Mutagenetix > Incidental Mutation

Incidental Mutation 'R4470:Zfp148'

329393

Institutional Source

Beutler Lab

Gene Symbol

Zfp148

Ensembl Gene

ENSMUSG00000022811

Gene Name

zinc finger protein 148

Synonyms

2210405J08Rik, ZBP-89, BFCOL1, BERF-1, beta enolase repressor factor 1

MMRRC Submission

041727-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33201145-33324273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33316602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 383 (Y383H)

Ref Sequence

ENSEMBL: ENSMUSP00000156030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089677] [ENSMUST00000165418] [ENSMUST00000232023]

AlphaFold

Q61624

Predicted Effect

probably damaging
Transcript: ENSMUST00000089677
AA Change: Y425H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087106
Gene: ENSMUSG00000022811
AA Change: Y425H

Domain	Start	End	E-Value	Type
low complexity region	141	149	N/A	INTRINSIC
ZnF_C2H2	171	193	4.4e-2	SMART
ZnF_C2H2	199	221	2.09e-3	SMART
ZnF_C2H2	227	249	2.24e-3	SMART
ZnF_C2H2	255	278	4.57e0	SMART
low complexity region	314	323	N/A	INTRINSIC
low complexity region	328	344	N/A	INTRINSIC
low complexity region	589	596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165418
AA Change: Y425H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126338
Gene: ENSMUSG00000022811
AA Change: Y425H

Domain	Start	End	E-Value	Type
low complexity region	141	149	N/A	INTRINSIC
ZnF_C2H2	171	193	4.4e-2	SMART
ZnF_C2H2	199	221	2.09e-3	SMART
ZnF_C2H2	227	249	2.24e-3	SMART
ZnF_C2H2	255	278	4.57e0	SMART
low complexity region	314	323	N/A	INTRINSIC
low complexity region	328	344	N/A	INTRINSIC
low complexity region	589	596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000232023
AA Change: Y383H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.2043

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (56/56)

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 member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]
PHENOTYPE: Disruption of one allele results in haploinsufficient male infertility in which chimeric males display a loss of germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	C	16: 85,595,404 (GRCm39)	V258G	possibly damaging	Het
Adcy1	A	G	11: 7,094,804 (GRCm39)	T577A	probably benign	Het
Adgb	T	C	10: 10,274,695 (GRCm39)	N728S	probably benign	Het
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Atp13a1	T	C	8: 70,251,329 (GRCm39)	S495P	probably damaging	Het
Camta2	T	C	11: 70,571,766 (GRCm39)	D510G	probably damaging	Het
Cdh8	T	A	8: 100,143,321 (GRCm39)		probably benign	Het
Cul9	C	T	17: 46,849,262 (GRCm39)	A628T	probably benign	Het
Ddx19a	A	G	8: 111,703,111 (GRCm39)	V442A	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dnah7c	T	A	1: 46,787,795 (GRCm39)	S3283T	possibly damaging	Het
Fmo9	T	A	1: 166,507,799 (GRCm39)	I19F	probably damaging	Het
Gmeb2	A	T	2: 180,906,938 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,219,035 (GRCm39)	R23C	probably benign	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Il16	A	G	7: 83,300,046 (GRCm39)		probably benign	Het
Kcnj3	A	T	2: 55,327,877 (GRCm39)	H222L	probably damaging	Het
Lama4	T	A	10: 38,956,492 (GRCm39)	Y1138*	probably null	Het
Lpin3	A	G	2: 160,737,354 (GRCm39)	T134A	probably benign	Het
Man1b1	C	G	2: 25,222,867 (GRCm39)		probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mylk	A	G	16: 34,732,522 (GRCm39)	K601E	probably benign	Het
Myzap	A	G	9: 71,499,563 (GRCm39)		probably benign	Het
Ncor2	A	T	5: 125,179,705 (GRCm39)		probably null	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or1j16	T	C	2: 36,530,233 (GRCm39)	F61L	probably damaging	Het
Or4c114	T	C	2: 88,905,382 (GRCm39)	N18D	probably benign	Het
Or4d6	T	C	19: 12,086,547 (GRCm39)		probably null	Het
Or51b4	G	A	7: 103,530,956 (GRCm39)	P165S	probably benign	Het
Or6c202	G	A	10: 128,996,383 (GRCm39)	L157F	probably benign	Het
Or8c13	A	G	9: 38,091,666 (GRCm39)	M151T	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Pramel5	T	C	4: 143,997,915 (GRCm39)	K443E	possibly damaging	Het
Rock2	C	T	12: 17,021,276 (GRCm39)	Q1019*	probably null	Het
Rps18-ps3	T	A	8: 107,989,762 (GRCm39)		noncoding transcript	Het
Sis	T	C	3: 72,835,492 (GRCm39)		probably null	Het
Slc22a21	T	A	11: 53,846,839 (GRCm39)	I345F	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Taf1c	T	C	8: 120,326,361 (GRCm39)	K526R	probably benign	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tbx4	A	G	11: 85,802,948 (GRCm39)	I275V	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmem9	A	G	1: 135,955,234 (GRCm39)	T123A	probably benign	Het
Trim69	A	G	2: 122,009,080 (GRCm39)	Y380C	probably damaging	Het
Vldlr	G	T	19: 27,212,219 (GRCm39)	V78L	probably damaging	Het
Vmn1r68	A	T	7: 10,261,275 (GRCm39)	N274K	probably benign	Het
Vmn2r104	G	T	17: 20,262,503 (GRCm39)	S209Y	probably damaging	Het
Vmn2r108	T	A	17: 20,682,990 (GRCm39)	N738I	probably damaging	Het
Wnt3	A	G	11: 103,703,450 (GRCm39)	D311G	probably damaging	Het
Yme1l1	T	C	2: 23,076,344 (GRCm39)		probably null	Het
Zcchc14	C	T	8: 122,378,498 (GRCm39)		probably benign	Het
Zfp41	A	G	15: 75,490,368 (GRCm39)	R107G	probably damaging	Het

Other mutations in Zfp148

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Zfp148	APN	16	33,277,313 (GRCm39)	missense	probably benign
IGL02059:Zfp148	APN	16	33,316,933 (GRCm39)	missense	probably damaging	1.00
IGL02389:Zfp148	APN	16	33,315,816 (GRCm39)	missense	probably damaging	1.00
ANU22:Zfp148	UTSW	16	33,277,313 (GRCm39)	missense	probably benign
R0680:Zfp148	UTSW	16	33,316,174 (GRCm39)	missense	possibly damaging	0.74
R1455:Zfp148	UTSW	16	33,315,835 (GRCm39)	critical splice donor site	probably null
R2175:Zfp148	UTSW	16	33,317,116 (GRCm39)	nonsense	probably null
R2497:Zfp148	UTSW	16	33,316,755 (GRCm39)	missense	probably damaging	1.00
R4229:Zfp148	UTSW	16	33,255,133 (GRCm39)	missense	probably benign	0.00
R4687:Zfp148	UTSW	16	33,317,189 (GRCm39)	missense	probably damaging	1.00
R4693:Zfp148	UTSW	16	33,288,505 (GRCm39)	missense	probably damaging	1.00
R4701:Zfp148	UTSW	16	33,277,278 (GRCm39)	missense	probably benign	0.00
R5272:Zfp148	UTSW	16	33,316,594 (GRCm39)	missense	probably damaging	0.99
R5479:Zfp148	UTSW	16	33,317,589 (GRCm39)	missense	probably damaging	0.99
R5511:Zfp148	UTSW	16	33,255,004 (GRCm39)	start gained	probably benign
R5679:Zfp148	UTSW	16	33,316,156 (GRCm39)	missense	probably damaging	1.00
R5798:Zfp148	UTSW	16	33,316,513 (GRCm39)	missense	probably benign	0.03
R6142:Zfp148	UTSW	16	33,315,829 (GRCm39)	missense	possibly damaging	0.63
R6368:Zfp148	UTSW	16	33,317,568 (GRCm39)	missense	probably damaging	0.99
R6866:Zfp148	UTSW	16	33,288,496 (GRCm39)	missense	probably damaging	1.00
R7347:Zfp148	UTSW	16	33,255,160 (GRCm39)	missense	possibly damaging	0.86
R7419:Zfp148	UTSW	16	33,317,511 (GRCm39)	missense	possibly damaging	0.87
R7709:Zfp148	UTSW	16	33,288,545 (GRCm39)	missense	probably damaging	0.99
R8771:Zfp148	UTSW	16	33,317,656 (GRCm39)	missense	possibly damaging	0.67
R9120:Zfp148	UTSW	16	33,317,596 (GRCm39)	missense	probably benign	0.00
R9528:Zfp148	UTSW	16	33,316,660 (GRCm39)	missense	probably benign	0.27
R9591:Zfp148	UTSW	16	33,315,737 (GRCm39)	missense
Z1177:Zfp148	UTSW	16	33,317,169 (GRCm39)	missense	probably damaging	0.99
Z1177:Zfp148	UTSW	16	33,316,839 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TCTCTACTCGTCGAGCACTAAAG -3'
(R):5'- ACTTGCAGCTTGAAGATACCG -3'

Sequencing Primer
(F):5'- ATGCTGTTGAGATGCCACAC -3'
(R):5'- GAAGATACCGCTTCTTCTTCAGAAAC -3'

Posted On

2015-07-21