Mutagenetix > Incidental Mutation

Incidental Mutation 'R4693:Zfp148'

355066

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

041944-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33201145-33324273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33288505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 207 (R207C)

Ref Sequence

ENSEMBL: ENSMUSP00000126338 (fasta)

Gene Model

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

AlphaFold

Q61624

Predicted Effect

probably damaging
Transcript: ENSMUST00000089677
AA Change: R207C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087106
Gene: ENSMUSG00000022811
AA Change: R207C

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: R207C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126338
Gene: ENSMUSG00000022811
AA Change: R207C

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: R165C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.7786

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	C	17: 85,004,125 (GRCm39)	Y478H	probably damaging	Het
Adar	A	T	3: 89,643,247 (GRCm39)	H128L	probably damaging	Het
Angptl6	G	T	9: 20,786,598 (GRCm39)	D349E	probably damaging	Het
Anxa9	T	C	3: 95,204,667 (GRCm39)	T286A	probably benign	Het
Apobr	A	G	7: 126,186,019 (GRCm39)	N510S	probably damaging	Het
Atoh7	G	T	10: 62,936,275 (GRCm39)	R114L	probably benign	Het
Bank1	C	G	3: 135,953,437 (GRCm39)	R106P	probably damaging	Het
Best1	C	T	19: 9,974,499 (GRCm39)	G15D	probably damaging	Het
Best2	A	T	8: 85,737,832 (GRCm39)	F188I	probably damaging	Het
Ccdc88a	T	C	11: 29,432,241 (GRCm39)	Y344H	probably damaging	Het
Col6a5	A	G	9: 105,814,371 (GRCm39)	L547P	unknown	Het
Cyp19a1	A	T	9: 54,080,617 (GRCm39)	S247T	possibly damaging	Het
Cyp26a1	T	C	19: 37,686,925 (GRCm39)	S126P	probably benign	Het
Dab1	G	T	4: 104,536,750 (GRCm39)	C180F	probably damaging	Het
Dclk2	T	C	3: 86,722,400 (GRCm39)	D412G	possibly damaging	Het
Dspp	A	T	5: 104,325,928 (GRCm39)	S764C	unknown	Het
Dync1li1	C	A	9: 114,535,166 (GRCm39)	D143E	probably damaging	Het
Esm1	A	T	13: 113,346,594 (GRCm39)	D73V	probably damaging	Het
Etfdh	A	T	3: 79,513,110 (GRCm39)	V431E	probably damaging	Het
Fam83c	C	T	2: 155,672,154 (GRCm39)	R427H	probably damaging	Het
Galnt9	A	G	5: 110,763,375 (GRCm39)	Y93C	probably damaging	Het
Gm6818	G	A	7: 38,100,126 (GRCm39)		noncoding transcript	Het
Gosr2	A	G	11: 103,574,755 (GRCm39)	S114P	probably benign	Het
Grip1	G	A	10: 119,836,459 (GRCm39)	V444I	probably benign	Het
Gvin-ps3	T	G	7: 105,681,585 (GRCm39)		noncoding transcript	Het
Haus4	G	T	14: 54,787,256 (GRCm39)	A67E	probably benign	Het
Hectd2	T	A	19: 36,591,738 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,695 (GRCm39)	Y911H	probably benign	Het
Lim2	T	C	7: 43,080,105 (GRCm39)	Y31H	probably damaging	Het
Lims2	G	A	18: 32,077,552 (GRCm39)	R101H	probably benign	Het
Lrrc2	T	A	9: 110,799,161 (GRCm39)	M236K	probably damaging	Het
Lrrc37	T	A	11: 103,510,686 (GRCm39)	E427D	unknown	Het
Lrrk1	T	C	7: 65,912,235 (GRCm39)	Y1775C	probably damaging	Het
Mdga2	A	G	12: 66,844,407 (GRCm39)	V197A	possibly damaging	Het
Mfhas1	T	A	8: 36,056,329 (GRCm39)	L268Q	probably damaging	Het
Mlh1	A	G	9: 111,084,726 (GRCm39)	I216T	probably damaging	Het
Mrc2	G	A	11: 105,234,528 (GRCm39)	C1016Y	probably benign	Het
Mvp	C	A	7: 126,597,500 (GRCm39)	V168F	probably damaging	Het
Mybphl	A	G	3: 108,282,494 (GRCm39)	T176A	probably benign	Het
Myt1	T	A	2: 181,437,532 (GRCm39)	L81Q	probably damaging	Het
Ncbp3	T	C	11: 72,966,503 (GRCm39)	L453S	probably benign	Het
Or4c1	T	A	2: 89,133,621 (GRCm39)	E105V	probably benign	Het
Or4c114	T	C	2: 88,905,412 (GRCm39)	T8A	possibly damaging	Het
Or55b10	T	A	7: 102,143,659 (GRCm39)	I108F	probably damaging	Het
Or5b125-ps1	C	A	19: 13,056,226 (GRCm39)		noncoding transcript	Het
Or5l14	A	T	2: 87,793,053 (GRCm39)	F61Y	probably benign	Het
Pak4	A	T	7: 28,263,674 (GRCm39)	M354K	probably damaging	Het
Pax3	T	C	1: 78,173,383 (GRCm39)	T2A	probably benign	Het
Pcdh17	A	G	14: 84,770,960 (GRCm39)	D1146G	probably damaging	Het
Pcyt1a	T	C	16: 32,289,042 (GRCm39)		probably benign	Het
Pfkp	C	T	13: 6,650,671 (GRCm39)	G467D	possibly damaging	Het
Plin4	C	A	17: 56,410,762 (GRCm39)	G1090C	probably damaging	Het
Pth1r	A	G	9: 110,560,692 (GRCm39)	V25A	probably damaging	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Ptprf	T	A	4: 118,068,219 (GRCm39)	E1772D	probably benign	Het
Sall2	T	C	14: 52,551,935 (GRCm39)	H420R	probably damaging	Het
Sbds	G	A	5: 130,279,816 (GRCm39)	R63W	probably damaging	Het
Sccpdh	A	G	1: 179,495,975 (GRCm39)	T19A	possibly damaging	Het
Scn8a	A	T	15: 100,913,572 (GRCm39)	D988V	probably damaging	Het
Slamf6	C	T	1: 171,761,680 (GRCm39)	Q34*	probably null	Het
Slc22a6	T	A	19: 8,601,016 (GRCm39)	I403N	probably damaging	Het
Sox5	T	C	6: 143,781,042 (GRCm39)	Y574C	probably damaging	Het
Sptbn5	T	A	2: 119,889,897 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,137,716 (GRCm39)	V1022E	probably damaging	Het
Tbx3	G	A	5: 119,815,635 (GRCm39)	E292K	possibly damaging	Het
Tbx5	A	T	5: 119,979,964 (GRCm39)	H170L	probably damaging	Het
Tcf12	A	T	9: 71,776,249 (GRCm39)		probably benign	Het
Themis	G	A	10: 28,658,647 (GRCm39)	R558H	probably damaging	Het
Tiam1	T	C	16: 89,640,170 (GRCm39)	E849G	possibly damaging	Het
Vav3	A	G	3: 109,470,534 (GRCm39)		probably benign	Het
Vmn2r90	T	A	17: 17,953,956 (GRCm39)	C707S	possibly damaging	Het
Vmn2r96	T	G	17: 18,803,270 (GRCm39)	N201K	probably benign	Het
Zfp648	G	T	1: 154,080,152 (GRCm39)	A104S	probably benign	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
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
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'- TGTGAAACTTTAAATCCCGTGGG -3'
(R):5'- GCTACTGCTCCTTATAAGTGGG -3'

Sequencing Primer
(F):5'- CCCGTGGGAAATTTTTGAGGGAAAG -3'
(R):5'- CTGCTCCTTATAAGTGGGAATGATC -3'

Posted On

2015-10-21