Mutagenetix > Incidental Mutation

Incidental Mutation 'R7709:Zfp148'

594504

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

045768-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33201145-33324273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33288545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 220 (I220N)

Ref Sequence

ENSEMBL: ENSMUSP00000087106 (fasta)

Gene Model

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

AlphaFold

Q61624

Predicted Effect

probably damaging
Transcript: ENSMUST00000089677
AA Change: I220N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087106
Gene: ENSMUSG00000022811
AA Change: I220N

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: I220N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126338
Gene: ENSMUSG00000022811
AA Change: I220N

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: I178N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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 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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,201,334 (GRCm39)	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,861,091 (GRCm39)	C170R	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,478,237 (GRCm39)		probably null	Het
A2m	A	C	6: 121,637,063 (GRCm39)	T809P	possibly damaging	Het
Abca12	T	C	1: 71,374,887 (GRCm39)	D340G	probably benign	Het
Abcg8	A	T	17: 84,999,919 (GRCm39)	D191V	probably damaging	Het
Acan	G	T	7: 78,739,356 (GRCm39)	V255F	probably damaging	Het
Ace	G	A	11: 105,879,663 (GRCm39)	V1248I	probably benign	Het
Adgre1	A	T	17: 57,709,519 (GRCm39)	Q87L	unknown	Het
Adgrl1	G	A	8: 84,665,617 (GRCm39)	V1435M	probably benign	Het
Ano8	T	C	8: 71,934,933 (GRCm39)	D423G	probably damaging	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,295,068 (GRCm39)	D114G	probably benign	Het
B3galt9	T	G	2: 34,728,437 (GRCm39)	C79G	probably damaging	Het
Baiap2l2	G	T	15: 79,143,911 (GRCm39)	N394K	probably benign	Het
Cap1	A	T	4: 122,756,467 (GRCm39)	C355S	probably damaging	Het
Ccdc25	A	T	14: 66,077,933 (GRCm39)	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,238,076 (GRCm39)	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,149,974 (GRCm39)		probably benign	Het
CN725425	C	A	15: 91,124,930 (GRCm39)	R157S	probably benign	Het
Coq8b	T	C	7: 26,949,962 (GRCm39)	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,591,789 (GRCm39)	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,258,612 (GRCm39)	V83A	possibly damaging	Het
Daam1	G	A	12: 72,024,423 (GRCm39)	R797H	probably benign	Het
Dab1	C	A	4: 104,577,756 (GRCm39)	S275*	probably null	Het
Dgkz	T	C	2: 91,767,404 (GRCm39)	E863G	probably benign	Het
Dhx34	G	A	7: 15,946,789 (GRCm39)	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,530,049 (GRCm39)		probably null	Het
Dnmt3b	C	A	2: 153,514,140 (GRCm39)	N384K	probably benign	Het
Dock5	A	G	14: 68,033,454 (GRCm39)	Y972H	probably benign	Het
Etv5	A	T	16: 22,231,597 (GRCm39)	Y138*	probably null	Het
Fdps	A	G	3: 89,008,397 (GRCm39)	S4P	probably damaging	Het
Gart	A	G	16: 91,419,853 (GRCm39)	F885L	possibly damaging	Het
Gm32687	A	T	10: 81,715,328 (GRCm39)	H240L	probably damaging	Het
Gm4553	C	T	7: 141,719,384 (GRCm39)	G15R	unknown	Het
Gm572	C	T	4: 148,753,408 (GRCm39)	T351M	probably damaging	Het
Gpr3	A	T	4: 132,937,748 (GRCm39)	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,609,097 (GRCm39)	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,002,096 (GRCm39)	H661R	unknown	Het
Heatr4	A	T	12: 84,004,499 (GRCm39)	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,799,605 (GRCm39)	I163T	possibly damaging	Het
Ift81	C	T	5: 122,747,394 (GRCm39)	V91M	probably damaging	Het
Igsf10	G	T	3: 59,238,964 (GRCm39)	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,171,697 (GRCm39)	V257A	probably benign	Het
Ina	A	T	19: 47,012,082 (GRCm39)	K500I		Het
Lce1i	A	T	3: 92,685,066 (GRCm39)	C37S	unknown	Het
Lrrc59	A	T	11: 94,525,811 (GRCm39)	D133V	probably damaging	Het
Magi3	A	G	3: 103,941,354 (GRCm39)	I867T	probably damaging	Het
Mmaa	T	A	8: 79,995,830 (GRCm39)	R298W	probably damaging	Het
Mon1a	G	T	9: 107,777,327 (GRCm39)	V77F	probably benign	Het
Mrc2	A	G	11: 105,237,285 (GRCm39)	T1030A	probably benign	Het
Mrps27	T	A	13: 99,541,504 (GRCm39)	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Mtus1	A	G	8: 41,507,687 (GRCm39)	I21T	possibly damaging	Het
Myh2	T	C	11: 67,085,690 (GRCm39)	V1844A	probably benign	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Nbr1	T	G	11: 101,447,067 (GRCm39)	F18V	probably damaging	Het
Npy2r	T	C	3: 82,447,689 (GRCm39)	N362S	probably benign	Het
Ocln	T	A	13: 100,676,106 (GRCm39)	Y129F	probably damaging	Het
Or2t1	T	C	14: 14,328,384 (GRCm38)	I91T	probably damaging	Het
Or4c10	T	C	2: 89,760,225 (GRCm39)	I24T	probably benign	Het
Or8c20	A	G	9: 38,260,573 (GRCm39)	M59V	probably benign	Het
Pik3c2b	T	G	1: 133,007,579 (GRCm39)		probably null	Het
Prss39	A	G	1: 34,541,709 (GRCm39)	D262G	probably damaging	Het
Ptk7	T	A	17: 46,882,569 (GRCm39)	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452 (GRCm38)	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,427,339 (GRCm39)	I640T	possibly damaging	Het
Rogdi	A	G	16: 4,827,098 (GRCm39)	Y303H	probably damaging	Het
Rps6kb1	A	T	11: 86,404,148 (GRCm39)	M283K	probably damaging	Het
Sardh	T	A	2: 27,131,529 (GRCm39)	T188S	possibly damaging	Het
Sebox	A	G	11: 78,394,919 (GRCm39)	E87G	probably damaging	Het
Smchd1	A	T	17: 71,665,193 (GRCm39)	M1830K	probably damaging	Het
Spata31h1	A	C	10: 82,126,366 (GRCm39)	S2215A	possibly damaging	Het
Spink8	G	A	9: 109,645,848 (GRCm39)	V7I	probably benign	Het
Src	G	A	2: 157,299,164 (GRCm39)	V54M	probably benign	Het
Taar2	A	G	10: 23,816,621 (GRCm39)	I54V	probably benign	Het
Tpo	A	T	12: 30,181,859 (GRCm39)	V12E	possibly damaging	Het
Txk	T	C	5: 72,864,918 (GRCm39)	D373G	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Vil1	C	T	1: 74,465,754 (GRCm39)	T515M	probably benign	Het
Wdr47	G	T	3: 108,525,837 (GRCm39)	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,059,799 (GRCm39)	P335L	unknown	Het
Zfp992	A	T	4: 146,551,622 (GRCm39)	K448*	probably null	Het
Zfp994	T	C	17: 22,419,406 (GRCm39)	I514M	probably benign	Het
Zp2	A	T	7: 119,734,998 (GRCm39)	I429N	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
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
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'- TCATGTGGTGTTTTAGAATTTCCCC -3'
(R):5'- GCTACTGCTCCTTATAAGTGGG -3'

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

Posted On

2019-11-12