Mutagenetix > Incidental Mutation

Incidental Mutation 'R6112:Znfx1'

484889

Institutional Source

Beutler Lab

Gene Symbol

Znfx1

Ensembl Gene

ENSMUSG00000039501

Gene Name

zinc finger, NFX1-type containing 1

Synonyms

MMRRC Submission

044261-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6112 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166877713-166904935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166880126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 553 (Y553H)

Ref Sequence

ENSEMBL: ENSMUSP00000072867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000048988] [ENSMUST00000067584]

AlphaFold

Q8R151

Predicted Effect

probably benign
Transcript: ENSMUST00000018143

SMART Domains

Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
coiled coil region	78	106	N/A	INTRINSIC
low complexity region	133	148	N/A	INTRINSIC
low complexity region	157	166	N/A	INTRINSIC
DEXDc	203	404	2.24e-56	SMART
HELICc	443	524	1.71e-29	SMART
coiled coil region	577	613	N/A	INTRINSIC
low complexity region	622	629	N/A	INTRINSIC
low complexity region	644	657	N/A	INTRINSIC
low complexity region	679	692	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048988
AA Change: Y1417H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: Y1417H

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
AA Change: Y553H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501
AA Change: Y553H

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

noncoding transcript
Transcript: ENSMUST00000127468

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,278,780 (GRCm39)	Y1030C	probably damaging	Het
Adh5	G	T	3: 138,157,029 (GRCm39)	V197F	probably damaging	Het
Ankmy1	A	T	1: 92,798,684 (GRCm39)	F936I	probably damaging	Het
Aoc1	A	T	6: 48,885,625 (GRCm39)	D710V	probably damaging	Het
Aplp1	T	C	7: 30,134,902 (GRCm39)	E622G	probably damaging	Het
Arhgap20	T	C	9: 51,740,684 (GRCm39)	Y219H	probably damaging	Het
Bag3	A	G	7: 128,143,556 (GRCm39)	D184G	probably damaging	Het
Cacna1g	C	T	11: 94,300,072 (GRCm39)	A2216T	probably damaging	Het
Cbarp	T	C	10: 79,971,205 (GRCm39)		probably null	Het
Cep250	C	A	2: 155,836,503 (GRCm39)	L2211I	possibly damaging	Het
Cfap65	A	G	1: 74,942,298 (GRCm39)	I1752T	probably benign	Het
Col4a4	A	G	1: 82,431,604 (GRCm39)	V1560A	unknown	Het
Dapk3	A	T	10: 81,019,864 (GRCm39)	Q6L	probably benign	Het
Dctn5	A	G	7: 121,732,460 (GRCm39)		probably benign	Het
Eef1akmt1	A	T	14: 57,787,330 (GRCm39)	I182N	possibly damaging	Het
Eef1g	T	C	19: 8,954,955 (GRCm39)	F346S	probably damaging	Het
Erap1	G	T	13: 74,794,398 (GRCm39)	W19L	probably benign	Het
Gm10801	A	G	2: 98,494,409 (GRCm39)	H162R	probably benign	Het
Gpm6a	G	A	8: 55,507,845 (GRCm39)	A194T	probably benign	Het
Grip1	C	A	10: 119,829,137 (GRCm39)	N32K	probably benign	Het
Hmcn1	A	G	1: 150,494,687 (GRCm39)	I4134T	probably damaging	Het
Hspa14	G	A	2: 3,499,105 (GRCm39)	H230Y	probably benign	Het
Ift172	T	C	5: 31,414,241 (GRCm39)	T1435A	probably benign	Het
Igsf3	T	A	3: 101,358,322 (GRCm39)	Y738N	probably damaging	Het
Lcor	T	C	19: 41,547,520 (GRCm39)	V368A	possibly damaging	Het
Lmna	C	A	3: 88,393,928 (GRCm39)	E217*	probably null	Het
Lrp1b	C	T	2: 41,231,894 (GRCm39)	G337E	probably benign	Het
Maf1	A	G	15: 76,236,312 (GRCm39)		probably benign	Het
Magi1	T	C	6: 93,722,571 (GRCm39)	I436V	probably damaging	Het
Muc4	C	T	16: 32,596,157 (GRCm39)	T3123I	possibly damaging	Het
Muc5b	T	A	7: 141,417,042 (GRCm39)	H3329Q	probably benign	Het
Noa1	C	T	5: 77,457,593 (GRCm39)	R104Q	probably benign	Het
Odc1	T	G	12: 17,599,473 (GRCm39)	S267A	probably benign	Het
Or5p60	T	A	7: 107,724,369 (GRCm39)	I34F	probably benign	Het
Pam	A	G	1: 97,762,193 (GRCm39)	Y691H	probably damaging	Het
Pamr1	T	C	2: 102,441,953 (GRCm39)	Y181H	probably damaging	Het
Pcdhga2	T	A	18: 37,802,612 (GRCm39)	I152N	probably damaging	Het
Pigt	C	T	2: 164,348,365 (GRCm39)	Q437*	probably null	Het
Prx	T	C	7: 27,215,973 (GRCm39)	L158P	probably damaging	Het
Ptprh	T	A	7: 4,600,922 (GRCm39)	T152S	probably benign	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rad51ap2	T	C	12: 11,507,290 (GRCm39)	I404T	probably benign	Het
Radil	C	T	5: 142,529,399 (GRCm39)	R99H	probably damaging	Het
Rc3h2	C	T	2: 37,268,899 (GRCm39)	V856I	possibly damaging	Het
Slx4ip	T	A	2: 136,888,664 (GRCm39)	V115E	probably damaging	Het
Snx3	C	A	10: 42,402,042 (GRCm39)	S85R	probably benign	Het
Sppl2c	A	T	11: 104,077,963 (GRCm39)	E254D	probably benign	Het
Srms	C	A	2: 180,849,780 (GRCm39)	E237*	probably null	Het
Tenm1	C	T	X: 41,916,072 (GRCm39)	G404E	probably damaging	Het
Trank1	T	C	9: 111,220,805 (GRCm39)	L2514P	probably damaging	Het
Trib1	C	T	15: 59,523,487 (GRCm39)	R174*	probably null	Het
Usp4	A	G	9: 108,233,703 (GRCm39)	Y108C	probably damaging	Het
Vmn2r60	A	T	7: 41,844,847 (GRCm39)	I737F	probably damaging	Het
Zfp600	A	T	4: 146,131,701 (GRCm39)	H123L	probably benign	Het
Zfp646	G	T	7: 127,478,190 (GRCm39)	R122S	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
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'- CAGCGGTTCTGACATGTTCG -3'
(R):5'- TGGTCCCTTGTTCAATGTCAGAG -3'

Sequencing Primer
(F):5'- CTGACATGTTCGCTGGCAG -3'
(R):5'- CCCTTGTTCAATGTCAGAGTCAGAG -3'

Posted On

2017-08-16