Mutagenetix > Incidental Mutation

Incidental Mutation 'R6973:Znfx1'

543697

Institutional Source

Beutler Lab

Gene Symbol

Znfx1

Ensembl Gene

ENSMUSG00000039501

Gene Name

zinc finger, NFX1-type containing 1

Synonyms

MMRRC Submission

045083-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166877713-166904935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166898681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 81 (H81L)

Ref Sequence

ENSEMBL: ENSMUSP00000121750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048988] [ENSMUST00000128676] [ENSMUST00000155281]

AlphaFold

Q8R151

Predicted Effect

probably benign
Transcript: ENSMUST00000048988
AA Change: H81L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: H81L

Domain	Start	End	E-Value	Type
Pfam:AAA_11	590	855	2.2e-17	PFAM
Pfam:AAA_19	597	684	1.7e-10	PFAM
Pfam:AAA_11	829	1033	1.4e-18	PFAM
Pfam:AAA_12	1044	1228	3.7e-42	PFAM
internal_repeat_2	1281	1374	1.33e-7	PROSPERO
internal_repeat_1	1292	1410	1.32e-16	PROSPERO
low complexity region	1422	1433	N/A	INTRINSIC
internal_repeat_1	1434	1547	1.32e-16	PROSPERO
internal_repeat_2	1453	1555	1.33e-7	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000128676
AA Change: H81L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: H81L

Domain	Start	End	E-Value	Type
Pfam:AAA_11	590	837	1.8e-17	PFAM
Pfam:AAA_19	597	684	3.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155281
AA Change: H81L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: H81L

Domain	Start	End	E-Value	Type
Pfam:AAA_11	590	854	1.7e-17	PFAM
Pfam:AAA_19	597	684	3.6e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,182,760 (GRCm39)	Y236C	probably benign	Het
Adamts12	T	A	15: 11,331,866 (GRCm39)	C1461*	probably null	Het
Akap9	A	G	5: 4,096,699 (GRCm39)	N2525D	possibly damaging	Het
Atp6v1c1	A	G	15: 38,690,794 (GRCm39)	N315S	probably damaging	Het
B3gnt7	G	A	1: 86,233,109 (GRCm39)	M1I	probably null	Het
C2cd4d	G	T	3: 94,271,130 (GRCm39)	R132L	probably damaging	Het
Cd244a	A	G	1: 171,401,775 (GRCm39)	Y167C	probably damaging	Het
Chd4	A	G	6: 125,099,825 (GRCm39)	N1666D	possibly damaging	Het
Cubn	A	G	2: 13,386,648 (GRCm39)	I1539T	possibly damaging	Het
Dcdc2a	A	T	13: 25,304,372 (GRCm39)		probably benign	Het
Dgka	C	T	10: 128,565,463 (GRCm39)		probably null	Het
Ephb4	T	G	5: 137,368,066 (GRCm39)	V737G	probably damaging	Het
Etv2	T	C	7: 30,334,167 (GRCm39)	N189D	probably benign	Het
Exoc4	G	T	6: 33,556,965 (GRCm39)	C490F	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gpbp1l1	A	G	4: 116,438,479 (GRCm39)	M192V	possibly damaging	Het
Ireb2	A	G	9: 54,789,671 (GRCm39)	K115R	probably benign	Het
Mybpc1	T	C	10: 88,396,223 (GRCm39)	E208G	possibly damaging	Het
Nfic	C	A	10: 81,256,191 (GRCm39)	A158S	probably benign	Het
Nos3	A	T	5: 24,585,241 (GRCm39)	I798L	probably benign	Het
Ntrk1	A	T	3: 87,691,288 (GRCm39)	L292Q	probably damaging	Het
Or52h7	G	A	7: 104,214,183 (GRCm39)	V252I	probably benign	Het
Or8u3-ps	C	T	2: 85,953,198 (GRCm39)	T310I	probably benign	Het
Pcdhb2	G	C	18: 37,429,416 (GRCm39)	R463P	probably benign	Het
Pcdhgb6	A	T	18: 37,875,526 (GRCm39)	D78V	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Prelid3b	C	A	2: 174,311,155 (GRCm39)	W59L	probably benign	Het
Prex2	T	G	1: 11,182,967 (GRCm39)	S405R	probably damaging	Het
Rp1	G	A	1: 4,422,217 (GRCm39)	Q248*	probably null	Het
Rspo4	T	A	2: 151,709,735 (GRCm39)	C47S	probably damaging	Het
Ryr3	C	A	2: 112,596,656 (GRCm39)	M2499I	probably damaging	Het
Smarca5	A	G	8: 81,431,380 (GRCm39)	Y946H	probably damaging	Het
Spata31d1e	A	G	13: 59,890,521 (GRCm39)	I433T	probably benign	Het
Tcn2	T	C	11: 3,867,649 (GRCm39)	*431W	probably null	Het
Tert	A	G	13: 73,776,107 (GRCm39)	E286G	probably benign	Het
Tnni3	A	G	7: 4,521,416 (GRCm39)	I196T	possibly damaging	Het
Unc79	T	C	12: 102,964,699 (GRCm39)	I49T	possibly damaging	Het
Zfp687	A	G	3: 94,916,688 (GRCm39)	S813P	possibly damaging	Het

Other mutations in Znfx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Znfx1	APN	2	166,878,649 (GRCm39)	missense	possibly damaging	0.65
IGL00492:Znfx1	APN	2	166,878,843 (GRCm39)	missense	probably damaging	1.00
IGL01285:Znfx1	APN	2	166,880,615 (GRCm39)	missense	possibly damaging	0.76
IGL01343:Znfx1	APN	2	166,879,283 (GRCm39)	missense	probably benign	0.16
IGL01767:Znfx1	APN	2	166,897,643 (GRCm39)	missense	probably damaging	1.00
IGL01983:Znfx1	APN	2	166,898,270 (GRCm39)	missense	probably damaging	1.00
IGL02006:Znfx1	APN	2	166,897,683 (GRCm39)	missense	probably damaging	1.00
IGL02254:Znfx1	APN	2	166,897,643 (GRCm39)	missense	probably damaging	1.00
IGL02421:Znfx1	APN	2	166,902,000 (GRCm39)	missense	probably damaging	0.97
IGL02496:Znfx1	APN	2	166,889,550 (GRCm39)	missense	possibly damaging	0.83
IGL02525:Znfx1	APN	2	166,879,457 (GRCm39)	missense	probably benign	0.00
IGL02528:Znfx1	APN	2	166,892,324 (GRCm39)	missense	probably benign	0.11
IGL02537:Znfx1	APN	2	166,898,087 (GRCm39)	missense	probably benign	0.37
IGL03065:Znfx1	APN	2	166,897,685 (GRCm39)	missense	probably benign	0.00
raywing	UTSW	2	166,879,738 (GRCm39)	missense	probably damaging	1.00
sharkfin	UTSW	2	166,898,237 (GRCm39)	missense	probably benign	0.03
skate	UTSW	2	166,880,137 (GRCm39)	missense	probably benign	0.06
R0127:Znfx1	UTSW	2	166,886,130 (GRCm39)	missense	possibly damaging	0.84
R0331:Znfx1	UTSW	2	166,888,898 (GRCm39)	missense	probably benign	0.11
R0488:Znfx1	UTSW	2	166,884,483 (GRCm39)	missense	possibly damaging	0.52
R0497:Znfx1	UTSW	2	166,897,331 (GRCm39)	missense	probably benign	0.03
R0537:Znfx1	UTSW	2	166,883,621 (GRCm39)	missense	probably damaging	1.00
R0542:Znfx1	UTSW	2	166,897,575 (GRCm39)	missense	probably damaging	1.00
R0650:Znfx1	UTSW	2	166,889,574 (GRCm39)	nonsense	probably null
R0655:Znfx1	UTSW	2	166,898,827 (GRCm39)	missense	probably damaging	1.00
R1104:Znfx1	UTSW	2	166,897,560 (GRCm39)	nonsense	probably null
R1470:Znfx1	UTSW	2	166,884,507 (GRCm39)	missense	possibly damaging	0.91
R1470:Znfx1	UTSW	2	166,884,507 (GRCm39)	missense	possibly damaging	0.91
R1512:Znfx1	UTSW	2	166,898,237 (GRCm39)	missense	probably benign	0.03
R1533:Znfx1	UTSW	2	166,898,708 (GRCm39)	missense	probably benign	0.10
R1541:Znfx1	UTSW	2	166,898,110 (GRCm39)	missense	probably damaging	0.99
R1642:Znfx1	UTSW	2	166,880,930 (GRCm39)	missense	possibly damaging	0.95
R1720:Znfx1	UTSW	2	166,885,986 (GRCm39)	nonsense	probably null
R1760:Znfx1	UTSW	2	166,881,786 (GRCm39)	missense	probably damaging	0.96
R1865:Znfx1	UTSW	2	166,880,729 (GRCm39)	missense	probably damaging	1.00
R1959:Znfx1	UTSW	2	166,892,270 (GRCm39)	missense	probably damaging	1.00
R2088:Znfx1	UTSW	2	166,897,730 (GRCm39)	missense	probably damaging	1.00
R4581:Znfx1	UTSW	2	166,892,236 (GRCm39)	missense	probably damaging	1.00
R4622:Znfx1	UTSW	2	166,883,673 (GRCm39)	missense	possibly damaging	0.91
R4649:Znfx1	UTSW	2	166,898,276 (GRCm39)	missense	probably benign	0.08
R4685:Znfx1	UTSW	2	166,880,950 (GRCm39)	missense	probably damaging	1.00
R4798:Znfx1	UTSW	2	166,880,489 (GRCm39)	splice site	probably null
R4827:Znfx1	UTSW	2	166,886,151 (GRCm39)	missense	possibly damaging	0.77
R4870:Znfx1	UTSW	2	166,897,189 (GRCm39)	missense	probably benign
R4910:Znfx1	UTSW	2	166,879,402 (GRCm39)	missense	probably benign	0.00
R4910:Znfx1	UTSW	2	166,878,724 (GRCm39)	missense	probably damaging	1.00
R5022:Znfx1	UTSW	2	166,881,746 (GRCm39)	missense	probably damaging	1.00
R5023:Znfx1	UTSW	2	166,881,746 (GRCm39)	missense	probably damaging	1.00
R5057:Znfx1	UTSW	2	166,881,746 (GRCm39)	missense	probably damaging	1.00
R5061:Znfx1	UTSW	2	166,907,318 (GRCm39)	unclassified	probably benign
R5119:Znfx1	UTSW	2	166,907,307 (GRCm39)	unclassified	probably benign
R5125:Znfx1	UTSW	2	166,888,859 (GRCm39)	missense	possibly damaging	0.81
R5896:Znfx1	UTSW	2	166,880,920 (GRCm39)	missense	probably damaging	1.00
R6107:Znfx1	UTSW	2	166,879,001 (GRCm39)	missense	possibly damaging	0.67
R6112:Znfx1	UTSW	2	166,880,126 (GRCm39)	missense	probably benign
R6158:Znfx1	UTSW	2	166,898,646 (GRCm39)	missense	probably benign	0.19
R6281:Znfx1	UTSW	2	166,897,805 (GRCm39)	missense	probably damaging	1.00
R6464:Znfx1	UTSW	2	166,888,842 (GRCm39)	missense	probably benign	0.34
R6749:Znfx1	UTSW	2	166,898,519 (GRCm39)	missense	probably benign	0.00
R6888:Znfx1	UTSW	2	166,880,860 (GRCm39)	missense	possibly damaging	0.91
R7017:Znfx1	UTSW	2	166,890,454 (GRCm39)	missense	probably damaging	1.00
R7138:Znfx1	UTSW	2	166,898,697 (GRCm39)	missense	probably benign	0.03
R7192:Znfx1	UTSW	2	166,884,110 (GRCm39)	missense	probably benign	0.00
R7426:Znfx1	UTSW	2	166,890,475 (GRCm39)	missense	probably damaging	1.00
R7431:Znfx1	UTSW	2	166,897,712 (GRCm39)	missense	probably damaging	1.00
R7473:Znfx1	UTSW	2	166,880,744 (GRCm39)	missense	probably damaging	1.00
R7593:Znfx1	UTSW	2	166,898,145 (GRCm39)	missense	probably benign	0.28
R7732:Znfx1	UTSW	2	166,884,589 (GRCm39)	missense	possibly damaging	0.91
R7835:Znfx1	UTSW	2	166,881,747 (GRCm39)	missense	probably damaging	1.00
R7993:Znfx1	UTSW	2	166,897,857 (GRCm39)	nonsense	probably null
R8154:Znfx1	UTSW	2	166,897,157 (GRCm39)	missense	probably damaging	1.00
R8351:Znfx1	UTSW	2	166,897,575 (GRCm39)	missense	probably damaging	1.00
R8790:Znfx1	UTSW	2	166,892,500 (GRCm39)	intron	probably benign
R8953:Znfx1	UTSW	2	166,897,421 (GRCm39)	missense	probably damaging	1.00
R9005:Znfx1	UTSW	2	166,880,656 (GRCm39)	missense
R9131:Znfx1	UTSW	2	166,892,298 (GRCm39)	missense	probably benign
R9163:Znfx1	UTSW	2	166,898,261 (GRCm39)	missense	probably damaging	1.00
R9169:Znfx1	UTSW	2	166,897,185 (GRCm39)	missense	probably benign
R9181:Znfx1	UTSW	2	166,880,137 (GRCm39)	missense	probably benign	0.06
R9181:Znfx1	UTSW	2	166,879,738 (GRCm39)	missense	probably damaging	1.00
R9300:Znfx1	UTSW	2	166,897,860 (GRCm39)	missense	probably damaging	1.00
R9448:Znfx1	UTSW	2	166,888,844 (GRCm39)	missense	probably benign	0.04
R9569:Znfx1	UTSW	2	166,897,875 (GRCm39)	missense
X0064:Znfx1	UTSW	2	166,897,176 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTTGTAGCCCAGTCTCTTGG -3'
(R):5'- CTTATTGGGCGTCGTGACTC -3'

Sequencing Primer
(F):5'- GTAGCCCAGTCTCTTGGTCTGC -3'
(R):5'- AGGTCCTATGGATGGAGAATTGCC -3'

Posted On

2019-05-13