Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Zfp68'

715699

Institutional Source

Beutler Lab

Gene Symbol

Zfp68

Ensembl Gene

ENSMUSG00000058291

Gene Name

zinc finger protein 68

Synonyms

Zfp68, Zfp70, KRAZ2, KRAB3

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.847) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138603652-138619761 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138607255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 269 (N269D)

Ref Sequence

ENSEMBL: ENSMUSP00000069615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063262] [ENSMUST00000085852] [ENSMUST00000110905] [ENSMUST00000129832]

AlphaFold

Q9Z116

Predicted Effect

probably benign
Transcript: ENSMUST00000063262
AA Change: N269D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069615
Gene: ENSMUSG00000058291
AA Change: N269D

Domain	Start	End	E-Value	Type
KRAB	10	70	1.11e-30	SMART
ZnF_C2H2	317	339	1.58e-3	SMART
ZnF_C2H2	345	367	3.16e-3	SMART
ZnF_C2H2	373	395	5.5e-3	SMART
ZnF_C2H2	401	423	2.27e-4	SMART
ZnF_C2H2	429	451	3.44e-4	SMART
ZnF_C2H2	457	479	3.07e-1	SMART
ZnF_C2H2	485	507	2.09e-3	SMART
ZnF_C2H2	513	535	3.29e-1	SMART
ZnF_C2H2	541	563	2.99e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085852
AA Change: N231D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083013
Gene: ENSMUSG00000058291
AA Change: N231D

Domain	Start	End	E-Value	Type
KRAB	1	32	6e-1	SMART
ZnF_C2H2	279	301	1.58e-3	SMART
ZnF_C2H2	307	329	3.16e-3	SMART
ZnF_C2H2	335	357	5.5e-3	SMART
ZnF_C2H2	363	385	2.27e-4	SMART
ZnF_C2H2	391	413	3.44e-4	SMART
ZnF_C2H2	419	441	3.07e-1	SMART
ZnF_C2H2	447	469	2.09e-3	SMART
ZnF_C2H2	475	497	3.29e-1	SMART
ZnF_C2H2	503	525	2.99e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110905
AA Change: N269D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106530
Gene: ENSMUSG00000058291
AA Change: N269D

Domain	Start	End	E-Value	Type
KRAB	10	70	1.11e-30	SMART
ZnF_C2H2	317	339	1.58e-3	SMART
ZnF_C2H2	345	367	3.16e-3	SMART
ZnF_C2H2	373	395	5.5e-3	SMART
ZnF_C2H2	401	423	2.27e-4	SMART
ZnF_C2H2	429	451	3.44e-4	SMART
ZnF_C2H2	457	479	3.07e-1	SMART
ZnF_C2H2	485	507	2.09e-3	SMART
ZnF_C2H2	513	535	3.29e-1	SMART
ZnF_C2H2	541	563	2.99e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129832

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,016,468	W243R	probably damaging	Het
Ablim1	T	G	19: 57,239,180	K18Q	probably benign	Het
Adamts18	T	A	8: 113,777,938	N174Y	possibly damaging	Het
Agbl2	A	G	2: 90,784,093	H23R	probably benign	Het
Akap6	T	G	12: 53,010,552	Y934D	probably damaging	Het
Alas1	C	T	9: 106,234,062	S635N	probably benign	Het
Ankrd24	A	G	10: 81,642,299		probably null	Het
Atp6v0a4	A	G	6: 38,060,982	L560P	probably damaging	Het
Cacng1	C	T	11: 107,716,292	V34M	possibly damaging	Het
Clcn3	C	T	8: 60,934,517	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,799,135	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,130	S719G	probably damaging	Het
Exosc2	G	A	2: 31,674,743	V107I	probably benign	Het
Fam83b	C	A	9: 76,491,803	V673F	probably benign	Het
Fras1	T	C	5: 96,780,070	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,998,660	L289H	probably damaging	Het
Garem1	T	C	18: 21,148,313	I329V	probably benign	Het
Gli3	G	A	13: 15,725,711	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,574,361	F72S	possibly damaging	Het
Hao1	T	A	2: 134,548,261	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Iqcm	A	G	8: 75,753,455	E347G	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnrg	A	G	14: 61,607,657	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,235,346	G524S	probably benign	Het
Lrrn1	A	T	6: 107,568,300	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,805,471	T623A	probably benign	Het
Ndst4	C	A	3: 125,714,647	S287*	probably null	Het
Ntrk3	A	C	7: 78,302,732	M579R	probably benign	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr169	T	C	16: 19,566,520	D121G	probably benign	Het
Olfr857	T	C	9: 19,713,643	M272T	probably benign	Het
Paqr5	T	A	9: 61,956,225	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,007,538	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,167,927	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,494,380	Q186*	probably null	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,495,738	G161C	probably damaging	Het
Ptprk	T	C	10: 28,334,480	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Rpap2	T	A	5: 107,620,589	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,102,064	K160*	probably null	Het
Sema7a	T	C	9: 57,954,905	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,753,027	L741F	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Skint6	C	T	4: 112,806,840		probably null	Het
Skiv2l	A	T	17: 34,841,102	D897E	probably benign	Het
Slc35f3	T	C	8: 126,382,254	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,529,216	E127V	probably null	Het
Spata5	T	C	3: 37,431,909	V260A	probably benign	Het
Speg	C	T	1: 75,388,091	T372I	probably damaging	Het
Syce1l	A	G	8: 113,655,103	T204A	probably benign	Het
Tas2r138	T	A	6: 40,612,458	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,213,604	K285N	probably damaging	Het
Trim9	T	A	12: 70,346,454	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,209,280	S1293P	probably benign	Het
Uaca	C	T	9: 60,872,216	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,875,569	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,216,260	R201C	probably damaging	Het
Vps45	T	G	3: 96,042,925	T231P	probably damaging	Het
Wdr17	A	T	8: 54,635,477	D1186E	probably benign	Het
Zfp534	G	A	4: 147,682,274	T8I	probably benign	Het

Other mutations in Zfp68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02167:Zfp68	APN	5	138606367	missense	probably benign	0.00
R0040:Zfp68	UTSW	5	138607779	missense	probably benign	0.24
R0040:Zfp68	UTSW	5	138607779	missense	probably benign	0.24
R0152:Zfp68	UTSW	5	138606613	missense	probably damaging	1.00
R0390:Zfp68	UTSW	5	138607225	missense	probably benign	0.14
R1490:Zfp68	UTSW	5	138606829	missense	probably benign	0.16
R4688:Zfp68	UTSW	5	138616481	nonsense	probably null
R4992:Zfp68	UTSW	5	138607337	missense	possibly damaging	0.50
R5072:Zfp68	UTSW	5	138606317	missense	probably benign	0.01
R7076:Zfp68	UTSW	5	138606939	missense	possibly damaging	0.49
R7117:Zfp68	UTSW	5	138606318	missense	probably benign	0.01
R7332:Zfp68	UTSW	5	138606568	missense	possibly damaging	0.90
R8399:Zfp68	UTSW	5	138607820	missense	probably benign	0.02
R9012:Zfp68	UTSW	5	138607021	missense	probably damaging	1.00
R9041:Zfp68	UTSW	5	138606437	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGTGCTCTGATGTCTATTGAAGC -3'
(R):5'- TGATACCAGGGAAATCCTTCAACAC -3'

Sequencing Primer
(F):5'- GTTTTCCAATAAAAGCACTTGCCAC -3'
(R):5'- GGGAAATCCTTCAACACAAAAGCAG -3'

Posted On

2022-06-15