Mutagenetix > Incidental Mutation

Incidental Mutation 'R9418:Zfp467'

712163

Institutional Source

Beutler Lab

Gene Symbol

Zfp467

Ensembl Gene

ENSMUSG00000068551

Gene Name

zinc finger protein 467

Synonyms

EZI, MNCb-3350, 1190001I08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R9418 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48404631-48422759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48415990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 221 (C221S)

Ref Sequence

ENSEMBL: ENSMUSP00000110207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101443] [ENSMUST00000114556] [ENSMUST00000114558] [ENSMUST00000114559] [ENSMUST00000114560] [ENSMUST00000114561] [ENSMUST00000114563] [ENSMUST00000114564] [ENSMUST00000114566] [ENSMUST00000141449]

AlphaFold

Q8JZL0

Predicted Effect

probably benign
Transcript: ENSMUST00000101443

Predicted Effect

probably benign
Transcript: ENSMUST00000114556

Predicted Effect

probably benign
Transcript: ENSMUST00000114558

Predicted Effect

probably benign
Transcript: ENSMUST00000114559

Predicted Effect

probably damaging
Transcript: ENSMUST00000114560
AA Change: C221S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110207
Gene: ENSMUSG00000068551
AA Change: C221S

Domain	Start	End	E-Value	Type
low complexity region	98	110	N/A	INTRINSIC
ZnF_C2H2	160	182	1.26e-2	SMART
ZnF_C2H2	188	210	1.67e-2	SMART
ZnF_C2H2	216	238	2.12e-4	SMART
ZnF_C2H2	244	266	5.9e-3	SMART
ZnF_C2H2	272	294	1.47e-3	SMART
ZnF_C2H2	300	322	1.82e-3	SMART
ZnF_C2H2	355	377	9.58e-3	SMART
ZnF_C2H2	430	452	7.26e-3	SMART
ZnF_C2H2	458	480	1.56e-2	SMART
ZnF_C2H2	486	508	1.18e-2	SMART
ZnF_C2H2	514	536	3.11e-2	SMART
ZnF_C2H2	542	564	2.43e-4	SMART
low complexity region	567	585	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114561
AA Change: C221S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110208
Gene: ENSMUSG00000068551
AA Change: C221S

Domain	Start	End	E-Value	Type
low complexity region	98	110	N/A	INTRINSIC
ZnF_C2H2	160	182	1.26e-2	SMART
ZnF_C2H2	188	210	1.67e-2	SMART
ZnF_C2H2	216	238	2.12e-4	SMART
ZnF_C2H2	244	266	5.9e-3	SMART
ZnF_C2H2	272	294	1.47e-3	SMART
ZnF_C2H2	300	322	1.82e-3	SMART
ZnF_C2H2	355	377	9.58e-3	SMART
ZnF_C2H2	430	452	7.26e-3	SMART
ZnF_C2H2	458	480	1.56e-2	SMART
ZnF_C2H2	486	508	1.18e-2	SMART
ZnF_C2H2	514	536	3.11e-2	SMART
ZnF_C2H2	542	564	2.43e-4	SMART
low complexity region	567	585	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114563

Predicted Effect

probably benign
Transcript: ENSMUST00000114564

Predicted Effect

probably benign
Transcript: ENSMUST00000114566

Predicted Effect

probably benign
Transcript: ENSMUST00000141449

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein whose function has not yet been elucidated in humans. However, the mouse ortholog of this protein enhances adipocyte differentiation and suppresses osteoblast differentiation in bone marrow. The mouse protein also is a transcription factor for several genes and can help recruit histone deacetylase complexes. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	A	5: 138,645,317 (GRCm39)	G401R	probably damaging	Het
Adgrf5	G	A	17: 43,737,864 (GRCm39)	V233I	probably benign	Het
Ankrd34b	A	G	13: 92,575,232 (GRCm39)	K155E	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc141	A	T	2: 76,871,766 (GRCm39)	H839Q	probably benign	Het
Ccdc18	T	C	5: 108,303,669 (GRCm39)	L251P	probably damaging	Het
Ciita	G	T	16: 10,319,765 (GRCm39)	E63*	probably null	Het
Cmya5	T	C	13: 93,226,209 (GRCm39)	T2960A	probably benign	Het
Cyp2b13	A	T	7: 25,761,110 (GRCm39)	I56F	probably benign	Het
Dcaf4	A	T	12: 83,586,606 (GRCm39)	Y422F	probably benign	Het
Dhrs7b	A	T	11: 60,746,594 (GRCm39)	I228F	probably damaging	Het
Drosha	T	C	15: 12,885,167 (GRCm39)	S853P	probably benign	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Fap	G	A	2: 62,385,181 (GRCm39)	Q65*	probably null	Het
Fbxo47	T	A	11: 97,747,067 (GRCm39)	N333I	possibly damaging	Het
Fem1al	C	T	11: 29,774,632 (GRCm39)	C275Y	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gpr171	T	C	3: 59,004,999 (GRCm39)	T259A	possibly damaging	Het
Hectd2	T	A	19: 36,589,574 (GRCm39)	S595T	probably benign	Het
Hexa	A	G	9: 59,464,592 (GRCm39)	I161V	probably benign	Het
Hira	A	G	16: 18,770,025 (GRCm39)	T777A	probably benign	Het
Il2ra	T	C	2: 11,689,203 (GRCm39)	F244S	possibly damaging	Het
Kcne3	A	G	7: 99,833,385 (GRCm39)	M1V	probably null	Het
Kcnj1	G	A	9: 32,308,203 (GRCm39)	C209Y	probably damaging	Het
Kcnj2	A	T	11: 110,963,357 (GRCm39)	I250F	probably damaging	Het
Krt26	C	T	11: 99,228,741 (GRCm39)		probably benign	Het
Leng9	T	C	7: 4,151,354 (GRCm39)	T441A	probably benign	Het
Lingo2	T	C	4: 35,709,035 (GRCm39)	H315R	probably benign	Het
Lrrc7	A	T	3: 157,908,023 (GRCm39)	S266T	possibly damaging	Het
Mab21l4	A	C	1: 93,087,710 (GRCm39)	L48V	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mrc1	T	C	2: 14,234,358 (GRCm39)	V12A	probably benign	Het
Mta1	G	T	12: 113,094,987 (GRCm39)	R415L	probably damaging	Het
Mug2	T	A	6: 122,017,700 (GRCm39)	V479E	probably benign	Het
Mylk3	C	A	8: 86,091,444 (GRCm39)	M120I	possibly damaging	Het
Or13c7c	C	T	4: 43,835,879 (GRCm39)	V204M	probably benign	Het
Or2v2	G	T	11: 49,004,484 (GRCm39)	P23Q	probably benign	Het
Otog	A	T	7: 45,938,024 (GRCm39)	Q1911L	probably benign	Het
Pcdh20	C	T	14: 88,705,455 (GRCm39)	C615Y	probably benign	Het
Pde1b	A	G	15: 103,433,464 (GRCm39)	H294R	probably damaging	Het
Phldb3	A	T	7: 24,328,354 (GRCm39)	I633F	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pip5k1b	A	G	19: 24,327,581 (GRCm39)	V425A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rab23	A	T	1: 33,777,424 (GRCm39)	E179D	probably benign	Het
Slc12a6	C	A	2: 112,174,555 (GRCm39)	L522I		Het
Slc22a19	A	T	19: 7,660,210 (GRCm39)	M400K	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spsb2	C	A	6: 124,786,282 (GRCm39)	A5D	probably damaging	Het
Tgfb1	A	G	7: 25,391,952 (GRCm39)	E169G	probably damaging	Het
Tm4sf5	T	A	11: 70,401,134 (GRCm39)	C117S	probably damaging	Het
Tmcc3	T	C	10: 94,415,087 (GRCm39)	L294P	possibly damaging	Het
Ubc	T	C	5: 125,464,466 (GRCm39)	Y287C	probably damaging	Het
Uroc1	G	T	6: 90,313,880 (GRCm39)	V56F	probably benign	Het
Ush1c	A	T	7: 45,872,292 (GRCm39)	F237I	probably damaging	Het
Xxylt1	A	T	16: 30,826,624 (GRCm39)	Y230*	probably null	Het

Other mutations in Zfp467

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0166:Zfp467	UTSW	6	48,415,615 (GRCm39)	missense	probably benign	0.00
R0234:Zfp467	UTSW	6	48,415,689 (GRCm39)	missense	probably damaging	1.00
R0234:Zfp467	UTSW	6	48,415,689 (GRCm39)	missense	probably damaging	1.00
R1509:Zfp467	UTSW	6	48,415,621 (GRCm39)	missense	possibly damaging	0.95
R1517:Zfp467	UTSW	6	48,415,170 (GRCm39)	missense	probably damaging	1.00
R1656:Zfp467	UTSW	6	48,416,013 (GRCm39)	missense	possibly damaging	0.87
R2131:Zfp467	UTSW	6	48,419,595 (GRCm39)	missense	probably damaging	0.98
R2912:Zfp467	UTSW	6	48,416,010 (GRCm39)	missense	possibly damaging	0.95
R4696:Zfp467	UTSW	6	48,416,291 (GRCm39)	unclassified	probably benign
R4714:Zfp467	UTSW	6	48,404,751 (GRCm39)	missense	unknown
R4993:Zfp467	UTSW	6	48,415,963 (GRCm39)	missense	probably damaging	1.00
R7038:Zfp467	UTSW	6	48,415,072 (GRCm39)	missense	probably damaging	1.00
R7224:Zfp467	UTSW	6	48,421,903 (GRCm39)	critical splice donor site	probably null
R7855:Zfp467	UTSW	6	48,416,115 (GRCm39)	missense	probably damaging	0.99
R8073:Zfp467	UTSW	6	48,414,959 (GRCm39)	missense	probably damaging	0.99
R8093:Zfp467	UTSW	6	48,420,366 (GRCm39)	missense	possibly damaging	0.95
R8139:Zfp467	UTSW	6	48,416,268 (GRCm39)	missense	probably damaging	1.00
R8920:Zfp467	UTSW	6	48,415,414 (GRCm39)	missense	probably benign	0.06
R9608:Zfp467	UTSW	6	48,404,776 (GRCm39)	missense	unknown
R9656:Zfp467	UTSW	6	48,419,603 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GATCAGATGCGTCTTCTTGCG -3'
(R):5'- GATCCCTGAGAAGCCTTATGG -3'

Sequencing Primer
(F):5'- CAGATGCGTCTTCTTGCGGAAAC -3'
(R):5'- CCTTATGGCTGCGAGGAATGC -3'

Posted On

2022-05-16