Mutagenetix > Incidental Mutation

Incidental Mutation 'R6917:Zfp654'

539418

Institutional Source

Beutler Lab

Gene Symbol

Zfp654

Ensembl Gene

ENSMUSG00000047141

Gene Name

zinc finger protein 654

Synonyms

Gm5488, 1600021C16Rik, 1810008K20Rik

MMRRC Submission

045038-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.723) question?

Stock #

R6917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64600710-64672015 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64606834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 456 (M456K)

Ref Sequence

ENSEMBL: ENSMUSP00000146656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052588] [ENSMUST00000207826]

AlphaFold

Q9DAU9

Predicted Effect

probably benign
Transcript: ENSMUST00000052588

SMART Domains

Protein: ENSMUSP00000052946
Gene: ENSMUSG00000047141

Domain	Start	End	E-Value	Type
ZnF_C2H2	25	47	1.69e-3	SMART
low complexity region	117	132	N/A	INTRINSIC
low complexity region	150	167	N/A	INTRINSIC
ZnF_C2H2	197	222	1.25e-1	SMART
ZnF_C2H2	238	260	4.65e-1	SMART
ZnF_C2H2	266	290	4.98e-1	SMART
ZnF_C2H2	295	319	7.49e0	SMART
ZnF_C2H2	534	554	1.49e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207826
AA Change: M456K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.1059

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.6%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,437,684 (GRCm39)		probably null	Het
Adcy2	A	T	13: 68,768,876 (GRCm39)	M1084K	possibly damaging	Het
Ak1	A	G	2: 32,521,164 (GRCm39)	Y95C	possibly damaging	Het
Akap6	A	G	12: 53,115,951 (GRCm39)	E1018G	probably null	Het
Ccdc175	A	G	12: 72,231,679 (GRCm39)	S27P	probably damaging	Het
Ddx31	C	T	2: 28,782,421 (GRCm39)	T588I	probably damaging	Het
Dmxl1	T	C	18: 49,997,215 (GRCm39)	W504R	probably damaging	Het
Echs1	T	G	7: 139,689,924 (GRCm39)	M239L	probably benign	Het
Eno1b	A	G	18: 48,180,656 (GRCm39)	D278G	probably benign	Het
Eno3	A	G	11: 70,552,262 (GRCm39)	T305A	probably benign	Het
Gm5591	T	A	7: 38,221,614 (GRCm39)	S152C	probably damaging	Het
Gngt1	A	G	6: 3,996,680 (GRCm39)	D42G	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
H2-Aa	T	C	17: 34,502,681 (GRCm39)	T79A	probably damaging	Het
Ice1	A	T	13: 70,743,013 (GRCm39)	Y2116N	probably damaging	Het
Kdm6b	A	G	11: 69,297,419 (GRCm39)	M311T	probably benign	Het
L1td1	T	C	4: 98,622,268 (GRCm39)	F277L	probably benign	Het
Lamp1	T	C	8: 13,222,563 (GRCm39)	I249T	probably damaging	Het
Ldb3	G	A	14: 34,277,321 (GRCm39)	A351V	probably null	Het
Lmo7	A	G	14: 102,155,446 (GRCm39)	E996G	probably damaging	Het
Lsr	T	C	7: 30,657,721 (GRCm39)	D413G	possibly damaging	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,027,592 (GRCm39)		probably benign	Het
Myo7a	T	C	7: 97,744,970 (GRCm39)	E290G	possibly damaging	Het
Nos2	C	T	11: 78,842,053 (GRCm39)	T735M	possibly damaging	Het
Or10ak12	A	T	4: 118,666,326 (GRCm39)	L245H	probably damaging	Het
Or11h6	A	G	14: 50,880,680 (GRCm39)	K314R	possibly damaging	Het
Or8g36	T	A	9: 39,422,495 (GRCm39)	I174L	probably damaging	Het
Pik3c2g	T	C	6: 139,841,899 (GRCm39)	L768P	probably benign	Het
Plod2	T	A	9: 92,475,823 (GRCm39)	V302D	possibly damaging	Het
Ptgdr	A	T	14: 45,096,067 (GRCm39)	V215E	possibly damaging	Het
Rad51d	C	T	11: 82,770,159 (GRCm39)	R199Q	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rtel1	ATT	ATTTT	2: 180,980,070 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,825,388 (GRCm39)	R772G	probably damaging	Het
Slc19a2	C	A	1: 164,088,578 (GRCm39)	T141N	probably damaging	Het
Sp4	G	T	12: 118,262,908 (GRCm39)	N379K	probably damaging	Het
Thrap3	A	G	4: 126,074,285 (GRCm39)		probably benign	Het
Thumpd2	T	G	17: 81,351,543 (GRCm39)	I293L	probably benign	Het
Tjp1	A	G	7: 64,949,436 (GRCm39)	S1649P	probably damaging	Het
Tssk4	A	G	14: 55,889,864 (GRCm39)	S326G	probably benign	Het
Txndc9	A	C	1: 38,034,887 (GRCm39)	S6A	probably benign	Het
Uhrf1	T	C	17: 56,616,574 (GRCm39)	Y131H	probably damaging	Het
Vnn3	A	G	10: 23,741,832 (GRCm39)	D379G	possibly damaging	Het
Vsig2	T	A	9: 37,452,745 (GRCm39)	S105T	probably benign	Het
Zfp445	A	T	9: 122,691,359 (GRCm39)		probably null	Het

Other mutations in Zfp654

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Zfp654	APN	16	64,605,004 (GRCm39)	missense	probably benign	0.02
IGL02043:Zfp654	APN	16	64,605,391 (GRCm39)	missense	probably benign	0.00
IGL02205:Zfp654	APN	16	64,606,329 (GRCm39)	missense	probably damaging	1.00
IGL02337:Zfp654	APN	16	64,605,512 (GRCm39)	missense	probably benign	0.00
IGL02398:Zfp654	APN	16	64,606,381 (GRCm39)	missense	probably benign	0.00
R0025:Zfp654	UTSW	16	64,605,181 (GRCm39)	missense	probably benign	0.31
R0025:Zfp654	UTSW	16	64,605,181 (GRCm39)	missense	probably benign	0.31
R0193:Zfp654	UTSW	16	64,606,051 (GRCm39)	missense	possibly damaging	0.76
R1276:Zfp654	UTSW	16	64,605,699 (GRCm39)	missense	probably damaging	1.00
R1851:Zfp654	UTSW	16	64,605,491 (GRCm39)	missense	probably benign	0.34
R4065:Zfp654	UTSW	16	64,606,288 (GRCm39)	missense	possibly damaging	0.87
R4872:Zfp654	UTSW	16	64,606,145 (GRCm39)	missense	probably benign	0.28
R5693:Zfp654	UTSW	16	64,606,289 (GRCm39)	missense	probably benign	0.00
R6362:Zfp654	UTSW	16	64,606,457 (GRCm39)	nonsense	probably null
R6483:Zfp654	UTSW	16	64,612,310 (GRCm39)	missense	possibly damaging	0.93
R6666:Zfp654	UTSW	16	64,606,596 (GRCm39)	missense	probably benign	0.25
R6852:Zfp654	UTSW	16	64,606,961 (GRCm39)	missense	probably damaging	1.00
R7289:Zfp654	UTSW	16	64,605,523 (GRCm39)	missense	probably benign
R7506:Zfp654	UTSW	16	64,612,211 (GRCm39)	missense	probably damaging	0.98
R7598:Zfp654	UTSW	16	64,606,297 (GRCm39)	missense	possibly damaging	0.49
R7721:Zfp654	UTSW	16	64,606,570 (GRCm39)	missense	probably damaging	1.00
R7791:Zfp654	UTSW	16	64,603,634 (GRCm39)	makesense	probably null
R7884:Zfp654	UTSW	16	64,672,011 (GRCm39)	missense	probably damaging	0.99
R7966:Zfp654	UTSW	16	64,605,239 (GRCm39)	missense	probably damaging	1.00
R8361:Zfp654	UTSW	16	64,612,220 (GRCm39)	missense	probably damaging	1.00
R8487:Zfp654	UTSW	16	64,606,011 (GRCm39)	nonsense	probably null
R8705:Zfp654	UTSW	16	64,605,433 (GRCm39)	missense	possibly damaging	0.46
R9074:Zfp654	UTSW	16	64,611,496 (GRCm39)	missense	probably damaging	0.96
Z1176:Zfp654	UTSW	16	64,606,571 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCACTTTGGAGGTGTTAAGAGC -3'
(R):5'- TTCTTGAGCGTTCCTTAGATGC -3'

Sequencing Primer
(F):5'- GTTAAGAGCAGACAGGCTTCTCTTC -3'
(R):5'- TTAGATGCCTACCACACCGTTGAAG -3'

Posted On

2018-11-06