Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03053:Zzef1'

409162

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zzef1

Ensembl Gene

ENSMUSG00000055670

Gene Name

zinc finger, ZZ-type with EF hand domain 1

Synonyms

8430405D05Rik, C130099L13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

72687052-72817946 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 72722365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069395] [ENSMUST00000172220] [ENSMUST00000207107]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069395

SMART Domains

Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	28	68	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
APC10	246	397	2.65e-48	SMART
internal_repeat_1	1122	1192	1.25e-7	PROSPERO
low complexity region	1472	1485	N/A	INTRINSIC
low complexity region	1512	1525	N/A	INTRINSIC
ZnF_ZZ	1775	1823	2.54e-7	SMART
ZnF_ZZ	1824	1868	1.2e-8	SMART
low complexity region	1947	1963	N/A	INTRINSIC
low complexity region	2127	2140	N/A	INTRINSIC
low complexity region	2249	2263	N/A	INTRINSIC
internal_repeat_1	2657	2726	1.25e-7	PROSPERO
low complexity region	2840	2853	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150551

Predicted Effect

probably benign
Transcript: ENSMUST00000172220

SMART Domains

Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	28	68	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
APC10	246	397	2.65e-48	SMART
internal_repeat_1	1006	1192	1.57e-16	PROSPERO
low complexity region	1472	1485	N/A	INTRINSIC
low complexity region	1512	1525	N/A	INTRINSIC
ZnF_ZZ	1775	1823	2.54e-7	SMART
ZnF_ZZ	1824	1868	1.2e-8	SMART
low complexity region	1947	1963	N/A	INTRINSIC
low complexity region	2127	2140	N/A	INTRINSIC
low complexity region	2249	2263	N/A	INTRINSIC
internal_repeat_1	2583	2759	1.57e-16	PROSPERO
low complexity region	2873	2886	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207107

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	A	4: 106,613,050 (GRCm39)	Q342*	probably null	Het
Arglu1	T	A	8: 8,733,960 (GRCm39)	I119L	probably benign	Het
Atp1a2	G	A	1: 172,105,923 (GRCm39)	T914I	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Brwd1	A	T	16: 95,818,877 (GRCm39)	S1318R	possibly damaging	Het
C1qtnf12	A	T	4: 156,050,921 (GRCm39)	N297Y	probably damaging	Het
Cgas	A	T	9: 78,344,719 (GRCm39)	F234Y	probably benign	Het
Cyp2a4	A	T	7: 26,012,975 (GRCm39)		probably benign	Het
Cyp2j7	C	T	4: 96,118,274 (GRCm39)	M106I	probably benign	Het
Dis3	A	G	14: 99,336,170 (GRCm39)	V112A	probably benign	Het
Ehd3	A	G	17: 74,112,437 (GRCm39)	Y67C	probably damaging	Het
Elavl4	A	T	4: 110,108,691 (GRCm39)	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,650,126 (GRCm39)	V252G	probably benign	Het
Fggy	A	T	4: 95,815,046 (GRCm39)		probably benign	Het
Hc	G	T	2: 34,914,210 (GRCm39)	N832K	probably benign	Het
Hnf1a	T	A	5: 115,108,792 (GRCm39)	M38L	probably benign	Het
Kif13a	T	C	13: 46,905,564 (GRCm39)	N793S	probably benign	Het
Kit	A	G	5: 75,771,574 (GRCm39)	N244D	probably benign	Het
Mgat5b	A	G	11: 116,814,276 (GRCm39)	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,469,723 (GRCm39)	H1098R	probably benign	Het
Or2l13	A	T	16: 19,305,969 (GRCm39)	H127L	probably benign	Het
Or2n1e	A	C	17: 38,585,682 (GRCm39)	S7R	probably damaging	Het
Or4c123	A	C	2: 89,126,789 (GRCm39)	I275S	probably damaging	Het
Or4p7	A	G	2: 88,221,938 (GRCm39)	M116V	probably damaging	Het
Or5ac16	A	G	16: 59,022,610 (GRCm39)	Y60H	probably damaging	Het
Or5t9	A	G	2: 86,659,607 (GRCm39)	I170M	possibly damaging	Het
Or6d15	T	C	6: 116,559,206 (GRCm39)	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,281,664 (GRCm39)	I42T	probably damaging	Het
Prkd2	A	G	7: 16,584,188 (GRCm39)	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,652,030 (GRCm39)	I3806V	probably benign	Het
Rasgrp2	T	C	19: 6,457,362 (GRCm39)		probably benign	Het
Rc3h1	T	A	1: 160,783,387 (GRCm39)	D734E	probably benign	Het
Rtel1	A	G	2: 180,993,737 (GRCm39)	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,168,597 (GRCm39)	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833 (GRCm39)	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,239,933 (GRCm39)	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,800,077 (GRCm39)	Y755C	probably damaging	Het
Zfhx3	T	C	8: 109,673,132 (GRCm39)	V1394A	probably damaging	Het
Zng1	T	A	19: 24,932,741 (GRCm39)	E97D	probably damaging	Het

Other mutations in Zzef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Zzef1	APN	11	72,765,952 (GRCm39)	missense	probably benign	0.02
IGL00898:Zzef1	APN	11	72,765,999 (GRCm39)	missense	probably benign	0.00
IGL00970:Zzef1	APN	11	72,806,071 (GRCm39)	missense	probably benign	0.06
IGL01062:Zzef1	APN	11	72,765,795 (GRCm39)	missense	probably benign
IGL01832:Zzef1	APN	11	72,765,892 (GRCm39)	missense	probably damaging	0.99
IGL02005:Zzef1	APN	11	72,779,125 (GRCm39)	missense	probably benign	0.00
IGL02026:Zzef1	APN	11	72,772,164 (GRCm39)	missense	probably benign	0.39
IGL02110:Zzef1	APN	11	72,803,938 (GRCm39)	missense	probably damaging	1.00
IGL02305:Zzef1	APN	11	72,757,423 (GRCm39)	splice site	probably benign
IGL02308:Zzef1	APN	11	72,777,573 (GRCm39)	missense	probably benign	0.04
IGL02315:Zzef1	APN	11	72,766,083 (GRCm39)	nonsense	probably null
IGL02332:Zzef1	APN	11	72,807,335 (GRCm39)	missense	probably benign	0.01
IGL02389:Zzef1	APN	11	72,782,043 (GRCm39)	missense	probably benign
IGL02389:Zzef1	APN	11	72,790,364 (GRCm39)	missense	possibly damaging	0.89
IGL02451:Zzef1	APN	11	72,792,214 (GRCm39)	missense	probably damaging	0.99
IGL02541:Zzef1	APN	11	72,763,475 (GRCm39)	missense	probably damaging	1.00
IGL02950:Zzef1	APN	11	72,808,525 (GRCm39)	splice site	probably benign
IGL02953:Zzef1	APN	11	72,746,224 (GRCm39)	missense	probably benign
IGL03085:Zzef1	APN	11	72,746,350 (GRCm39)	splice site	probably benign
IGL03152:Zzef1	APN	11	72,814,008 (GRCm39)	critical splice donor site	probably null
IGL03329:Zzef1	APN	11	72,808,099 (GRCm39)	splice site	probably benign
IGL03376:Zzef1	APN	11	72,767,377 (GRCm39)	splice site	probably benign
IGL03394:Zzef1	APN	11	72,777,601 (GRCm39)	splice site	probably null
Dreidel	UTSW	11	72,799,295 (GRCm39)	nonsense	probably null
Hanukkah	UTSW	11	72,784,158 (GRCm39)	missense	probably benign	0.00
Mezuzah	UTSW	11	72,739,559 (GRCm39)	nonsense	probably null
BB005:Zzef1	UTSW	11	72,712,722 (GRCm39)	missense	probably damaging	0.99
BB015:Zzef1	UTSW	11	72,712,722 (GRCm39)	missense	probably damaging	0.99
PIT4508001:Zzef1	UTSW	11	72,786,002 (GRCm39)	missense	probably benign
PIT4581001:Zzef1	UTSW	11	72,790,498 (GRCm39)	missense	probably benign	0.00
PIT4810001:Zzef1	UTSW	11	72,741,571 (GRCm39)	missense	probably damaging	1.00
R0094:Zzef1	UTSW	11	72,708,791 (GRCm39)	missense	probably benign	0.01
R0119:Zzef1	UTSW	11	72,712,677 (GRCm39)	missense	probably benign
R0136:Zzef1	UTSW	11	72,712,677 (GRCm39)	missense	probably benign
R0140:Zzef1	UTSW	11	72,790,377 (GRCm39)	missense	possibly damaging	0.70
R0212:Zzef1	UTSW	11	72,764,736 (GRCm39)	missense	possibly damaging	0.66
R0217:Zzef1	UTSW	11	72,779,894 (GRCm39)	missense	probably damaging	1.00
R0220:Zzef1	UTSW	11	72,756,792 (GRCm39)	missense	probably damaging	1.00
R0304:Zzef1	UTSW	11	72,771,450 (GRCm39)	missense	probably benign	0.10
R0400:Zzef1	UTSW	11	72,786,068 (GRCm39)	missense	probably damaging	1.00
R0422:Zzef1	UTSW	11	72,756,917 (GRCm39)	missense	possibly damaging	0.93
R0471:Zzef1	UTSW	11	72,813,937 (GRCm39)	missense	probably damaging	1.00
R0557:Zzef1	UTSW	11	72,808,556 (GRCm39)	missense	probably damaging	1.00
R0581:Zzef1	UTSW	11	72,742,726 (GRCm39)	missense	probably benign	0.00
R0599:Zzef1	UTSW	11	72,804,004 (GRCm39)	missense	probably damaging	1.00
R0603:Zzef1	UTSW	11	72,708,895 (GRCm39)	missense	probably benign	0.00
R0657:Zzef1	UTSW	11	72,712,677 (GRCm39)	missense	probably benign
R0987:Zzef1	UTSW	11	72,792,159 (GRCm39)	small deletion	probably benign
R1246:Zzef1	UTSW	11	72,765,735 (GRCm39)	missense	probably benign	0.00
R1327:Zzef1	UTSW	11	72,784,240 (GRCm39)	critical splice donor site	probably null
R1438:Zzef1	UTSW	11	72,803,771 (GRCm39)	missense	probably damaging	0.96
R1466:Zzef1	UTSW	11	72,815,505 (GRCm39)	missense	probably damaging	1.00
R1466:Zzef1	UTSW	11	72,815,505 (GRCm39)	missense	probably damaging	1.00
R1485:Zzef1	UTSW	11	72,791,635 (GRCm39)	splice site	probably null
R1556:Zzef1	UTSW	11	72,806,059 (GRCm39)	missense	probably damaging	1.00
R1563:Zzef1	UTSW	11	72,739,559 (GRCm39)	nonsense	probably null
R1584:Zzef1	UTSW	11	72,815,505 (GRCm39)	missense	probably damaging	1.00
R1643:Zzef1	UTSW	11	72,717,028 (GRCm39)	missense	probably damaging	1.00
R1646:Zzef1	UTSW	11	72,754,862 (GRCm39)	critical splice donor site	probably null
R1764:Zzef1	UTSW	11	72,784,158 (GRCm39)	missense	probably benign	0.00
R1777:Zzef1	UTSW	11	72,801,098 (GRCm39)	missense	probably damaging	1.00
R1793:Zzef1	UTSW	11	72,777,535 (GRCm39)	missense	probably damaging	1.00
R1900:Zzef1	UTSW	11	72,739,540 (GRCm39)	missense	probably damaging	0.99
R2096:Zzef1	UTSW	11	72,763,465 (GRCm39)	missense	probably benign	0.02
R2134:Zzef1	UTSW	11	72,771,450 (GRCm39)	missense	probably benign	0.02
R2157:Zzef1	UTSW	11	72,739,460 (GRCm39)	splice site	probably benign
R2183:Zzef1	UTSW	11	72,777,544 (GRCm39)	nonsense	probably null
R2192:Zzef1	UTSW	11	72,800,982 (GRCm39)	splice site	probably null
R2230:Zzef1	UTSW	11	72,775,242 (GRCm39)	missense	probably damaging	0.99
R2259:Zzef1	UTSW	11	72,791,459 (GRCm39)	nonsense	probably null
R2384:Zzef1	UTSW	11	72,749,220 (GRCm39)	missense	probably damaging	0.99
R2426:Zzef1	UTSW	11	72,806,091 (GRCm39)	missense	probably benign	0.01
R2915:Zzef1	UTSW	11	72,801,152 (GRCm39)	splice site	probably null
R3700:Zzef1	UTSW	11	72,777,598 (GRCm39)	missense	probably null	1.00
R3875:Zzef1	UTSW	11	72,779,866 (GRCm39)	missense	probably benign	0.22
R3902:Zzef1	UTSW	11	72,799,326 (GRCm39)	missense	probably damaging	1.00
R3927:Zzef1	UTSW	11	72,749,208 (GRCm39)	missense	probably damaging	1.00
R4086:Zzef1	UTSW	11	72,765,879 (GRCm39)	missense	probably benign	0.02
R4301:Zzef1	UTSW	11	72,779,861 (GRCm39)	missense	probably damaging	0.96
R4359:Zzef1	UTSW	11	72,714,334 (GRCm39)	missense	probably damaging	0.98
R4382:Zzef1	UTSW	11	72,765,938 (GRCm39)	missense	probably benign	0.00
R4453:Zzef1	UTSW	11	72,763,465 (GRCm39)	missense	probably benign	0.02
R4466:Zzef1	UTSW	11	72,815,485 (GRCm39)	missense	probably damaging	1.00
R4471:Zzef1	UTSW	11	72,804,157 (GRCm39)	missense	probably damaging	1.00
R4510:Zzef1	UTSW	11	72,778,996 (GRCm39)	missense	probably benign	0.32
R4511:Zzef1	UTSW	11	72,778,996 (GRCm39)	missense	probably benign	0.32
R4714:Zzef1	UTSW	11	72,728,038 (GRCm39)	missense	probably damaging	1.00
R4799:Zzef1	UTSW	11	72,750,449 (GRCm39)	missense	probably benign	0.12
R4906:Zzef1	UTSW	11	72,792,214 (GRCm39)	missense	probably damaging	1.00
R5075:Zzef1	UTSW	11	72,749,170 (GRCm39)	missense	probably damaging	1.00
R5357:Zzef1	UTSW	11	72,734,159 (GRCm39)	nonsense	probably null
R5579:Zzef1	UTSW	11	72,791,463 (GRCm39)	missense	probably damaging	0.98
R5598:Zzef1	UTSW	11	72,807,347 (GRCm39)	missense	probably damaging	1.00
R5725:Zzef1	UTSW	11	72,746,308 (GRCm39)	missense	possibly damaging	0.86
R5765:Zzef1	UTSW	11	72,712,763 (GRCm39)	nonsense	probably null
R5928:Zzef1	UTSW	11	72,803,678 (GRCm39)	missense	probably damaging	1.00
R6003:Zzef1	UTSW	11	72,714,891 (GRCm39)	splice site	probably null
R6047:Zzef1	UTSW	11	72,756,921 (GRCm39)	missense	probably damaging	0.99
R6224:Zzef1	UTSW	11	72,746,209 (GRCm39)	missense	probably damaging	0.99
R6225:Zzef1	UTSW	11	72,760,631 (GRCm39)	missense	possibly damaging	0.62
R6287:Zzef1	UTSW	11	72,813,938 (GRCm39)	missense	probably damaging	1.00
R6361:Zzef1	UTSW	11	72,775,175 (GRCm39)	missense	possibly damaging	0.93
R6451:Zzef1	UTSW	11	72,813,982 (GRCm39)	missense	possibly damaging	0.88
R6467:Zzef1	UTSW	11	72,802,090 (GRCm39)	critical splice donor site	probably null
R6484:Zzef1	UTSW	11	72,786,097 (GRCm39)	missense	probably damaging	1.00
R6493:Zzef1	UTSW	11	72,804,129 (GRCm39)	missense	probably benign	0.06
R6520:Zzef1	UTSW	11	72,716,891 (GRCm39)	missense	probably damaging	1.00
R6527:Zzef1	UTSW	11	72,765,816 (GRCm39)	missense	probably benign	0.00
R6540:Zzef1	UTSW	11	72,804,055 (GRCm39)	missense	probably damaging	1.00
R6608:Zzef1	UTSW	11	72,803,652 (GRCm39)	missense	probably damaging	1.00
R6795:Zzef1	UTSW	11	72,741,485 (GRCm39)	missense	probably benign	0.00
R6927:Zzef1	UTSW	11	72,803,983 (GRCm39)	missense	probably damaging	1.00
R6987:Zzef1	UTSW	11	72,746,340 (GRCm39)	missense	possibly damaging	0.89
R7048:Zzef1	UTSW	11	72,757,525 (GRCm39)	nonsense	probably null
R7076:Zzef1	UTSW	11	72,790,385 (GRCm39)	missense	probably benign	0.00
R7099:Zzef1	UTSW	11	72,763,475 (GRCm39)	missense	possibly damaging	0.92
R7132:Zzef1	UTSW	11	72,808,697 (GRCm39)	critical splice donor site	probably null
R7175:Zzef1	UTSW	11	72,742,727 (GRCm39)	missense	possibly damaging	0.49
R7284:Zzef1	UTSW	11	72,777,516 (GRCm39)	missense	probably damaging	0.99
R7300:Zzef1	UTSW	11	72,765,830 (GRCm39)	missense	probably benign	0.02
R7486:Zzef1	UTSW	11	72,755,612 (GRCm39)	missense	possibly damaging	0.85
R7503:Zzef1	UTSW	11	72,716,893 (GRCm39)	missense	probably damaging	1.00
R7679:Zzef1	UTSW	11	72,784,104 (GRCm39)	missense	probably benign
R7874:Zzef1	UTSW	11	72,750,479 (GRCm39)	missense	probably benign	0.01
R7898:Zzef1	UTSW	11	72,687,373 (GRCm39)	missense	probably damaging	1.00
R7928:Zzef1	UTSW	11	72,712,722 (GRCm39)	missense	probably damaging	0.99
R8021:Zzef1	UTSW	11	72,714,242 (GRCm39)	missense	probably damaging	0.99
R8145:Zzef1	UTSW	11	72,799,295 (GRCm39)	nonsense	probably null
R8255:Zzef1	UTSW	11	72,765,955 (GRCm39)	missense	probably benign	0.00
R8303:Zzef1	UTSW	11	72,808,015 (GRCm39)	missense	probably damaging	1.00
R8492:Zzef1	UTSW	11	72,777,572 (GRCm39)	missense	probably damaging	0.97
R8492:Zzef1	UTSW	11	72,763,430 (GRCm39)	missense	probably damaging	1.00
R8498:Zzef1	UTSW	11	72,744,148 (GRCm39)	missense	probably damaging	1.00
R8547:Zzef1	UTSW	11	72,735,267 (GRCm39)	missense	probably damaging	1.00
R8874:Zzef1	UTSW	11	72,754,815 (GRCm39)	missense	probably benign	0.00
R8885:Zzef1	UTSW	11	72,687,402 (GRCm39)	missense	probably benign	0.00
R8972:Zzef1	UTSW	11	72,791,499 (GRCm39)	missense	probably damaging	1.00
R8979:Zzef1	UTSW	11	72,766,003 (GRCm39)	missense	probably benign	0.00
R9053:Zzef1	UTSW	11	72,813,302 (GRCm39)	missense	probably benign
R9108:Zzef1	UTSW	11	72,790,604 (GRCm39)	missense	probably benign	0.11
R9121:Zzef1	UTSW	11	72,756,946 (GRCm39)	nonsense	probably null
R9253:Zzef1	UTSW	11	72,739,463 (GRCm39)	splice site	probably benign
R9370:Zzef1	UTSW	11	72,744,148 (GRCm39)	missense	probably damaging	1.00
R9408:Zzef1	UTSW	11	72,755,653 (GRCm39)	missense	possibly damaging	0.86
R9467:Zzef1	UTSW	11	72,807,251 (GRCm39)	missense	probably damaging	1.00
R9468:Zzef1	UTSW	11	72,814,009 (GRCm39)	critical splice donor site	probably null
R9563:Zzef1	UTSW	11	72,765,732 (GRCm39)	missense	probably damaging	1.00
R9647:Zzef1	UTSW	11	72,760,651 (GRCm39)	missense	probably benign	0.01
R9667:Zzef1	UTSW	11	72,758,786 (GRCm39)	missense	probably benign
R9742:Zzef1	UTSW	11	72,749,179 (GRCm39)	missense	probably benign
X0028:Zzef1	UTSW	11	72,797,805 (GRCm39)	missense	probably benign	0.29
Z1176:Zzef1	UTSW	11	72,687,354 (GRCm39)	missense	probably damaging	1.00
Z1177:Zzef1	UTSW	11	72,791,457 (GRCm39)	critical splice acceptor site	probably null
Z1177:Zzef1	UTSW	11	72,717,004 (GRCm39)	missense	probably damaging	1.00
Z1177:Zzef1	UTSW	11	72,687,138 (GRCm39)	missense	possibly damaging	0.91
Z1177:Zzef1	UTSW	11	72,806,146 (GRCm39)	missense	probably damaging	1.00
Z1186:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1187:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1188:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1189:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1190:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1191:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign
Z1192:Zzef1	UTSW	11	72,780,008 (GRCm39)	missense	probably benign

Posted On

2016-08-02