Mutagenetix > Incidental Mutation

Incidental Mutation 'R9331:Unkl'

706874

Institutional Source

Beutler Lab

Gene Symbol

Unkl

Ensembl Gene

ENSMUSG00000015127

Gene Name

unkempt family like zinc finger

Synonyms

1300004G08Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9331 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25407371-25453417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25450723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 503 (C503Y)

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 damaging
Transcript: ENSMUST00000015271
AA Change: C201Y

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

SMART Domains

Protein: ENSMUSP00000015271
Gene: ENSMUSG00000015127
AA Change: C201Y

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: C689Y

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

SMART Domains

Protein: ENSMUSP00000039670
Gene: ENSMUSG00000015127
AA Change: C689Y

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: C503Y

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

SMART Domains

Protein: ENSMUSP00000124276
Gene: ENSMUSG00000015127
AA Change: C503Y

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

probably damaging
Transcript: ENSMUST00000161679
AA Change: C193Y

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

SMART Domains

Protein: ENSMUSP00000125294
Gene: ENSMUSG00000015127
AA Change: C193Y

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 benign
Transcript: ENSMUST00000162498

SMART Domains

Protein: ENSMUSP00000124530
Gene: ENSMUSG00000015127

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,616,324 (GRCm39)	E922G	probably benign	Het
Abca8a	A	G	11: 109,917,154 (GRCm39)	L1615P	probably damaging	Het
Actrt3	T	C	3: 30,652,050 (GRCm39)	D348G	probably damaging	Het
Adam3	A	G	8: 25,177,951 (GRCm39)	M654T	probably benign	Het
Adamts8	A	T	9: 30,862,770 (GRCm39)	H325L	probably damaging	Het
Agpat2	A	G	2: 26,487,318 (GRCm39)	Y72H	probably benign	Het
Ap3m1	A	G	14: 21,095,666 (GRCm39)	Y55H	possibly damaging	Het
Cacna1a	C	T	8: 85,142,446 (GRCm39)	A58V	probably damaging	Het
Cacna1c	C	T	6: 119,084,909 (GRCm39)	V10I		Het
Ccnt1	T	A	15: 98,441,097 (GRCm39)	K724*	probably null	Het
Cd72	T	A	4: 43,454,320 (GRCm39)	T38S	possibly damaging	Het
Crispld1	T	A	1: 17,832,454 (GRCm39)	I480K	probably damaging	Het
Diaph3	G	T	14: 87,378,461 (GRCm39)	Y30*	probably null	Het
Ei24	A	G	9: 36,701,217 (GRCm39)	I34T	possibly damaging	Het
Fdxacb1	G	A	9: 50,681,511 (GRCm39)	S144N	probably damaging	Het
Fgf21	G	T	7: 45,263,614 (GRCm39)	Q155K	probably benign	Het
Gdap1l1	A	T	2: 163,295,664 (GRCm39)	R310S	probably benign	Het
Gm44501	G	A	17: 40,889,620 (GRCm39)	V45I	probably benign	Het
Gne	A	G	4: 44,066,845 (GRCm39)	L56P	probably damaging	Het
Hcn4	T	C	9: 58,767,705 (GRCm39)	S1089P	probably damaging	Het
Hexim1	C	T	11: 103,007,974 (GRCm39)	T76M	probably damaging	Het
Hkdc1	A	T	10: 62,236,114 (GRCm39)	L476*	probably null	Het
Hoxd8	CGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGC	2: 74,535,942 (GRCm39)		probably benign	Het
Hyal4	A	T	6: 24,765,866 (GRCm39)	I407L	probably damaging	Het
Ighv5-9-1	T	C	12: 113,699,878 (GRCm39)	Y78C	possibly damaging	Het
Kif20a	T	A	18: 34,762,562 (GRCm39)	C478*	probably null	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Ltbp2	C	T	12: 84,922,965 (GRCm39)	R34Q	probably benign	Het
Mccc1	A	G	3: 36,014,238 (GRCm39)	V693A	probably damaging	Het
Muc5b	C	A	7: 141,411,475 (GRCm39)	Q1474K	unknown	Het
Nos1	T	C	5: 118,038,589 (GRCm39)	V474A	possibly damaging	Het
Nprl2	G	A	9: 107,421,955 (GRCm39)	V244M	probably damaging	Het
Npy2r	A	G	3: 82,448,068 (GRCm39)	S236P	probably damaging	Het
Or8b9	G	A	9: 37,766,710 (GRCm39)	V199I	probably benign	Het
Or8c10	A	G	9: 38,279,003 (GRCm39)	S44G	probably benign	Het
P2rx7	T	C	5: 122,818,961 (GRCm39)	L461P	probably benign	Het
Pacc1	T	C	1: 191,077,318 (GRCm39)		probably null	Het
Pde12	T	C	14: 26,389,828 (GRCm39)	I294V	probably benign	Het
Plcl1	T	C	1: 55,736,030 (GRCm39)	L457P	possibly damaging	Het
Plekho2	C	A	9: 65,463,866 (GRCm39)	A328S	probably benign	Het
Polg	T	C	7: 79,108,148 (GRCm39)	K556E	probably damaging	Het
Prl7a2	A	G	13: 27,849,062 (GRCm39)	S76P	probably damaging	Het
Ptar1	T	A	19: 23,671,707 (GRCm39)	C37S	probably benign	Het
Pwwp2b	G	A	7: 138,835,357 (GRCm39)	G266D	probably damaging	Het
Pygm	T	C	19: 6,448,129 (GRCm39)	F812L	probably damaging	Het
Smarcc2	A	T	10: 128,323,310 (GRCm39)	T982S	unknown	Het
Spata31e2	T	C	1: 26,722,790 (GRCm39)	R797G	probably benign	Het
Syne1	C	G	10: 5,073,666 (GRCm39)	V1226L	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmub1	T	C	5: 24,650,985 (GRCm39)	T225A	probably damaging	Het
Trmo	A	C	4: 46,387,642 (GRCm39)	C59W	possibly damaging	Het
Ttc6	C	A	12: 57,720,509 (GRCm39)	A925D	probably damaging	Het
Tubb1	A	G	2: 174,297,472 (GRCm39)	E27G	probably damaging	Het
Usp40	A	G	1: 87,901,828 (GRCm39)	I785T	probably damaging	Het
Vmn2r32	G	A	7: 7,467,402 (GRCm39)	Q709*	probably null	Het
Xaf1	T	C	11: 72,197,470 (GRCm39)	S149P	probably damaging	Het
Ythdc2	T	A	18: 44,970,499 (GRCm39)	V271E	possibly damaging	Het
Zfp386	C	T	12: 116,011,433 (GRCm39)		probably benign	Het
Zfp456	T	A	13: 67,514,389 (GRCm39)	E439V	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
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
R9393:Unkl	UTSW	17	25,448,392 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCCAGTGTGACCTACAGAG -3'
(R):5'- GCATGCCCAGGCCTTTATACTG -3'

Sequencing Primer
(F):5'- CAGAGGAAGGCTTGCTGATTTCAC -3'
(R):5'- CTTTATACTGCTCACCAGGGAAGG -3'

Posted On

2022-04-18