Mutagenetix > Incidental Mutation

Incidental Mutation 'R0094:Zzef1'

16531

Institutional Source

Beutler Lab

Gene Symbol

Zzef1

Ensembl Gene

ENSMUSG00000055670

Gene Name

zinc finger, ZZ-type with EF hand domain 1

Synonyms

8430405D05Rik, C130099L13Rik

MMRRC Submission

038380-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0094 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

72687052-72817946 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72708791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 130 (T130I)

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
AA Change: T130I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670
AA Change: T130I

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: ENSMUST00000150551

Predicted Effect

probably benign
Transcript: ENSMUST00000172220
AA Change: T130I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670
AA Change: T130I

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
AA Change: T130I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.1064

Coding Region Coverage

1x: 84.5%
3x: 75.9%
10x: 43.5%
20x: 12.9%

Validation Efficiency

86% (51/59)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,203,427 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,260,236 (GRCm39)		noncoding transcript	Het
4931429L15Rik	T	A	9: 46,218,184 (GRCm39)	T185S	possibly damaging	Het
Ahnak	T	A	19: 8,991,257 (GRCm39)	D4180E	probably benign	Het
Amotl1	A	G	9: 14,486,683 (GRCm39)	S441P	probably benign	Het
Ankrd12	A	T	17: 66,277,171 (GRCm39)	D2034E	probably damaging	Het
B3gnt2	T	C	11: 22,786,655 (GRCm39)	R178G	probably damaging	Het
Colgalt1	T	C	8: 72,075,802 (GRCm39)	V483A	probably damaging	Het
Ctsj	A	C	13: 61,151,519 (GRCm39)		probably null	Het
Dap3	T	A	3: 88,834,335 (GRCm39)	M294L	probably benign	Het
Ddias	T	C	7: 92,509,108 (GRCm39)	N269S	possibly damaging	Het
Dsg2	A	T	18: 20,724,910 (GRCm39)	T439S	probably benign	Het
Eif2b1	A	G	5: 124,709,829 (GRCm39)	F250L	probably benign	Het
Emc1	T	A	4: 139,087,796 (GRCm39)	F100Y	probably damaging	Het
Hfm1	T	A	5: 107,065,344 (GRCm39)	M112L	probably benign	Het
Lipg	T	C	18: 75,078,917 (GRCm39)	Y445C	probably benign	Het
Lrp1b	T	C	2: 41,172,042 (GRCm39)		probably benign	Het
Ltbp2	A	G	12: 84,846,200 (GRCm39)	Y897H	probably damaging	Het
Mfap5	G	A	6: 122,502,951 (GRCm39)	V54I	probably damaging	Het
Mvd	C	T	8: 123,166,442 (GRCm39)	R65H	probably benign	Het
Mybpc2	A	G	7: 44,166,328 (GRCm39)	Y221H	probably damaging	Het
Nbeal1	T	A	1: 60,344,468 (GRCm39)	I2323N	possibly damaging	Het
Or14c40	A	G	7: 86,313,502 (GRCm39)	S211G	probably benign	Het
Otol1	G	A	3: 69,926,016 (GRCm39)	A64T	probably benign	Het
Pcdh8	G	T	14: 80,005,588 (GRCm39)	D933E	probably damaging	Het
Pkd1	A	G	17: 24,800,250 (GRCm39)	T3004A	possibly damaging	Het
Pkhd1	T	A	1: 20,279,470 (GRCm39)	R2949S	probably damaging	Het
Ptpro	T	C	6: 137,363,350 (GRCm39)	Y495H	probably benign	Het
Rad54b	T	C	4: 11,599,681 (GRCm39)	V72A	possibly damaging	Het
Ranbp3	A	G	17: 57,016,338 (GRCm39)		probably benign	Het
Rpa2	T	C	4: 132,497,893 (GRCm39)	S52P	probably damaging	Het
Serping1	T	G	2: 84,603,620 (GRCm39)	R140S	probably benign	Het
Slc34a2	T	C	5: 53,221,310 (GRCm39)	F252S	probably benign	Het
Spata45	A	G	1: 190,772,059 (GRCm39)		probably benign	Het
Sptan1	T	C	2: 29,896,635 (GRCm39)	S1174P	probably benign	Het
Ss18l2	T	C	9: 121,541,699 (GRCm39)	L64P	probably benign	Het
Tmem81	A	G	1: 132,435,787 (GRCm39)	I198V	probably benign	Het
Trappc9	A	T	15: 72,894,929 (GRCm38)		probably benign	Het
Ubr3	C	T	2: 69,781,706 (GRCm39)	T628I	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
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
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

2013-01-20