Mutagenetix > Incidental Mutation

Incidental Mutation 'R4687:Zfp148'

353791

Institutional Source

Beutler Lab

Gene Symbol

Zfp148

Ensembl Gene

ENSMUSG00000022811

Gene Name

zinc finger protein 148

Synonyms

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

MMRRC Submission

041938-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33380836-33504363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33496819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 578 (D578E)

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: D620E

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

SMART Domains

Protein: ENSMUSP00000087106
Gene: ENSMUSG00000022811
AA Change: D620E

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: D620E

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

SMART Domains

Protein: ENSMUSP00000126338
Gene: ENSMUSG00000022811
AA Change: D620E

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: D578E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 8,992,153 (GRCm38)	Y45N	probably damaging	Het
Agbl3	T	C	6: 34,798,326 (GRCm38)	V189A	probably damaging	Het
Akip1	C	A	7: 109,704,986 (GRCm38)	S90*	probably null	Het
Amn	A	T	12: 111,276,068 (GRCm38)	D439V	probably benign	Het
Arhgap17	T	A	7: 123,321,603 (GRCm38)	D149V	probably damaging	Het
Atp6v0a4	A	T	6: 38,092,465 (GRCm38)	I76N	possibly damaging	Het
Atp6v1h	A	T	1: 5,133,085 (GRCm38)	N291I	probably damaging	Het
Baiap2l2	G	T	15: 79,259,253 (GRCm38)	P462T	probably damaging	Het
Bves	C	T	10: 45,354,840 (GRCm38)		probably null	Het
Cabp7	T	A	11: 4,739,265 (GRCm38)	K127*	probably null	Het
Cacna1h	A	G	17: 25,393,910 (GRCm38)	V313A	possibly damaging	Het
Camkk2	T	C	5: 122,753,724 (GRCm38)	H245R	probably damaging	Het
Celsr1	T	A	15: 85,932,460 (GRCm38)	S1761C	possibly damaging	Het
Cfap46	T	C	7: 139,627,456 (GRCm38)	E1849G	possibly damaging	Het
Ciz1	T	C	2: 32,367,465 (GRCm38)	L174P	probably damaging	Het
Crim1	G	T	17: 78,303,025 (GRCm38)	C303F	probably damaging	Het
Cyp26c1	A	G	19: 37,692,937 (GRCm38)	Q396R	probably damaging	Het
Dnajc7	G	A	11: 100,599,300 (GRCm38)	P43L	probably damaging	Het
Dpf2	T	C	19: 5,907,012 (GRCm38)	H16R	probably damaging	Het
Dsp	A	G	13: 38,191,619 (GRCm38)	T1127A	probably damaging	Het
Dst	T	C	1: 34,201,123 (GRCm38)	L1525P	probably damaging	Het
Ehf	T	A	2: 103,267,126 (GRCm38)	D192V	probably damaging	Het
Frem1	G	T	4: 83,020,631 (GRCm38)	N71K	probably damaging	Het
Furin	T	A	7: 80,393,447 (GRCm38)	T339S	probably benign	Het
Gad1	T	A	2: 70,600,720 (GRCm38)	I569N	possibly damaging	Het
Gfi1	T	C	5: 107,723,810 (GRCm38)	K10R	probably damaging	Het
Gm20775	T	A	Y: 10,641,258 (GRCm38)		noncoding transcript	Homo
Gpn3	A	C	5: 122,378,575 (GRCm38)	D89A	possibly damaging	Het
Gpr18	T	A	14: 121,911,678 (GRCm38)	R312*	probably null	Het
Gsap	T	C	5: 21,246,971 (GRCm38)		probably benign	Het
H2-Ab1	C	A	17: 34,264,809 (GRCm38)	T48K	probably damaging	Het
Hmcn2	A	T	2: 31,438,285 (GRCm38)	N4326I	probably benign	Het
Igkv4-51	A	C	6: 69,681,730 (GRCm38)		probably benign	Het
Insr	T	C	8: 3,161,709 (GRCm38)	H1104R	probably benign	Het
Ipo13	A	T	4: 117,901,576 (GRCm38)	N697K	probably benign	Het
Iqcm	T	G	8: 75,762,989 (GRCm38)	F362V	probably damaging	Het
Irak4	T	C	15: 94,566,823 (GRCm38)	S425P	probably damaging	Het
Jakmip2	T	C	18: 43,577,412 (GRCm38)	E242G	possibly damaging	Het
Kdm4a	T	C	4: 118,144,083 (GRCm38)	K829R	probably damaging	Het
Kdr	T	C	5: 75,968,792 (GRCm38)	N145S	possibly damaging	Het
Klra9	A	T	6: 130,185,517 (GRCm38)	D185E	probably benign	Het
Lcn12	T	C	2: 25,493,321 (GRCm38)	N15S	probably benign	Het
Mei4	T	A	9: 81,927,317 (GRCm38)	M151K	probably damaging	Het
Mmp3	T	A	9: 7,451,223 (GRCm38)	S320T	probably benign	Het
Mrps5	C	G	2: 127,590,770 (GRCm38)	A37G	probably benign	Het
Mttp	A	G	3: 138,092,735 (GRCm38)	I800T	possibly damaging	Het
Nags	A	T	11: 102,148,196 (GRCm38)	Q451L	probably damaging	Het
Nbea	T	C	3: 56,058,065 (GRCm38)	T476A	probably damaging	Het
Ndufb10	T	C	17: 24,722,419 (GRCm38)	E145G	possibly damaging	Het
Neb	T	G	2: 52,304,035 (GRCm38)	S660R	possibly damaging	Het
Nppb	A	G	4: 147,986,296 (GRCm38)	K43E	probably benign	Het
Nup188	A	T	2: 30,330,633 (GRCm38)	Q906L	probably benign	Het
Or10k2	T	A	8: 83,541,860 (GRCm38)	S239T	probably damaging	Het
Or4c12	T	C	2: 89,943,869 (GRCm38)	D82G	probably damaging	Het
Or8c17	C	A	9: 38,269,414 (GRCm38)	N292K	probably damaging	Het
Or9s23	T	C	1: 92,573,330 (GRCm38)	I53T	possibly damaging	Het
Ovch2	T	A	7: 107,796,548 (GRCm38)	I88F	possibly damaging	Het
Palm3	A	G	8: 84,029,935 (GRCm38)	E692G	probably benign	Het
Pcsk6	T	C	7: 65,983,753 (GRCm38)	F578L	probably damaging	Het
Piezo2	A	C	18: 63,069,963 (GRCm38)	D1535E	probably damaging	Het
Ppp1r15b	T	C	1: 133,132,135 (GRCm38)	V130A	probably benign	Het
Proca1	T	C	11: 78,204,898 (GRCm38)	Y32H	probably damaging	Het
Prtg	T	A	9: 72,890,798 (GRCm38)	V682E	probably damaging	Het
Pyroxd1	A	T	6: 142,361,868 (GRCm38)	M455L	probably benign	Het
Rasa1	T	C	13: 85,226,635 (GRCm38)	D739G	possibly damaging	Het
Scn3a	T	C	2: 65,464,730 (GRCm38)	I1550V	possibly damaging	Het
Sepsecs	T	C	5: 52,643,871 (GRCm38)	D483G	probably benign	Het
Setd7	T	C	3: 51,550,355 (GRCm38)	D17G	probably damaging	Het
Sipa1l2	C	T	8: 125,491,245 (GRCm38)	C451Y	probably damaging	Het
Slc31a1	A	G	4: 62,388,702 (GRCm38)	Y165C	probably damaging	Het
Smg5	T	C	3: 88,342,469 (GRCm38)	F68L	possibly damaging	Het
Sptbn5	A	G	2: 120,077,208 (GRCm38)		probably benign	Het
Stk3	A	G	15: 35,114,565 (GRCm38)	I65T	probably damaging	Het
Tas2r115	C	T	6: 132,737,284 (GRCm38)	A235T	possibly damaging	Het
Tenm2	C	T	11: 36,049,097 (GRCm38)	A1400T	probably benign	Het
Tet1	T	A	10: 62,838,791 (GRCm38)	N1169Y	probably benign	Het
Treml2	T	A	17: 48,309,397 (GRCm38)		probably null	Het
Tspan11	A	G	6: 127,938,235 (GRCm38)	E104G	probably damaging	Het
Wdtc1	G	A	4: 133,296,431 (GRCm38)	A543V	probably damaging	Het
Zfp735	A	T	11: 73,711,856 (GRCm38)	N542I	probably damaging	Het
Zfp735	A	T	11: 73,711,855 (GRCm38)	N542Y	probably damaging	Het
Zfp869	T	A	8: 69,708,143 (GRCm38)	E65D	probably benign	Het

Other mutations in Zfp148

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Zfp148	APN	16	33,456,943 (GRCm38)	missense	probably benign
IGL02059:Zfp148	APN	16	33,496,563 (GRCm38)	missense	probably damaging	1.00
IGL02389:Zfp148	APN	16	33,495,446 (GRCm38)	missense	probably damaging	1.00
ANU22:Zfp148	UTSW	16	33,456,943 (GRCm38)	missense	probably benign
R0680:Zfp148	UTSW	16	33,495,804 (GRCm38)	missense	possibly damaging	0.74
R1455:Zfp148	UTSW	16	33,495,465 (GRCm38)	critical splice donor site	probably null
R2175:Zfp148	UTSW	16	33,496,746 (GRCm38)	nonsense	probably null
R2497:Zfp148	UTSW	16	33,496,385 (GRCm38)	missense	probably damaging	1.00
R4229:Zfp148	UTSW	16	33,434,763 (GRCm38)	missense	probably benign	0.00
R4470:Zfp148	UTSW	16	33,496,232 (GRCm38)	missense	probably damaging	0.98
R4693:Zfp148	UTSW	16	33,468,135 (GRCm38)	missense	probably damaging	1.00
R4701:Zfp148	UTSW	16	33,456,908 (GRCm38)	missense	probably benign	0.00
R5272:Zfp148	UTSW	16	33,496,224 (GRCm38)	missense	probably damaging	0.99
R5479:Zfp148	UTSW	16	33,497,219 (GRCm38)	missense	probably damaging	0.99
R5511:Zfp148	UTSW	16	33,434,634 (GRCm38)	start gained	probably benign
R5679:Zfp148	UTSW	16	33,495,786 (GRCm38)	missense	probably damaging	1.00
R5798:Zfp148	UTSW	16	33,496,143 (GRCm38)	missense	probably benign	0.03
R6142:Zfp148	UTSW	16	33,495,459 (GRCm38)	missense	possibly damaging	0.63
R6368:Zfp148	UTSW	16	33,497,198 (GRCm38)	missense	probably damaging	0.99
R6866:Zfp148	UTSW	16	33,468,126 (GRCm38)	missense	probably damaging	1.00
R7347:Zfp148	UTSW	16	33,434,790 (GRCm38)	missense	possibly damaging	0.86
R7419:Zfp148	UTSW	16	33,497,141 (GRCm38)	missense	possibly damaging	0.87
R7709:Zfp148	UTSW	16	33,468,175 (GRCm38)	missense	probably damaging	0.99
R8771:Zfp148	UTSW	16	33,497,286 (GRCm38)	missense	possibly damaging	0.67
R9120:Zfp148	UTSW	16	33,497,226 (GRCm38)	missense	probably benign	0.00
R9528:Zfp148	UTSW	16	33,496,290 (GRCm38)	missense	probably benign	0.27
R9591:Zfp148	UTSW	16	33,495,367 (GRCm38)	missense
Z1177:Zfp148	UTSW	16	33,496,799 (GRCm38)	missense	probably damaging	0.99
Z1177:Zfp148	UTSW	16	33,496,469 (GRCm38)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TTCAGCGTTGCAGATACTGAAG -3'
(R):5'- CTCGTCACCTGAAAAGGGAAAC -3'

Sequencing Primer
(F):5'- CGTTGCAGATACTGAAGTGACTTC -3'
(R):5'- GTCACCGACTATTAGTCCAAAGTGG -3'

Posted On

2015-10-21