Mutagenetix > Incidental Mutation

Incidental Mutation 'R2497:Zfp148'

251116

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

040411-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2497 (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 33316755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 434 (Y434H)

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: Y476H

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

SMART Domains

Protein: ENSMUSP00000087106
Gene: ENSMUSG00000022811
AA Change: Y476H

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: Y476H

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

SMART Domains

Protein: ENSMUSP00000126338
Gene: ENSMUSG00000022811
AA Change: Y476H

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: Y434H

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

Meta Mutation Damage Score

0.4428

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (60/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,251,612 (GRCm38)	V295A	probably benign	Het
Agrn	T	C	4: 156,258,268 (GRCm39)	E959G	probably benign	Het
Aqp5	T	C	15: 99,489,180 (GRCm39)	F10L	possibly damaging	Het
Arhgap39	C	A	15: 76,609,585 (GRCm39)	V1025L	probably damaging	Het
Atg4d	C	T	9: 21,184,682 (GRCm39)	R459*	probably null	Het
Atp11b	A	G	3: 35,909,294 (GRCm39)	S1163G	probably damaging	Het
Atp13a5	G	T	16: 29,157,889 (GRCm39)	S173*	probably null	Het
Atp6v1g2	T	A	17: 35,455,762 (GRCm39)	I8N	probably damaging	Het
Ccdc77	C	T	6: 120,302,433 (GRCm39)	G430R	possibly damaging	Het
Cdc34b	A	G	11: 94,633,207 (GRCm39)	T136A	probably benign	Het
Cdkal1	A	G	13: 29,658,524 (GRCm39)	S23P	unknown	Het
Cdkl2	T	A	5: 92,156,857 (GRCm39)	H566L	probably benign	Het
Cers6	T	C	2: 68,901,790 (GRCm39)		probably benign	Het
Cfap251	T	C	5: 123,421,432 (GRCm39)	V98A	probably damaging	Het
Clspn	A	G	4: 126,466,140 (GRCm39)	T557A	possibly damaging	Het
Cmya5	T	C	13: 93,234,513 (GRCm39)	T192A	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah17	T	G	11: 117,977,850 (GRCm39)		probably null	Het
Dnah8	C	T	17: 30,960,339 (GRCm39)	Q2239*	probably null	Het
Dscaml1	T	C	9: 45,656,376 (GRCm39)	V1572A	probably benign	Het
Elfn2	C	G	15: 78,558,464 (GRCm39)	E28Q	probably damaging	Het
Enam	T	A	5: 88,650,553 (GRCm39)	N687K	probably benign	Het
Flywch1	G	A	17: 23,974,685 (GRCm39)	R652W	probably benign	Het
Gm5612	T	C	9: 18,338,975 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Mmp3	A	G	9: 7,450,131 (GRCm39)	T288A	probably benign	Het
Mtmr4	T	A	11: 87,491,649 (GRCm39)	F168L	probably damaging	Het
Mtres1	T	C	10: 43,401,263 (GRCm39)		probably benign	Het
Myo1d	T	A	11: 80,565,647 (GRCm39)	N393Y	probably damaging	Het
Nacc2	A	T	2: 25,979,580 (GRCm39)	Y285*	probably null	Het
Nf1	G	T	11: 79,334,710 (GRCm39)	G844V	probably damaging	Het
Nox4	T	A	7: 86,945,084 (GRCm39)	Y113*	probably null	Het
Pcdha3	T	C	18: 37,080,556 (GRCm39)	C433R	probably benign	Het
Pde6c	A	G	19: 38,142,142 (GRCm39)	I358V	probably damaging	Het
Pdgfrb	A	T	18: 61,211,700 (GRCm39)	D819V	possibly damaging	Het
Phf3	C	A	1: 30,869,095 (GRCm39)	R651L	probably damaging	Het
Prrx1	A	G	1: 163,075,834 (GRCm39)	V244A	possibly damaging	Het
Ptges	C	T	2: 30,782,722 (GRCm39)	G110D	possibly damaging	Het
Rab27a	T	C	9: 72,992,263 (GRCm39)	L97P	probably damaging	Het
Rnf20	G	A	4: 49,652,676 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,447,958 (GRCm39)	N259S	probably benign	Het
Serpinb9d	T	C	13: 33,380,500 (GRCm39)	S129P	probably damaging	Het
Slc1a4	T	C	11: 20,282,620 (GRCm39)		probably benign	Het
Smyd2	T	A	1: 189,617,534 (GRCm39)	N300I	possibly damaging	Het
Snd1	A	G	6: 28,888,078 (GRCm39)	I875V	probably benign	Het
Ssh1	T	C	5: 114,096,919 (GRCm39)	N174S	probably damaging	Het
Stimate	C	T	14: 30,594,537 (GRCm39)	L217F	probably damaging	Het
Tanc2	T	C	11: 105,564,319 (GRCm39)		probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tpcn1	C	T	5: 120,677,063 (GRCm39)		probably null	Het
Unc45b	A	T	11: 82,827,269 (GRCm39)	I699F	probably damaging	Het
Uspl1	C	T	5: 149,124,664 (GRCm39)	P27L	probably damaging	Het
Ylpm1	C	G	12: 85,043,535 (GRCm39)	P91R	probably damaging	Het
Zdhhc23	G	A	16: 43,794,278 (GRCm39)	T132M	probably damaging	Het
Zhx2	T	C	15: 57,686,551 (GRCm39)	V640A	possibly 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
R4229:Zfp148	UTSW	16	33,255,133 (GRCm39)	missense	probably benign	0.00
R4470:Zfp148	UTSW	16	33,316,602 (GRCm39)	missense	probably damaging	0.98
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'- CCCTTGGAGCAAAGTCAAAC -3'
(R):5'- GCAGGACCTCATCTGGGATAAC -3'

Sequencing Primer
(F):5'- TCCAGCTATGAAGACAGCAAAGTTTC -3'
(R):5'- GGACCTCATCTGGGATAACATTTTTG -3'

Posted On

2014-12-04