Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00898:Zzef1'

28474

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 #

IGL00898

Quality Score

Status

Chromosome

Chromosomal Location

72687052-72817946 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72765999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1509 (S1509P)

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: S1509P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670
AA Change: S1509P

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

probably benign
Transcript: ENSMUST00000172220
AA Change: S1509P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670
AA Change: S1509P

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: S1509P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,783,690 (GRCm39)	G956S	probably damaging	Het
Alpk2	G	T	18: 65,483,644 (GRCm39)	D121E	probably benign	Het
Apc	A	G	18: 34,450,147 (GRCm39)	T2314A	probably damaging	Het
Arhgef11	T	C	3: 87,636,810 (GRCm39)	L990P	probably damaging	Het
Ccar1	T	A	10: 62,589,013 (GRCm39)	K823N	unknown	Het
Celsr2	C	T	3: 108,321,195 (GRCm39)	R539H	possibly damaging	Het
Clca3b	A	G	3: 144,550,389 (GRCm39)		probably benign	Het
Cpxcr1	T	C	X: 115,387,407 (GRCm39)	L106S	possibly damaging	Het
Edc4	T	A	8: 106,607,755 (GRCm39)	L16Q	probably damaging	Het
Emc1	A	G	4: 139,098,941 (GRCm39)	E808G	probably damaging	Het
Epha6	A	T	16: 59,595,904 (GRCm39)		probably null	Het
Epha7	G	A	4: 28,938,693 (GRCm39)	R516Q	probably damaging	Het
Fancm	T	C	12: 65,152,774 (GRCm39)	S1077P	probably benign	Het
Gm4952	C	T	19: 12,595,772 (GRCm39)	T54I	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Il1b	T	C	2: 129,209,253 (GRCm39)	R126G	possibly damaging	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Lamb3	A	T	1: 193,021,191 (GRCm39)	T923S	possibly damaging	Het
Lrp6	C	T	6: 134,456,702 (GRCm39)	S854N	probably damaging	Het
Ltv1	A	G	10: 13,058,031 (GRCm39)	F258L	probably damaging	Het
Mcm3ap	T	C	10: 76,306,159 (GRCm39)	S91P	probably benign	Het
Msra	A	G	14: 64,360,774 (GRCm39)	I125T	probably damaging	Het
Nr0b1	A	T	X: 85,236,077 (GRCm39)	Q224L	probably benign	Het
Nr2e1	T	A	10: 42,444,449 (GRCm39)	D220V	probably damaging	Het
Nup160	C	A	2: 90,523,450 (GRCm39)	H351Q	probably damaging	Het
Or5b96	T	A	19: 12,867,282 (GRCm39)	M220L	probably benign	Het
Pcdh12	C	A	18: 38,414,510 (GRCm39)	V872L	probably benign	Het
Pcnx2	T	A	8: 126,614,324 (GRCm39)	S376C	probably damaging	Het
Pkd2	A	G	5: 104,631,001 (GRCm39)	E475G	probably damaging	Het
Psg22	A	G	7: 18,458,392 (GRCm39)	Y322C	probably damaging	Het
Rgl2	T	C	17: 34,152,392 (GRCm39)	I363T	possibly damaging	Het
Rimklb	G	T	6: 122,433,590 (GRCm39)	Q187K	possibly damaging	Het
Sectm1b	A	T	11: 120,947,075 (GRCm39)	W17R	probably damaging	Het
Snu13	C	A	15: 81,926,516 (GRCm39)	A60S	probably benign	Het
Sox30	T	A	11: 45,882,727 (GRCm39)	F586I	possibly damaging	Het
Tnfsfm13	C	A	11: 69,575,127 (GRCm39)	V220L	probably benign	Het
Ttn	A	T	2: 76,593,117 (GRCm39)	V20711E	probably damaging	Het
Vmn2r116	A	G	17: 23,604,969 (GRCm39)	N94S	possibly damaging	Het
Yipf2	T	C	9: 21,503,820 (GRCm39)		probably null	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
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
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

2013-04-17