Mutagenetix > Incidental Mutation

Incidental Mutation 'R5125:Znfx1'

393485

Institutional Source

Beutler Lab

Gene Symbol

Znfx1

Ensembl Gene

ENSMUSG00000039501

Gene Name

zinc finger, NFX1-type containing 1

Synonyms

MMRRC Submission

042713-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5125 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

166877713-166904935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 166888859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 783 (V783E)

Ref Sequence

ENSEMBL: ENSMUSP00000121750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048988] [ENSMUST00000067584] [ENSMUST00000128676] [ENSMUST00000155281]

AlphaFold

Q8R151

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048988
AA Change: V783E

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: V783E

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: ENSMUST00000067584

SMART Domains

Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501

Domain	Start	End	E-Value	Type
Pfam:AAA_11	8	170	1.2e-17	PFAM
Pfam:AAA_12	180	364	7.4e-42	PFAM
internal_repeat_2	417	510	1.08e-6	PROSPERO
internal_repeat_1	428	546	1.81e-14	PROSPERO
low complexity region	558	569	N/A	INTRINSIC
internal_repeat_1	570	683	1.81e-14	PROSPERO
internal_repeat_2	589	691	1.08e-6	PROSPERO

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128676
AA Change: V783E

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: V783E

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

noncoding transcript
Transcript: ENSMUST00000135967

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155281
AA Change: V783E

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: V783E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	G	T	13: 23,606,819 (GRCm39)	A94E	possibly damaging	Het
Carmil2	G	T	8: 106,423,521 (GRCm39)	G1207V	probably damaging	Het
Cyp2c66	A	G	19: 39,159,473 (GRCm39)	Y308C	probably damaging	Het
Dcc	A	G	18: 71,589,948 (GRCm39)	F683L	probably benign	Het
Denr	A	T	5: 124,065,144 (GRCm39)	I166F	probably damaging	Het
Dhx29	T	G	13: 113,069,134 (GRCm39)	S155A	possibly damaging	Het
Dsg1b	G	A	18: 20,530,560 (GRCm39)	G405E	probably damaging	Het
Ei24	T	A	9: 36,693,742 (GRCm39)		probably benign	Het
Exo5	A	T	4: 120,778,734 (GRCm39)		probably null	Het
Gm7356	T	C	17: 14,221,576 (GRCm39)	D151G	probably damaging	Het
Grin1	T	C	2: 25,186,839 (GRCm39)		probably benign	Het
Grin2b	C	T	6: 135,900,297 (GRCm39)	V195M	possibly damaging	Het
Hephl1	T	A	9: 14,997,468 (GRCm39)	K399N	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kmt2c	A	G	5: 25,489,379 (GRCm39)	V4520A	probably damaging	Het
Lair1	G	A	7: 4,013,488 (GRCm39)	T82I	possibly damaging	Het
Lmx1a	C	T	1: 167,658,256 (GRCm39)	S213L	possibly damaging	Het
Ly6g6d	A	G	17: 35,293,418 (GRCm39)	I8T	possibly damaging	Het
Mcm4	T	A	16: 15,453,167 (GRCm39)	D174V	probably benign	Het
Mcph1	T	A	8: 18,657,342 (GRCm39)	D60E	probably damaging	Het
Med12l	G	A	3: 59,174,635 (GRCm39)	G1851D	possibly damaging	Het
Or13c7b	T	A	4: 43,820,480 (GRCm39)	I294F	probably benign	Het
Or7e174	T	A	9: 20,012,488 (GRCm39)	C144*	probably null	Het
P2rx2	G	A	5: 110,490,517 (GRCm39)	T66I	possibly damaging	Het
Pcdh15	A	G	10: 74,419,912 (GRCm39)	E1197G	probably damaging	Het
Pira1	T	A	7: 3,742,396 (GRCm39)	K44*	probably null	Het
Ppwd1	A	T	13: 104,356,943 (GRCm39)	S191T	probably benign	Het
Rbm39	A	T	2: 156,004,785 (GRCm39)	M184K	probably damaging	Het
Reln	A	G	5: 22,118,239 (GRCm39)	V2935A	possibly damaging	Het
Robo4	T	C	9: 37,319,256 (GRCm39)	W535R	probably damaging	Het
Rsf1	A	G	7: 97,311,079 (GRCm39)	D603G	possibly damaging	Het
Sh3rf3	C	G	10: 58,967,012 (GRCm39)	P785A	probably benign	Het
Slc22a26	T	C	19: 7,767,540 (GRCm39)	T289A	possibly damaging	Het
Slc24a3	T	C	2: 145,360,767 (GRCm39)	V120A	possibly damaging	Het
Sost	C	T	11: 101,854,767 (GRCm39)	G181R	probably damaging	Het
Sp2	A	G	11: 96,846,664 (GRCm39)	F554L	probably benign	Het
Stim2	T	C	5: 54,267,939 (GRCm39)	S87P	probably damaging	Het
Tecta	T	C	9: 42,286,481 (GRCm39)	D725G	probably damaging	Het
Trgc4	A	G	13: 19,528,932 (GRCm39)		probably benign	Het
Ube4b	T	C	4: 149,427,449 (GRCm39)	M900V	probably damaging	Het
Ugt2b38	A	G	5: 87,559,671 (GRCm39)	M407T	probably damaging	Het
Vmn1r87	G	T	7: 12,865,792 (GRCm39)	A165E	possibly damaging	Het
Zc3h6	A	G	2: 128,856,399 (GRCm39)	H493R	possibly damaging	Het
Zfhx2	A	T	14: 55,312,232 (GRCm39)	F154Y	probably benign	Het
Zfp729a	A	G	13: 67,785,764 (GRCm39)		probably null	Het
Zfp976	A	G	7: 42,261,925 (GRCm39)		probably null	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably 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
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
R6973:Znfx1	UTSW	2	166,898,681 (GRCm39)	missense	probably benign	0.18
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'- GGCCTTGCTGTCCTGTTAAG -3'
(R):5'- CTACTCTTGAGATTTACCCTCAGG -3'

Sequencing Primer
(F):5'- AAGTCCTCTGCTATCTGACGCAG -3'
(R):5'- ATCTCATAGATGGTTGTGAGCCACC -3'

Posted On

2016-06-15