Mutagenetix > Incidental Mutation

Incidental Mutation 'R5511:Zfp148'

431255

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

043072-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33201145-33324273 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 33255004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156030 (fasta)

Gene Model

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

AlphaFold

Q61624

Predicted Effect

probably benign
Transcript: ENSMUST00000089677

SMART Domains

Protein: ENSMUSP00000087106
Gene: ENSMUSG00000022811

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 benign
Transcript: ENSMUST00000165418

SMART Domains

Protein: ENSMUSP00000126338
Gene: ENSMUSG00000022811

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

noncoding transcript
Transcript: ENSMUST00000231894

Predicted Effect

probably benign
Transcript: ENSMUST00000232023

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.1%
20x: 90.3%

Validation Efficiency

98% (81/83)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,654,685 (GRCm39)	L173P	probably damaging	Het
Agl	A	T	3: 116,582,209 (GRCm39)	V271D	possibly damaging	Het
Alox15	G	T	11: 70,240,808 (GRCm39)	P191T	probably benign	Het
Apaf1	T	C	10: 90,890,254 (GRCm39)	Y583C	probably damaging	Het
Aqp9	T	A	9: 71,070,375 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,365,848 (GRCm39)	F1113L	possibly damaging	Het
Cap1	A	C	4: 122,756,583 (GRCm39)		probably benign	Het
Car11	T	C	7: 45,349,885 (GRCm39)	W35R	probably damaging	Het
Casc3	T	A	11: 98,701,740 (GRCm39)	Y91*	probably null	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cd22	A	T	7: 30,569,496 (GRCm39)	I540N	probably damaging	Het
Chad	A	T	11: 94,456,072 (GRCm39)	E50V	probably damaging	Het
Chd3	C	G	11: 69,252,301 (GRCm39)	G34R	probably damaging	Het
Col9a1	T	C	1: 24,218,619 (GRCm39)	V77A	unknown	Het
Copg1	G	A	6: 87,889,276 (GRCm39)	V873M	probably damaging	Het
Dnhd1	T	A	7: 105,363,363 (GRCm39)	V3975E	probably damaging	Het
Dock6	A	T	9: 21,728,703 (GRCm39)	V1290D	possibly damaging	Het
Elp2	A	T	18: 24,745,507 (GRCm39)	K150*	probably null	Het
Eri3	A	C	4: 117,472,386 (GRCm39)	Y260S	possibly damaging	Het
Esrrg	C	T	1: 187,943,304 (GRCm39)	L426F	probably damaging	Het
Farp1	G	T	14: 121,474,584 (GRCm39)	V266L	probably damaging	Het
Flnc	A	G	6: 29,458,897 (GRCm39)	E2459G	probably damaging	Het
Glis1	G	A	4: 107,293,074 (GRCm39)	D66N	probably damaging	Het
Gm14129	T	A	2: 148,773,446 (GRCm39)		noncoding transcript	Het
Gm28051	A	G	12: 102,686,415 (GRCm39)	*82R	probably null	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Gne	C	T	4: 44,041,843 (GRCm39)	V485M	probably damaging	Het
Lcn10	T	A	2: 25,572,841 (GRCm39)	V15E	probably benign	Het
Mapk11	T	A	15: 89,029,380 (GRCm39)		probably null	Het
Me3	T	G	7: 89,455,876 (GRCm39)	Y243D	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Myo1h	T	A	5: 114,483,958 (GRCm39)	L519*	probably null	Het
Myo9a	T	C	9: 59,687,495 (GRCm39)	V200A	probably damaging	Het
Mzf1	T	A	7: 12,785,526 (GRCm39)	Q161H	possibly damaging	Het
Nim1k	T	G	13: 120,189,130 (GRCm39)	H93P	probably damaging	Het
Nkx6-1	C	A	5: 101,811,532 (GRCm39)	R190L	probably damaging	Het
Noc3l	A	G	19: 38,782,625 (GRCm39)	V671A	probably benign	Het
Nsd1	T	C	13: 55,460,543 (GRCm39)	S2257P	probably benign	Het
Nup210	T	A	6: 91,003,945 (GRCm39)	I648F	probably damaging	Het
Oplah	T	C	15: 76,189,944 (GRCm39)	E223G	possibly damaging	Het
Or5b120	T	C	19: 13,480,556 (GRCm39)	M283T	probably benign	Het
Plekhs1	A	C	19: 56,474,224 (GRCm39)	T457P	probably damaging	Het
Plppr4	G	A	3: 117,119,551 (GRCm39)	T286I	probably benign	Het
Prpf4b	T	C	13: 35,068,037 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,878 (GRCm39)	D318E	possibly damaging	Het
Psap	A	G	10: 60,134,959 (GRCm39)	E289G	possibly damaging	Het
Rad17	A	G	13: 100,764,157 (GRCm39)	V438A	possibly damaging	Het
Raf1	T	C	6: 115,597,217 (GRCm39)	S28G	probably benign	Het
Ranbp2	A	G	10: 58,329,561 (GRCm39)	D2978G	probably benign	Het
Rnf170	T	A	8: 26,631,027 (GRCm39)	D213E	probably damaging	Het
Rsph3a	T	A	17: 8,164,905 (GRCm39)	H88Q	possibly damaging	Het
Scd1	A	G	19: 44,395,198 (GRCm39)	I9T	probably benign	Het
Sgk3	T	C	1: 9,968,911 (GRCm39)		probably benign	Het
Slc14a1	C	T	18: 78,145,686 (GRCm39)	S416N	probably benign	Het
Smok4a	T	C	17: 13,746,474 (GRCm39)		noncoding transcript	Het
Sostdc1	A	T	12: 36,367,165 (GRCm39)	I114F	probably damaging	Het
Spen	G	A	4: 141,202,375 (GRCm39)	T2084I	possibly damaging	Het
Spen	G	T	4: 141,244,149 (GRCm39)	D295E	unknown	Het
Sptbn5	T	C	2: 119,890,202 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,101,184 (GRCm39)		probably benign	Het
Tcea3	A	T	4: 135,998,683 (GRCm39)	Y319F	probably damaging	Het
Timd4	T	A	11: 46,710,807 (GRCm39)		probably null	Het
Tmem88b	G	A	4: 155,870,002 (GRCm39)	P20S	probably damaging	Het
Tsen2	T	A	6: 115,538,365 (GRCm39)	C281S	probably damaging	Het
Vmn2r28	T	C	7: 5,487,011 (GRCm39)	T551A	possibly damaging	Het
Vmn2r45	T	C	7: 8,474,832 (GRCm39)	H732R	probably benign	Het
Wdr90	A	G	17: 26,063,995 (GRCm39)		probably benign	Het
Zdbf2	T	C	1: 63,344,836 (GRCm39)	S1072P	probably benign	Het
Zfp2	T	A	11: 50,790,851 (GRCm39)	E397D	probably damaging	Het
Zfp729b	A	G	13: 67,740,499 (GRCm39)	F599L	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
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
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

Posted On

2016-10-05