Mutagenetix > Incidental Mutation

Incidental Mutation 'R6979:Unkl'

542638

Institutional Source

Beutler Lab

Gene Symbol

Unkl

Ensembl Gene

ENSMUSG00000015127

Gene Name

unkempt family like zinc finger

Synonyms

1300004G08Rik

MMRRC Submission

045087-MU

Accession Numbers

Essential gene?

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

Stock #

R6979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25407371-25453417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25418890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 146 (D146G)

Ref Sequence

ENSEMBL: ENSMUSP00000039670 (fasta)

Gene Model

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

AlphaFold

Q5FWH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000039734
AA Change: D146G

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

SMART Domains

Protein: ENSMUSP00000039670
Gene: ENSMUSG00000015127
AA Change: D146G

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

possibly damaging
Transcript: ENSMUST00000160785
AA Change: D121G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124121
Gene: ENSMUSG00000015127
AA Change: D121G

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 benign
Transcript: ENSMUST00000160896

SMART Domains

Protein: ENSMUSP00000124276
Gene: ENSMUSG00000015127

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 59,947,424 (GRCm39)	T374M	probably benign	Het
Aspg	A	G	12: 112,087,378 (GRCm39)	D278G	possibly damaging	Het
Aspm	C	A	1: 139,408,223 (GRCm39)	A2370E	probably damaging	Het
Ccnt2	T	C	1: 127,702,873 (GRCm39)	M65T	probably damaging	Het
Cd163	A	G	6: 124,294,945 (GRCm39)	T670A	probably benign	Het
Cpne3	G	A	4: 19,533,098 (GRCm39)	T279I	probably benign	Het
Ctdspl	G	A	9: 118,869,598 (GRCm39)	V227M	probably damaging	Het
Ctnnd2	A	G	15: 30,619,376 (GRCm39)	E99G	probably damaging	Het
Dapk1	T	C	13: 60,896,095 (GRCm39)	S728P	probably damaging	Het
Dmxl2	A	G	9: 54,358,163 (GRCm39)	I512T	possibly damaging	Het
Dop1a	A	T	9: 86,403,695 (GRCm39)	T1630S	possibly damaging	Het
Dqx1	A	G	6: 83,037,992 (GRCm39)	D460G	probably damaging	Het
Foxg1	T	C	12: 49,431,567 (GRCm39)		probably benign	Het
H2-Q2	T	A	17: 35,564,623 (GRCm39)		probably null	Het
Hes6	T	C	1: 91,340,810 (GRCm39)	E17G	possibly damaging	Het
Ighv1-42	T	C	12: 114,900,848 (GRCm39)	Y79C	possibly damaging	Het
Itfg2	T	C	6: 128,388,554 (GRCm39)	D311G	probably damaging	Het
Itgb5	T	A	16: 33,740,356 (GRCm39)	C489S	probably damaging	Het
Map4k5	A	T	12: 69,869,622 (GRCm39)	C488S	probably damaging	Het
Mark1	C	T	1: 184,644,825 (GRCm39)	G377D	possibly damaging	Het
Mat2a	A	G	6: 72,412,096 (GRCm39)	V318A	probably damaging	Het
Mpp7	T	G	18: 7,355,049 (GRCm39)	N459T	possibly damaging	Het
Mrc2	C	A	11: 105,239,461 (GRCm39)	N1348K	probably damaging	Het
Mroh5	T	C	15: 73,664,978 (GRCm39)	K264R	probably benign	Het
Mtor	A	G	4: 148,608,930 (GRCm39)	M1529V	possibly damaging	Het
Mtrr	C	T	13: 68,718,122 (GRCm39)		probably null	Het
Nwd1	C	T	8: 73,394,288 (GRCm39)	P517L	probably damaging	Het
Or4a27	T	A	2: 88,559,528 (GRCm39)	R138S	probably benign	Het
Or8h10	A	G	2: 86,808,577 (GRCm39)	S188P	probably damaging	Het
Polr1c	A	G	17: 46,557,095 (GRCm39)	F63L	probably damaging	Het
Polrmt	C	T	10: 79,582,400 (GRCm39)		probably null	Het
Pomt2	T	C	12: 87,177,125 (GRCm39)	I287M	probably damaging	Het
Prkar2a	T	A	9: 108,610,342 (GRCm39)	N190K	possibly damaging	Het
Prl3d3	T	A	13: 27,341,545 (GRCm39)	Y59N	possibly damaging	Het
Prl5a1	T	A	13: 28,335,189 (GRCm39)	F199L	probably benign	Het
Prpf38b	A	G	3: 108,818,640 (GRCm39)	V40A	probably benign	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Ptgs1	A	G	2: 36,141,311 (GRCm39)	D586G	probably benign	Het
Slx4	T	C	16: 3,802,879 (GRCm39)	K1312E	probably damaging	Het
Smok3c	A	G	5: 138,062,987 (GRCm39)	D158G	probably benign	Het
Spen	A	T	4: 141,205,374 (GRCm39)	D1084E	unknown	Het
Tcp11l1	C	T	2: 104,536,784 (GRCm39)	G27D	probably benign	Het
Tep1	A	G	14: 51,076,094 (GRCm39)	S1679P	possibly damaging	Het
Tmem259	C	T	10: 79,814,391 (GRCm39)	V322I	possibly damaging	Het
Tmpo	A	T	10: 90,988,359 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,555,137 (GRCm39)	A30623S	probably damaging	Het
Ube2l3	G	A	16: 16,977,841 (GRCm39)		probably benign	Het
Vmn1r51	A	T	6: 90,106,186 (GRCm39)	H34L	possibly damaging	Het
Vmn2r17	A	G	5: 109,576,265 (GRCm39)	T379A	possibly damaging	Het
Zfp35	G	T	18: 24,136,927 (GRCm39)	G424C	probably benign	Het
Zfp420	T	A	7: 29,575,446 (GRCm39)	H555Q	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
R5481:Unkl	UTSW	17	25,420,146 (GRCm39)	nonsense	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
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'- CAGTGTGTTGATCCCTCTGC -3'
(R):5'- CAAGGGTGCACTGAGAACAC -3'

Sequencing Primer
(F):5'- GCTTCCCAGATGCCCTTACCTG -3'
(R):5'- CCCTAGCCTACATAAATTGGGTGTG -3'

Posted On

2018-11-28