Mutagenetix > Incidental Mutation

Incidental Mutation 'R9485:Zfp131'

716538

Institutional Source

Beutler Lab

Gene Symbol

Zfp131

Ensembl Gene

ENSMUSG00000094870

Gene Name

zinc finger protein 131

Synonyms

2610109I01Rik, Znf131

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R9485 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120226723-120252425 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 120251885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177916] [ENSMUST00000178271] [ENSMUST00000223722] [ENSMUST00000223812] [ENSMUST00000223813] [ENSMUST00000224946]

AlphaFold

Q8K3J5

Predicted Effect

probably benign
Transcript: ENSMUST00000177916

SMART Domains

Protein: ENSMUSP00000136867
Gene: ENSMUSG00000094870

Domain	Start	End	E-Value	Type
BTB	34	129	4.83e-23	SMART
low complexity region	205	216	N/A	INTRINSIC
ZnF_C2H2	261	283	6.23e-2	SMART
ZnF_C2H2	288	311	2.02e-1	SMART
ZnF_C2H2	328	350	4.11e-2	SMART
ZnF_C2H2	356	376	1.09e2	SMART
ZnF_C2H2	392	414	8.47e-4	SMART
ZnF_C2H2	420	443	1.14e0	SMART
low complexity region	532	548	N/A	INTRINSIC
low complexity region	581	593	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178271

SMART Domains

Protein: ENSMUSP00000136019
Gene: ENSMUSG00000094870

Domain	Start	End	E-Value	Type
BTB	34	129	4.83e-23	SMART
low complexity region	205	216	N/A	INTRINSIC
ZnF_C2H2	254	277	2.02e-1	SMART
ZnF_C2H2	294	316	4.11e-2	SMART
ZnF_C2H2	322	342	1.09e2	SMART
ZnF_C2H2	358	380	8.47e-4	SMART
ZnF_C2H2	386	409	1.14e0	SMART
low complexity region	498	514	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223722

Predicted Effect

probably benign
Transcript: ENSMUST00000223812

Predicted Effect

probably benign
Transcript: ENSMUST00000223813

Predicted Effect

probably benign
Transcript: ENSMUST00000224946

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the BTB/POZ family of transcription factors. This protein has been found to act as a transcriptional activator and may regulate estrogen receptor signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,383,400 (GRCm39)	D855G	possibly damaging	Het
4930486L24Rik	A	T	13: 61,001,059 (GRCm39)	V159D	possibly damaging	Het
Ahnak	G	A	19: 8,979,438 (GRCm39)	A241T	probably benign	Het
Apoa4	T	C	9: 46,152,453 (GRCm39)	M1T	probably null	Het
Atn1	T	C	6: 124,722,748 (GRCm39)	K776E	unknown	Het
Atp1a2	A	G	1: 172,105,822 (GRCm39)	*948R	probably null	Het
Atp7b	T	C	8: 22,502,778 (GRCm39)	Q801R	probably damaging	Het
Birc6	T	A	17: 74,945,398 (GRCm39)	S2824T	probably damaging	Het
Cacng3	A	T	7: 122,361,435 (GRCm39)	I109F	probably damaging	Het
Cass4	T	C	2: 172,269,805 (GRCm39)	F629S	probably benign	Het
Ccdc168	T	G	1: 44,095,399 (GRCm39)	K1900Q	possibly damaging	Het
Cnot6l	T	C	5: 96,230,858 (GRCm39)	T370A	probably damaging	Het
Cntnap5c	A	C	17: 58,409,103 (GRCm39)	D447A	probably damaging	Het
Col11a2	T	A	17: 34,258,669 (GRCm39)	L14Q	unknown	Het
Dennd4a	T	G	9: 64,814,388 (GRCm39)	Y1505*	probably null	Het
Dhx32	T	C	7: 133,327,110 (GRCm39)	M464V	possibly damaging	Het
Dip2b	T	C	15: 100,052,924 (GRCm39)	V266A	probably benign	Het
Dnajb6	C	T	5: 29,986,517 (GRCm39)	Q220*	probably null	Het
Dnmt3a	G	A	12: 3,916,121 (GRCm39)	S102N	probably benign	Het
Dph5	A	T	3: 115,681,977 (GRCm39)		probably benign	Het
Ear6	T	A	14: 52,091,489 (GRCm39)	L12H		Het
Erp27	T	C	6: 136,886,548 (GRCm39)	T162A	possibly damaging	Het
Fance	T	A	17: 28,536,479 (GRCm39)	L13H	probably damaging	Het
Fanci	T	A	7: 79,089,405 (GRCm39)	V947D	probably benign	Het
Gab1	G	A	8: 81,515,484 (GRCm39)	T278M	probably damaging	Het
Gbp4	A	T	5: 105,269,796 (GRCm39)	M344K	probably damaging	Het
Gpr87	C	T	3: 59,087,005 (GRCm39)	V167M	possibly damaging	Het
Gramd1a	T	G	7: 30,829,963 (GRCm39)	D708A	unknown	Het
Gzmd	T	A	14: 56,368,160 (GRCm39)	I100F	probably benign	Het
Hcrtr1	T	A	4: 130,031,054 (GRCm39)	M77L	possibly damaging	Het
Hipk2	C	A	6: 38,680,445 (GRCm39)	R965L	possibly damaging	Het
Ift88	T	C	14: 57,675,724 (GRCm39)	M79T	probably benign	Het
Ighv1-12	T	C	12: 114,579,525 (GRCm39)	Y99C	possibly damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Il22b	A	G	10: 118,130,314 (GRCm39)	V63A	probably benign	Het
Mllt1	C	T	17: 57,207,184 (GRCm39)	R220H	probably damaging	Het
Mroh8	T	C	2: 157,071,913 (GRCm39)	T531A	probably benign	Het
Myh6	T	C	14: 55,181,802 (GRCm39)	K1833R	probably benign	Het
Nfkbie	C	T	17: 45,871,353 (GRCm39)	T270I	probably damaging	Het
Or4c110	G	A	2: 88,831,709 (GRCm39)	P308S	unknown	Het
Or52b3	A	T	7: 102,204,013 (GRCm39)	N174I	probably damaging	Het
Or52e5	C	T	7: 104,718,703 (GRCm39)	H10Y	possibly damaging	Het
Pcdh8	A	T	14: 80,005,689 (GRCm39)	F900I	probably damaging	Het
Pcolce2	T	A	9: 95,520,720 (GRCm39)	C32*	probably null	Het
Pus7	A	T	5: 23,973,859 (GRCm39)	S212T	probably benign	Het
Rgs12	G	T	5: 35,189,614 (GRCm39)	W1322L	probably damaging	Het
Sec1	G	A	7: 45,328,033 (GRCm39)	T338I	probably damaging	Het
Slc25a36	T	C	9: 96,962,522 (GRCm39)	K156E	probably benign	Het
Snrpn	C	T	7: 59,637,212 (GRCm39)	D35N	probably damaging	Het
Sox9	A	G	11: 112,673,705 (GRCm39)	S99G	probably benign	Het
Spmip3	T	C	1: 177,580,545 (GRCm39)	V130A	possibly damaging	Het
Tacc3	T	C	5: 33,821,644 (GRCm39)	S135P	possibly damaging	Het
Taf2	T	C	15: 54,911,667 (GRCm39)	E583G	probably benign	Het
Tmprss7	T	A	16: 45,498,282 (GRCm39)	K366*	probably null	Het
Trpm6	G	T	19: 18,755,978 (GRCm39)	V74L	probably benign	Het
Ttbk2	G	T	2: 120,575,986 (GRCm39)	T997N	probably benign	Het
Utp25	C	A	1: 192,812,541 (GRCm39)		probably benign	Het
Vmn2r3	T	A	3: 64,183,046 (GRCm39)	I218F	probably damaging	Het
Vps50	T	C	6: 3,592,557 (GRCm39)	V730A	probably damaging	Het
Wdr47	A	T	3: 108,544,371 (GRCm39)	I665F	probably damaging	Het
Wnt7a	T	A	6: 91,343,297 (GRCm39)	N195I	probably benign	Het
Zfp709	T	A	8: 72,643,669 (GRCm39)	V366E	possibly damaging	Het
Zfp985	T	A	4: 147,668,280 (GRCm39)	C383S	probably damaging	Het

Other mutations in Zfp131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1444:Zfp131	UTSW	13	120,251,784 (GRCm39)	missense	probably damaging	0.99
R1604:Zfp131	UTSW	13	120,230,316 (GRCm39)	missense	probably damaging	1.00
R1605:Zfp131	UTSW	13	120,230,316 (GRCm39)	missense	probably damaging	1.00
R1712:Zfp131	UTSW	13	120,228,079 (GRCm39)	missense	probably benign	0.00
R1899:Zfp131	UTSW	13	120,228,561 (GRCm39)	missense	probably damaging	0.99
R2207:Zfp131	UTSW	13	120,237,348 (GRCm39)	missense	probably damaging	1.00
R4227:Zfp131	UTSW	13	120,228,282 (GRCm39)	missense	probably damaging	1.00
R4342:Zfp131	UTSW	13	120,237,554 (GRCm39)	missense	probably damaging	0.99
R4852:Zfp131	UTSW	13	120,250,394 (GRCm39)	critical splice donor site	probably null
R4876:Zfp131	UTSW	13	120,250,491 (GRCm39)	missense	possibly damaging	0.88
R4990:Zfp131	UTSW	13	120,244,449 (GRCm39)	missense	probably damaging	1.00
R5979:Zfp131	UTSW	13	120,237,982 (GRCm39)	missense	probably benign	0.03
R6090:Zfp131	UTSW	13	120,237,532 (GRCm39)	missense	probably damaging	0.99
R6269:Zfp131	UTSW	13	120,227,941 (GRCm39)	missense	possibly damaging	0.86
R6791:Zfp131	UTSW	13	120,228,129 (GRCm39)	missense	probably damaging	0.98
R7147:Zfp131	UTSW	13	120,228,079 (GRCm39)	missense	probably benign	0.00
R7217:Zfp131	UTSW	13	120,237,377 (GRCm39)	missense	probably damaging	0.99
R7809:Zfp131	UTSW	13	120,250,446 (GRCm39)	missense	probably damaging	1.00
R7815:Zfp131	UTSW	13	120,237,516 (GRCm39)	missense	probably damaging	0.99
R8231:Zfp131	UTSW	13	120,237,348 (GRCm39)	missense	probably damaging	0.99
R8308:Zfp131	UTSW	13	120,244,440 (GRCm39)	missense	possibly damaging	0.74
R8890:Zfp131	UTSW	13	120,244,338 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGAGAACTGAAGCTCCCC -3'
(R):5'- CCAGGCTCCGATTAGGTCAG -3'

Sequencing Primer
(F):5'- TCGACAATCAGGGTGATGTCC -3'
(R):5'- TCCGATTAGGTCAGGCTCG -3'

Posted On

2022-07-18