Mutagenetix > Incidental Mutation

Incidental Mutation 'R9242:Unk'

701058

Institutional Source

Beutler Lab

Gene Symbol

Unk

Ensembl Gene

ENSMUSG00000020770

Gene Name

unkempt family zinc finger

Synonyms

Zc3h5, B230379M23Rik

MMRRC Submission

068988-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

R9242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115921148-115952040 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115940184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 179 (V179A)

Ref Sequence

ENSEMBL: ENSMUSP00000021116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021116] [ENSMUST00000106452]

AlphaFold

Q8BL48

Predicted Effect

probably benign
Transcript: ENSMUST00000021116
AA Change: V179A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000021116
Gene: ENSMUSG00000020770
AA Change: V179A

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: ENSMUST00000106452
AA Change: V179A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102060
Gene: ENSMUSG00000020770
AA Change: V179A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	C	A	5: 8,949,677 (GRCm39)	T79K	probably damaging	Het
Ackr3	G	T	1: 90,142,558 (GRCm39)	G339V	probably damaging	Het
Agpat4	G	T	17: 12,429,186 (GRCm39)	R146L	probably damaging	Het
Ampd1	C	T	3: 102,998,936 (GRCm39)	R364C	probably damaging	Het
Atrnl1	A	G	19: 57,645,660 (GRCm39)	T507A	probably benign	Het
Cand2	C	G	6: 115,768,923 (GRCm39)	R578G	probably benign	Het
Capg	C	T	6: 72,532,869 (GRCm39)	P111L	probably damaging	Het
Carm1	C	T	9: 21,494,350 (GRCm39)	T289I	probably damaging	Het
Ccr6	A	G	17: 8,474,965 (GRCm39)	I57V	probably benign	Het
Cdk5rap2	T	C	4: 70,255,583 (GRCm39)	I434V	possibly damaging	Het
Chrdl2	C	T	7: 99,655,743 (GRCm39)		probably benign	Het
Cntnap5a	A	G	1: 116,220,109 (GRCm39)	T640A	probably benign	Het
Ctsd	T	C	7: 141,937,280 (GRCm39)		probably null	Het
D17H6S53E	G	T	17: 35,346,536 (GRCm39)	R149L	possibly damaging	Het
Dync1i1	A	G	6: 5,769,706 (GRCm39)	T77A	probably benign	Het
Emc2	T	C	15: 43,358,639 (GRCm39)	M100T	probably benign	Het
Esrra	A	G	19: 6,889,863 (GRCm39)	V290A	probably benign	Het
Fbl	T	C	7: 27,876,620 (GRCm39)	I207T	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gcc1	T	A	6: 28,420,375 (GRCm39)	N314I	possibly damaging	Het
Gzmm	A	T	10: 79,530,354 (GRCm39)	D175V	probably damaging	Het
Heatr1	G	A	13: 12,448,806 (GRCm39)	M1840I	probably benign	Het
Helz	T	C	11: 107,523,153 (GRCm39)	L779P	probably damaging	Het
Impg1	T	A	9: 80,289,064 (GRCm39)	N331I	probably damaging	Het
Inmt	C	T	6: 55,150,270 (GRCm39)		probably null	Het
Inpp5a	C	T	7: 139,061,634 (GRCm39)	T102M	probably damaging	Het
Lamc3	A	G	2: 31,788,323 (GRCm39)	Y161C	probably benign	Het
Lpin2	A	G	17: 71,553,966 (GRCm39)	*932W	probably null	Het
Lrp3	C	T	7: 34,901,934 (GRCm39)	R649H	probably benign	Het
Madd	G	A	2: 90,973,949 (GRCm39)	T1464I	probably damaging	Het
Nceh1	C	A	3: 27,293,777 (GRCm39)	Y178*	probably null	Het
Or5ae2	A	T	7: 84,506,086 (GRCm39)	K172*	probably null	Het
Or5b96	T	A	19: 12,867,989 (GRCm39)		probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptchd4	A	T	17: 42,627,604 (GRCm39)	R22*	probably null	Het
Ptpru	C	T	4: 131,530,341 (GRCm39)	G560S	probably damaging	Het
Ralgapb	G	T	2: 158,277,386 (GRCm39)	R250L	probably benign	Het
Rcor1	T	A	12: 111,076,228 (GRCm39)	Y395*	probably null	Het
Slc35f6	G	T	5: 30,805,410 (GRCm39)		probably benign	Het
Slc40a1	A	G	1: 45,950,129 (GRCm39)	V441A	probably benign	Het
Slc6a13	T	A	6: 121,295,228 (GRCm39)	F77Y	probably damaging	Het
Slc6a15	T	A	10: 103,229,406 (GRCm39)	C148*	probably null	Het
Sox10	T	C	15: 79,040,640 (GRCm39)	Y300C	probably damaging	Het
Tomm70a	T	A	16: 56,958,383 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,537 (GRCm39)	V122A	probably benign	Het
Tpi1	T	C	6: 124,791,138 (GRCm39)	Q33R	probably benign	Het
Ush2a	G	T	1: 188,365,787 (GRCm39)	G2214C	probably damaging	Het
Vmn1r159	T	A	7: 22,542,912 (GRCm39)	Y40F	probably benign	Het
Wbp2nl	T	C	15: 82,192,748 (GRCm39)	V144A	probably benign	Het
Wdpcp	A	G	11: 21,835,040 (GRCm39)	E681G	probably benign	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
R9569:Unk	UTSW	11	115,950,035 (GRCm39)	missense	probably damaging	1.00
Z1176:Unk	UTSW	11	115,938,590 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGTTTACGACATCAGGTAGG -3'
(R):5'- AGACAGGGCAGTTTCAGTTG -3'

Sequencing Primer
(F):5'- TTACGACATCAGGTAGGCTGATGC -3'
(R):5'- TTTCAGTTGGAAAAGGCAGGC -3'

Posted On

2022-03-25