Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:Unk'

721855

Institutional Source

Beutler Lab

Gene Symbol

Unk

Ensembl Gene

ENSMUSG00000020770

Gene Name

unkempt family zinc finger

Synonyms

Zc3h5, B230379M23Rik

MMRRC Submission

068966-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115921148-115952040 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115950035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 747 (Q747L)

Ref Sequence

ENSEMBL: ENSMUSP00000021116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021116] [ENSMUST00000075036] [ENSMUST00000106450] [ENSMUST00000106451] [ENSMUST00000106452] [ENSMUST00000173345] [ENSMUST00000174822]

AlphaFold

Q8BL48

Predicted Effect

probably damaging
Transcript: ENSMUST00000021116
AA Change: Q747L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021116
Gene: ENSMUSG00000020770
AA Change: Q747L

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
low complexity region	70	78	N/A	INTRINSIC
ZnF_C3H1	85	112	1.03e-2	SMART
ZnF_C3H1	124	153	4.3e1	SMART
ZnF_C3H1	215	240	1.1e0	SMART
ZnF_C3H1	251	284	2.17e-1	SMART
ZnF_C3H1	293	320	1.38e-3	SMART
low complexity region	347	365	N/A	INTRINSIC
low complexity region	467	489	N/A	INTRINSIC
low complexity region	563	585	N/A	INTRINSIC
coiled coil region	643	723	N/A	INTRINSIC
RING	769	800	2.74e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075036

SMART Domains

Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
C2	111	261	5.31e-11	SMART
PDB:3SWH\|B	585	735	8e-6	PDB
low complexity region	738	751	N/A	INTRINSIC
Pfam:Membr_traf_MHD	785	892	1.9e-25	PFAM
C2	923	1031	7.93e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106450

SMART Domains

Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
C2	111	261	5.31e-11	SMART
PDB:3SWH\|B	587	737	8e-6	PDB
low complexity region	740	753	N/A	INTRINSIC
Pfam:Membr_traf_MHD	787	894	1.9e-25	PFAM
C2	925	1033	7.93e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106451

SMART Domains

Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
C2	111	261	5.31e-11	SMART
PDB:3SWH\|B	587	737	8e-6	PDB
low complexity region	740	753	N/A	INTRINSIC
Pfam:Membr_traf_MHD	788	838	7.1e-10	PFAM
Pfam:Membr_traf_MHD	830	893	1.4e-15	PFAM
C2	925	1033	7.93e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106452
AA Change: Q734L

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

SMART Domains

Protein: ENSMUSP00000102060
Gene: ENSMUSG00000020770
AA Change: Q734L

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
low complexity region	70	78	N/A	INTRINSIC
ZnF_C3H1	85	112	1.03e-2	SMART
ZnF_C3H1	124	153	4.3e1	SMART
ZnF_C3H1	215	240	1.1e0	SMART
ZnF_C3H1	251	284	2.17e-1	SMART
ZnF_C3H1	293	320	1.38e-3	SMART
low complexity region	454	476	N/A	INTRINSIC
low complexity region	550	572	N/A	INTRINSIC
coiled coil region	630	710	N/A	INTRINSIC
RING	756	787	2.74e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173345

SMART Domains

Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
C2	111	261	5.31e-11	SMART
PDB:3SWH\|B	587	737	5e-6	PDB
low complexity region	740	753	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174822

SMART Domains

Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
C2	111	261	5.31e-11	SMART
PDB:3SWH\|B	585	735	8e-6	PDB
low complexity region	738	751	N/A	INTRINSIC
Pfam:Membr_traf_MHD	785	892	1.9e-25	PFAM
C2	923	1031	7.93e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	T	A	1: 60,503,763 (GRCm39)	V356D	probably damaging	Het
Adgrd1	T	C	5: 129,256,701 (GRCm39)	V690A	possibly damaging	Het
Apba2	T	C	7: 64,393,138 (GRCm39)	M553T	possibly damaging	Het
Apeh	C	T	9: 107,971,609 (GRCm39)	V13M	unknown	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,601,933 (GRCm39)	T177I	probably damaging	Het
Bltp1	T	C	3: 37,066,770 (GRCm39)	M211T		Het
Bub1b	T	C	2: 118,468,884 (GRCm39)	I883T	probably damaging	Het
C9	T	C	15: 6,489,062 (GRCm39)	S140P	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,485 (GRCm39)	I64N	probably benign	Het
Cd180	A	T	13: 102,842,486 (GRCm39)	I511F	possibly damaging	Het
Cic	T	C	7: 24,972,120 (GRCm39)	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,513,075 (GRCm39)		probably null	Het
D5Ertd579e	T	C	5: 36,759,979 (GRCm39)	T1394A	probably damaging	Het
Dclk1	A	T	3: 55,387,852 (GRCm39)	E422D	probably benign	Het
Depdc5	A	T	5: 33,025,321 (GRCm39)	D21V	probably damaging	Het
Dis3l	A	G	9: 64,236,829 (GRCm39)	F40S	unknown	Het
Duox1	T	C	2: 122,148,971 (GRCm39)	V82A	probably benign	Het
Dus2	T	C	8: 106,771,507 (GRCm39)	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,251,316 (GRCm39)	S326N	probably benign	Het
Fat3	A	C	9: 15,830,495 (GRCm39)	L153R		Het
Gpx8	C	T	13: 113,182,125 (GRCm39)	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 89,001,948 (GRCm39)	D268G	probably benign	Het
Hc	T	C	2: 34,926,359 (GRCm39)	I342V	probably benign	Het
Hsp90ab1	T	A	17: 45,879,878 (GRCm39)	D546V	possibly damaging	Het
Ifi206	T	G	1: 173,314,209 (GRCm39)	D77A		Het
Igfbp1	A	G	11: 7,147,881 (GRCm39)		probably benign	Het
Kdm3a	T	C	6: 71,584,434 (GRCm39)	D559G	probably benign	Het
Kif2a	A	G	13: 107,105,246 (GRCm39)	I565T	probably benign	Het
Krt1c	T	C	15: 101,724,924 (GRCm39)	T229A	probably damaging	Het
Lcmt2	G	A	2: 120,970,522 (GRCm39)	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,217,599 (GRCm39)	M241T	probably benign	Het
Mup15	T	C	4: 61,357,875 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,811,629 (GRCm39)	V1912A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Net1	A	G	13: 3,938,518 (GRCm39)	F123S	probably benign	Het
Or1j8	T	C	2: 36,191,946 (GRCm39)	Y132H	probably damaging	Het
Or52n2	C	T	7: 104,542,525 (GRCm39)	M103I	possibly damaging	Het
Or5h17	A	G	16: 58,820,228 (GRCm39)	Y60C	probably damaging	Het
Pcdhb13	T	C	18: 37,576,153 (GRCm39)	F177S	probably damaging	Het
Pclo	T	C	5: 14,907,065 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,039 (GRCm39)	T528A	probably benign	Het
Pik3c2a	C	T	7: 115,957,939 (GRCm39)	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Psd	A	T	19: 46,308,717 (GRCm39)	C639S	possibly damaging	Het
Rffl	T	A	11: 82,703,264 (GRCm39)	T220S	probably benign	Het
Scn2a	A	G	2: 65,560,622 (GRCm39)	D1284G	probably damaging	Het
Scube1	T	C	15: 83,513,605 (GRCm39)	Y385C	probably damaging	Het
Sec14l3	A	T	11: 4,026,324 (GRCm39)	D388V	probably damaging	Het
Slc26a1	G	T	5: 108,819,460 (GRCm39)	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,834,030 (GRCm39)	T343A	probably benign	Het
Slc7a4	A	G	16: 17,393,262 (GRCm39)	V179A		Het
Sox14	T	G	9: 99,757,562 (GRCm39)	D49A		Het
Spata31g1	G	C	4: 42,971,740 (GRCm39)	V358L	probably benign	Het
Timm22	A	G	11: 76,298,196 (GRCm39)	S56G	probably benign	Het
Tmub2	G	A	11: 102,179,153 (GRCm39)	W322*	probably null	Het
Tsc22d4	A	G	5: 137,756,428 (GRCm39)	T8A	probably benign	Het
Ttn	T	C	2: 76,539,652 (GRCm39)	I34445V	probably benign	Het
Tyms	A	T	5: 30,268,360 (GRCm39)	Y196*	probably null	Het
Ube2o	G	A	11: 116,434,823 (GRCm39)	T546M	probably damaging	Het
Umodl1	A	G	17: 31,217,143 (GRCm39)	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Vmn1r170	A	G	7: 23,306,294 (GRCm39)	E232G	probably benign	Het
Vps41	A	G	13: 19,013,396 (GRCm39)	Y338C	possibly damaging	Het
Washc5	T	C	15: 59,215,980 (GRCm39)	M800V	probably benign	Het
Wt1	T	A	2: 104,993,711 (GRCm39)	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,341,242 (GRCm39)	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,906,140 (GRCm39)	M1001T	possibly damaging	Het
Yeats2	A	T	16: 19,972,902 (GRCm39)	R19W	probably damaging	Het
Zfp142	T	C	1: 74,615,386 (GRCm39)	T476A	probably damaging	Het
Zfp229	T	C	17: 21,964,573 (GRCm39)	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,388,971 (GRCm39)	F50S	probably damaging	Het
Zfp975	A	T	7: 42,311,413 (GRCm39)	M400K	probably benign	Het
Zkscan5	A	G	5: 145,144,419 (GRCm39)	M150V	probably benign	Het
Znfx1	T	A	2: 166,897,875 (GRCm39)	I350F		Het

Other mutations in Unk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Unk	APN	11	115,949,205 (GRCm39)	missense	probably benign	0.44
IGL01956:Unk	APN	11	115,947,160 (GRCm39)	missense	probably damaging	1.00
IGL02044:Unk	APN	11	115,940,154 (GRCm39)	missense	probably damaging	0.99
IGL02738:Unk	APN	11	115,947,017 (GRCm39)	missense	probably damaging	1.00
IGL02861:Unk	APN	11	115,947,125 (GRCm39)	missense	possibly damaging	0.58
legal_midget	UTSW	11	115,941,550 (GRCm39)	missense	probably damaging	1.00
produce	UTSW	11	115,942,285 (GRCm39)	missense	probably damaging	1.00
R0098:Unk	UTSW	11	115,940,995 (GRCm39)	missense	probably damaging	1.00
R0098:Unk	UTSW	11	115,940,995 (GRCm39)	missense	probably damaging	1.00
R0827:Unk	UTSW	11	115,943,935 (GRCm39)	missense	possibly damaging	0.59
R1471:Unk	UTSW	11	115,940,235 (GRCm39)	missense	probably benign	0.45
R1824:Unk	UTSW	11	115,921,268 (GRCm39)	unclassified	probably benign
R1900:Unk	UTSW	11	115,949,907 (GRCm39)	missense	probably benign	0.01
R3052:Unk	UTSW	11	115,940,949 (GRCm39)	missense	probably benign	0.01
R4033:Unk	UTSW	11	115,944,353 (GRCm39)	missense	probably benign	0.00
R4449:Unk	UTSW	11	115,944,460 (GRCm39)	missense	probably damaging	1.00
R4593:Unk	UTSW	11	115,939,882 (GRCm39)	missense	probably benign	0.02
R4847:Unk	UTSW	11	115,945,232 (GRCm39)	missense	probably damaging	1.00
R4921:Unk	UTSW	11	115,945,771 (GRCm39)	missense	probably benign
R4940:Unk	UTSW	11	115,944,491 (GRCm39)	missense	possibly damaging	0.63
R5099:Unk	UTSW	11	115,949,936 (GRCm39)	missense	probably benign	0.00
R5838:Unk	UTSW	11	115,940,157 (GRCm39)	missense	probably damaging	1.00
R6351:Unk	UTSW	11	115,945,772 (GRCm39)	missense	probably benign
R6387:Unk	UTSW	11	115,945,766 (GRCm39)	missense	possibly damaging	0.88
R6551:Unk	UTSW	11	115,941,550 (GRCm39)	missense	probably damaging	1.00
R6554:Unk	UTSW	11	115,942,285 (GRCm39)	missense	probably damaging	1.00
R6599:Unk	UTSW	11	115,938,628 (GRCm39)	missense	probably damaging	1.00
R6733:Unk	UTSW	11	115,941,581 (GRCm39)	missense	probably damaging	1.00
R7743:Unk	UTSW	11	115,940,262 (GRCm39)	missense	possibly damaging	0.74
R7765:Unk	UTSW	11	115,943,908 (GRCm39)	missense	probably benign	0.25
R8693:Unk	UTSW	11	115,938,640 (GRCm39)	missense	probably damaging	0.98
R9242:Unk	UTSW	11	115,940,184 (GRCm39)	missense	probably benign	0.01
Z1176:Unk	UTSW	11	115,938,590 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGTGATGCCTGGAAGAAGG -3'
(R):5'- CTTAGGCTAATGGCACTGGAG -3'

Sequencing Primer
(F):5'- TGAGCGGGCCAGTGCAG -3'
(R):5'- ACTGGAGTGCACACCCC -3'

Posted On

2022-08-09