Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02950:Zzef1'

364939

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 #

IGL02950

Quality Score

Status

Chromosome

Chromosomal Location

72687052-72817946 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 72808525 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: ENSMUST00000125122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152481

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,814,406 (GRCm39)	S1129C	possibly damaging	Het
Afm	A	T	5: 90,679,466 (GRCm39)	D320V	probably damaging	Het
Ap5m1	C	T	14: 49,311,392 (GRCm39)	T154I	probably benign	Het
Bcl11b	G	A	12: 107,956,065 (GRCm39)	T28I	probably benign	Het
Bhlhe40	G	T	6: 108,641,503 (GRCm39)	C149F	probably damaging	Het
Bmper	A	T	9: 23,310,790 (GRCm39)	D408V	probably damaging	Het
C1rl	G	A	6: 124,485,820 (GRCm39)	C397Y	probably damaging	Het
C2cd4c	A	G	10: 79,448,665 (GRCm39)	S161P	probably damaging	Het
Cemip2	A	T	19: 21,819,564 (GRCm39)	K1118N	probably benign	Het
Cep290	T	C	10: 100,376,191 (GRCm39)		probably benign	Het
Cp	T	C	3: 20,042,165 (GRCm39)	Y978H	probably damaging	Het
Csf2ra	T	C	19: 61,215,607 (GRCm39)	D37G	probably benign	Het
Ddx24	A	G	12: 103,383,801 (GRCm39)	V596A	probably damaging	Het
Dnmt3l	A	G	10: 77,886,785 (GRCm39)	S82G	probably benign	Het
Dock1	A	G	7: 134,331,753 (GRCm39)	Y46C	probably damaging	Het
Eno2	A	T	6: 124,740,081 (GRCm39)	D318E	probably damaging	Het
Gm43738	A	C	3: 88,996,355 (GRCm39)	L120R	probably damaging	Het
Hgsnat	C	A	8: 26,461,729 (GRCm39)	C29F	probably damaging	Het
Hltf	T	A	3: 20,130,736 (GRCm39)	V318D	probably benign	Het
Kcnh8	A	G	17: 53,263,795 (GRCm39)	H764R	probably benign	Het
Kcnq3	A	G	15: 65,892,142 (GRCm39)	F411S	probably benign	Het
Lpcat4	C	A	2: 112,074,387 (GRCm39)	N287K	possibly damaging	Het
Ltbp4	A	C	7: 27,006,143 (GRCm39)	F1512V	probably damaging	Het
Mctp1	A	T	13: 77,172,929 (GRCm39)	L868F	probably damaging	Het
Mdn1	T	C	4: 32,713,360 (GRCm39)		probably benign	Het
Or5g23	A	T	2: 85,438,501 (GRCm39)	L251Q	possibly damaging	Het
Otub2	A	G	12: 103,369,632 (GRCm39)	D237G	probably damaging	Het
Pax3	A	G	1: 78,079,997 (GRCm39)	V463A	probably benign	Het
Podn	T	C	4: 107,875,048 (GRCm39)	K573R	possibly damaging	Het
Ppp5c	A	C	7: 16,740,835 (GRCm39)	S378A	probably benign	Het
Pramel29	A	G	4: 143,939,531 (GRCm39)	V2A	probably benign	Het
Prl2a1	T	A	13: 27,988,914 (GRCm39)	L13Q	probably damaging	Het
Ptgir	A	G	7: 16,641,526 (GRCm39)	T70A	probably damaging	Het
Ralyl	C	A	3: 14,104,781 (GRCm39)	N15K	probably damaging	Het
Rbck1	C	T	2: 152,172,997 (GRCm39)	R17Q	possibly damaging	Het
Ryr1	A	G	7: 28,796,884 (GRCm39)	Y973H	probably damaging	Het
Sh2d6	A	G	6: 72,492,285 (GRCm39)	V260A	probably damaging	Het
Spen	G	A	4: 141,196,819 (GRCm39)	P3559S	probably damaging	Het
Tbcd	T	A	11: 121,494,535 (GRCm39)	V1032D	probably damaging	Het
Trav12-1	T	A	14: 53,776,024 (GRCm39)	V59E	probably damaging	Het
Unc93a	T	A	17: 13,344,455 (GRCm39)	Q29L	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
IGL02953:Zzef1	APN	11	72,746,224 (GRCm39)	missense	probably benign
IGL03053:Zzef1	APN	11	72,722,365 (GRCm39)	splice site	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

2015-12-18