Mutagenetix > Incidental Mutation

Incidental Mutation 'R8693:Unk'

668521

Institutional Source

Beutler Lab

Gene Symbol

Unk

Ensembl Gene

ENSMUSG00000020770

Gene Name

unkempt family zinc finger

Synonyms

Zc3h5, B230379M23Rik

MMRRC Submission

068547-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R8693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115921148-115952040 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115938640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 81 (T81I)

Ref Sequence

ENSEMBL: ENSMUSP00000021116 (fasta)

Gene Model

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

AlphaFold

Q8BL48

Predicted Effect

probably damaging
Transcript: ENSMUST00000021116
AA Change: T81I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021116
Gene: ENSMUSG00000020770
AA Change: T81I

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 damaging
Transcript: ENSMUST00000106452
AA Change: T81I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102060
Gene: ENSMUSG00000020770
AA Change: T81I

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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,810,474 (GRCm39)	S924P	probably benign	Het
Acacb	A	G	5: 114,364,844 (GRCm39)	H1508R	probably damaging	Het
Adam34	T	C	8: 44,104,641 (GRCm39)	M335V	probably benign	Het
Akap8	A	T	17: 32,529,625 (GRCm39)	N438K	probably damaging	Het
Alpi	C	A	1: 87,026,405 (GRCm39)	G529C	unknown	Het
Arhgap30	T	C	1: 171,225,094 (GRCm39)	V50A	probably damaging	Het
Armh1	T	C	4: 117,088,960 (GRCm39)	E145G	probably damaging	Het
Ccdc177	A	G	12: 80,804,582 (GRCm39)	L564P	unknown	Het
Cdk12	C	T	11: 98,141,133 (GRCm39)	P1458L	unknown	Het
Chek1	A	G	9: 36,625,140 (GRCm39)	F314L	probably benign	Het
Cndp1	T	C	18: 84,646,938 (GRCm39)	D250G	probably damaging	Het
Cnot3	T	C	7: 3,656,522 (GRCm39)	V239A	probably benign	Het
Cplane1	T	C	15: 8,258,492 (GRCm39)	M2246T	probably benign	Het
Crhr2	A	G	6: 55,079,779 (GRCm39)	F187S	possibly damaging	Het
Dchs2	T	A	3: 83,192,631 (GRCm39)	V1692D	probably damaging	Het
Dctd	T	A	8: 48,565,046 (GRCm39)	I57N	probably damaging	Het
Dennd5b	A	T	6: 148,911,272 (GRCm39)	L977*	probably null	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dysf	T	C	6: 84,088,952 (GRCm39)	S865P	probably damaging	Het
Eif2ak3	A	T	6: 70,858,535 (GRCm39)	I275F	possibly damaging	Het
Eif2ak4	T	A	2: 118,262,718 (GRCm39)	I757N	probably damaging	Het
Exog	A	G	9: 119,276,108 (GRCm39)	Q110R	possibly damaging	Het
Fbxl4	T	C	4: 22,403,704 (GRCm39)	C426R	probably benign	Het
Fndc11	A	C	2: 180,863,864 (GRCm39)	H223P	probably damaging	Het
Frmd3	T	A	4: 74,080,286 (GRCm39)	S334R	probably damaging	Het
Galnt14	A	T	17: 73,833,257 (GRCm39)	I239N	probably damaging	Het
Gm5930	C	T	14: 44,576,015 (GRCm39)	M1I	probably null	Het
Igkv4-63	A	G	6: 69,355,051 (GRCm39)	S77P	probably benign	Het
Igkv5-48	G	A	6: 69,703,779 (GRCm39)	S42F	probably damaging	Het
Kalrn	T	A	16: 33,854,884 (GRCm39)	Y1992F	probably damaging	Het
Kmt2a	T	C	9: 44,721,981 (GRCm39)	Y3788C	unknown	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lpo	T	C	11: 87,700,066 (GRCm39)	N525S	probably benign	Het
Med1	T	C	11: 98,046,599 (GRCm39)	H1399R	unknown	Het
Mga	T	A	2: 119,794,407 (GRCm39)	V2697E	possibly damaging	Het
Msto1	T	C	3: 88,819,184 (GRCm39)	T188A	probably benign	Het
Nrap	T	C	19: 56,310,384 (GRCm39)	H1456R	probably damaging	Het
Or10d1	G	T	9: 39,483,800 (GRCm39)	P252T	probably damaging	Het
Pbld1	A	T	10: 62,910,890 (GRCm39)	K248*	probably null	Het
Pcdhb12	G	A	18: 37,570,474 (GRCm39)	R540H	probably benign	Het
Pcx	G	T	19: 4,652,039 (GRCm39)	A96S	probably damaging	Het
Plcb1	A	G	2: 135,094,696 (GRCm39)	I174V	probably benign	Het
Psme3	T	C	11: 101,211,422 (GRCm39)	I193T	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rph3a	A	T	5: 121,100,501 (GRCm39)	H132Q	probably damaging	Het
Scrib	C	A	15: 75,936,354 (GRCm39)	D501Y	probably damaging	Het
Sdad1	C	A	5: 92,452,857 (GRCm39)	R127L	probably benign	Het
Setdb1	T	C	3: 95,249,041 (GRCm39)	T356A	probably damaging	Het
Sh3bgrl3	T	C	4: 133,855,116 (GRCm39)	D73G	probably benign	Het
Sipa1l1	G	T	12: 82,216,517 (GRCm39)		probably benign	Het
Slc17a8	G	A	10: 89,428,758 (GRCm39)	A261V	probably benign	Het
Sox6	T	A	7: 115,261,632 (GRCm39)	I195F	probably damaging	Het
Syne1	T	C	10: 5,090,928 (GRCm39)	K809E	possibly damaging	Het
Tmem30c	G	A	16: 57,086,855 (GRCm39)	T316M	probably damaging	Het
Tnfrsf19	T	C	14: 61,208,451 (GRCm39)	T357A	probably benign	Het
Top2a	T	A	11: 98,900,868 (GRCm39)	T574S	probably damaging	Het
Trappc3l	G	A	10: 33,974,917 (GRCm39)	C133Y	probably damaging	Het
Vamp1	G	A	6: 125,217,388 (GRCm39)	R144K	unknown	Het
Wnt9b	T	C	11: 103,624,487 (GRCm39)	N101S	probably damaging	Het
Wwtr1	T	A	3: 57,369,945 (GRCm39)	D390V	probably damaging	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
R9242:Unk	UTSW	11	115,940,184 (GRCm39)	missense	probably benign	0.01
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'- TCTAAAATCCGAGGTCCAGC -3'
(R):5'- AGACTATAGCCAGGCTCCAAAG -3'

Sequencing Primer
(F):5'- CTCTTGCTGTCCCAGTGGG -3'
(R):5'- GCAGCCTCAGCCTAAATGTC -3'

Posted On

2021-04-30