRCm39)	missense	probably null	1.00
R1899:Unkl	UTSW	17	25,448,434 (GRCm39)	splice site	probably null
R1960:Unkl	UTSW	17	25,428,619 (GRCm39)	splice site	probably benign
R3774:Unkl	UTSW	17	25,407,381 (GRCm39)	splice site	probably null
R3927:Unkl	UTSW	17	25,448,303 (GRCm39)	missense	probably damaging	0.99
R5164:Unkl	UTSW	17	25,432,083 (GRCm39)	splice site	probably null
R5520:Unkl	UTSW	17	25,424,584 (GRCm39)	missense	probably damaging	1.00
R5559:Unkl	UTSW	17	25,424,687 (GRCm39)	missense	probably benign	0.00
R6267:Unkl	UTSW	17	25,450,839 (GRCm39)	makesense	probably null
R6296:Unkl	UTSW	17	25,450,839 (GRCm39)	makesense	probably null
R6883:Unkl	UTSW	17	25,449,307 (GRCm39)	missense	probably damaging	1.00
R6979:Unkl	UTSW	17	25,418,890 (GRCm39)	missense	probably damaging	1.00
R7752:Unkl	UTSW	17	25,437,627 (GRCm39)	missense	probably damaging	1.00
R7901:Unkl	UTSW	17	25,437,627 (GRCm39)	missense	probably damaging	1.00
R8712:Unkl	UTSW	17	25,450,689 (GRCm39)	missense	possibly damaging	0.63
R9170:Unkl	UTSW	17	25,448,350 (GRCm39)	missense	probably benign	0.00
R9331:Unkl	UTSW	17	25,450,723 (GRCm39)	missense	probably damaging	1.00
R9393:Unkl	UTSW	17	25,448,392 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACCCTCGGGCTATAACTGC -3'
(R):5'- TACCCACCAAGGTAGTGTGAC -3'

Sequencing Primer
(F):5'- CTCGGGCTATAACTGCTGTACTG -3'
(R):5'- ACCAAGGTAGTGTGACGGCTC -3'

Posted On

2016-10-06