Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02798:Zfp106'

360059

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp106

Ensembl Gene

ENSMUSG00000027288

Gene Name

zinc finger protein 106

Synonyms

Cd-1, H3a, Sh3bp3, sirm

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02798

Quality Score

Status

Chromosome

Chromosomal Location

120337301-120394324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120340991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1840 (T1840A)

Ref Sequence

ENSEMBL: ENSMUSP00000128995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055241] [ENSMUST00000171215]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000055241
AA Change: T1863A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055602
Gene: ENSMUSG00000027288
AA Change: T1863A

Domain	Start	End	E-Value	Type
ZnF_C2H2	5	29	1.51e0	SMART
ZnF_C2H2	43	67	7.18e1	SMART
low complexity region	75	92	N/A	INTRINSIC
low complexity region	141	152	N/A	INTRINSIC
low complexity region	199	212	N/A	INTRINSIC
low complexity region	466	480	N/A	INTRINSIC
coiled coil region	800	823	N/A	INTRINSIC
low complexity region	842	856	N/A	INTRINSIC
low complexity region	1049	1062	N/A	INTRINSIC
low complexity region	1312	1321	N/A	INTRINSIC
low complexity region	1361	1373	N/A	INTRINSIC
low complexity region	1389	1409	N/A	INTRINSIC
WD40	1525	1562	9.24e-4	SMART
WD40	1565	1607	1.83e-7	SMART
PQQ	1587	1618	3.42e2	SMART
WD40	1651	1691	3.45e-1	SMART
PQQ	1671	1702	9.14e1	SMART
WD40	1694	1731	2.12e-3	SMART
PQQ	1711	1742	6.42e0	SMART
WD40	1734	1771	6e-3	SMART
PQQ	1751	1782	5.7e2	SMART
WD40	1774	1811	3.58e-1	SMART
ZnF_C2H2	1818	1843	5.34e-1	SMART
ZnF_C2H2	1851	1879	1.31e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130303

Predicted Effect

probably damaging
Transcript: ENSMUST00000171215
AA Change: T1840A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128995
Gene: ENSMUSG00000027288
AA Change: T1840A

Domain	Start	End	E-Value	Type
ZnF_C2H2	20	44	7.18e1	SMART
low complexity region	52	69	N/A	INTRINSIC
low complexity region	118	129	N/A	INTRINSIC
low complexity region	176	189	N/A	INTRINSIC
low complexity region	443	457	N/A	INTRINSIC
coiled coil region	777	800	N/A	INTRINSIC
low complexity region	819	833	N/A	INTRINSIC
low complexity region	1026	1039	N/A	INTRINSIC
low complexity region	1289	1298	N/A	INTRINSIC
low complexity region	1338	1350	N/A	INTRINSIC
low complexity region	1366	1386	N/A	INTRINSIC
WD40	1502	1539	9.24e-4	SMART
WD40	1542	1584	1.83e-7	SMART
PQQ	1564	1595	3.42e2	SMART
WD40	1628	1668	3.45e-1	SMART
PQQ	1648	1679	9.14e1	SMART
WD40	1671	1708	2.12e-3	SMART
PQQ	1688	1719	6.42e0	SMART
WD40	1711	1748	6e-3	SMART
PQQ	1728	1759	5.7e2	SMART
WD40	1751	1788	3.58e-1	SMART
ZnF_C2H2	1795	1820	5.34e-1	SMART
ZnF_C2H2	1828	1856	1.31e2	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit an abnormal gait, progressive motor deficits, kyphosis, weight loss, severe adult-onset degenerative sensory-motor axonopathy, mitochondrial dysfunction, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,277,724 (GRCm39)	C514S	probably damaging	Het
Alcam	A	G	16: 52,126,002 (GRCm39)	I105T	probably damaging	Het
Arhgef10l	A	T	4: 140,292,441 (GRCm39)		probably null	Het
Arhgef17	A	G	7: 100,578,833 (GRCm39)	V705A	probably benign	Het
C87436	T	A	6: 86,423,184 (GRCm39)	C253S	probably benign	Het
Cbx7	T	C	15: 79,802,600 (GRCm39)	T226A	probably damaging	Het
Cdh20	T	C	1: 104,875,190 (GRCm39)	I324T	probably damaging	Het
Celsr3	A	T	9: 108,720,774 (GRCm39)	H2608L	probably damaging	Het
Cramp1	A	G	17: 25,187,894 (GRCm39)		probably benign	Het
Ddx25	A	G	9: 35,462,693 (GRCm39)	C231R	probably damaging	Het
Emilin2	A	G	17: 71,563,690 (GRCm39)		probably benign	Het
Hip1r	T	C	5: 124,132,775 (GRCm39)		probably benign	Het
Insrr	C	T	3: 87,717,824 (GRCm39)	P842S	probably damaging	Het
Lama1	G	T	17: 68,102,186 (GRCm39)		probably benign	Het
Lig3	T	C	11: 82,686,531 (GRCm39)		probably benign	Het
Lrp4	C	A	2: 91,307,055 (GRCm39)	T392K	probably benign	Het
Msl2	G	T	9: 100,957,430 (GRCm39)	R33S	probably benign	Het
Nrde2	T	A	12: 100,110,081 (GRCm39)	K317*	probably null	Het
Nub1	C	A	5: 24,897,812 (GRCm39)	A42D	probably damaging	Het
Obox2	T	C	7: 15,130,807 (GRCm39)	V13A	possibly damaging	Het
Or13p3	T	C	4: 118,566,696 (GRCm39)	F31L	probably damaging	Het
Or4k5	T	A	14: 50,385,835 (GRCm39)	K165N	probably benign	Het
Or5ac20	A	T	16: 59,104,478 (GRCm39)	C127*	probably null	Het
Phkb	T	C	8: 86,770,406 (GRCm39)	Y892H	probably benign	Het
Ptdss1	A	G	13: 67,124,824 (GRCm39)	Y341C	probably damaging	Het
Ripor2	A	T	13: 24,858,649 (GRCm39)	D147V	probably damaging	Het
Scn7a	T	C	2: 66,544,219 (GRCm39)	D424G	probably benign	Het
Scn9a	C	T	2: 66,370,903 (GRCm39)	R559Q	possibly damaging	Het
Sctr	G	A	1: 119,949,910 (GRCm39)	C33Y	probably damaging	Het
Sh2b2	G	T	5: 136,250,817 (GRCm39)	A419E	probably damaging	Het
Slc22a30	A	T	19: 8,347,449 (GRCm39)	M317K	probably damaging	Het
Slc39a4	T	C	15: 76,499,382 (GRCm39)	S178G	probably benign	Het
Slc7a12	T	A	3: 14,546,217 (GRCm39)	C121S	probably damaging	Het
Slmap	T	C	14: 26,191,533 (GRCm39)	S148G	possibly damaging	Het
Tent5a	A	T	9: 85,206,937 (GRCm39)	V287E	probably damaging	Het
Tktl2	A	G	8: 66,965,963 (GRCm39)	K507R	probably benign	Het
Ttn	T	G	2: 76,586,207 (GRCm39)	K21841N	probably damaging	Het
Ugcg	T	C	4: 59,220,346 (GRCm39)	Y380H	probably damaging	Het
Zmynd8	T	C	2: 165,694,070 (GRCm39)		probably null	Het

Other mutations in Zfp106

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Zfp106	APN	2	120,369,978 (GRCm39)	missense	probably benign	0.45
IGL00816:Zfp106	APN	2	120,357,329 (GRCm39)	missense	probably benign	0.02
IGL00822:Zfp106	APN	2	120,344,641 (GRCm39)	missense	probably damaging	1.00
IGL00848:Zfp106	APN	2	120,343,208 (GRCm39)	missense	probably damaging	1.00
IGL01293:Zfp106	APN	2	120,365,516 (GRCm39)	missense	possibly damaging	0.92
IGL01323:Zfp106	APN	2	120,354,945 (GRCm39)	missense	possibly damaging	0.74
IGL01662:Zfp106	APN	2	120,354,034 (GRCm39)	missense	probably benign	0.17
IGL01683:Zfp106	APN	2	120,355,036 (GRCm39)	missense	probably benign	0.00
IGL01809:Zfp106	APN	2	120,364,152 (GRCm39)	missense	probably damaging	1.00
IGL01958:Zfp106	APN	2	120,365,288 (GRCm39)	missense	probably benign	0.26
IGL01960:Zfp106	APN	2	120,369,803 (GRCm39)	missense	probably benign	0.08
IGL01960:Zfp106	APN	2	120,354,524 (GRCm39)	missense	probably damaging	0.99
IGL02168:Zfp106	APN	2	120,364,712 (GRCm39)	missense	possibly damaging	0.90
IGL02623:Zfp106	APN	2	120,376,395 (GRCm39)	splice site	probably null
IGL02828:Zfp106	APN	2	120,362,178 (GRCm39)	missense	possibly damaging	0.86
IGL03022:Zfp106	APN	2	120,359,120 (GRCm39)	splice site	probably benign
IGL03308:Zfp106	APN	2	120,354,505 (GRCm39)	missense	probably benign	0.00
IGL03324:Zfp106	APN	2	120,365,868 (GRCm39)	missense	probably benign	0.01
lepton	UTSW	2	120,362,585 (GRCm39)	missense	probably damaging	0.98
Proton	UTSW	2	120,341,015 (GRCm39)	missense	probably damaging	1.00
quark	UTSW	2	120,365,541 (GRCm39)	nonsense	probably null
R0040_zfp106_031	UTSW	2	120,362,094 (GRCm39)	missense	probably damaging	1.00
string	UTSW	2	120,364,075 (GRCm39)	missense	probably damaging	0.96
theory	UTSW	2	120,364,158 (GRCm39)	nonsense	probably null
R0040:Zfp106	UTSW	2	120,362,094 (GRCm39)	missense	probably damaging	1.00
R0040:Zfp106	UTSW	2	120,362,094 (GRCm39)	missense	probably damaging	1.00
R0135:Zfp106	UTSW	2	120,350,968 (GRCm39)	missense	probably damaging	0.99
R0180:Zfp106	UTSW	2	120,364,356 (GRCm39)	missense	probably damaging	0.96
R0387:Zfp106	UTSW	2	120,358,953 (GRCm39)	splice site	probably null
R0558:Zfp106	UTSW	2	120,362,677 (GRCm39)	missense	probably damaging	1.00
R0680:Zfp106	UTSW	2	120,357,497 (GRCm39)	missense	probably damaging	1.00
R0729:Zfp106	UTSW	2	120,385,729 (GRCm39)	missense	probably damaging	0.99
R0828:Zfp106	UTSW	2	120,366,084 (GRCm39)	missense	probably benign	0.00
R1124:Zfp106	UTSW	2	120,365,195 (GRCm39)	missense	probably benign	0.00
R1147:Zfp106	UTSW	2	120,351,017 (GRCm39)	missense	probably damaging	1.00
R1147:Zfp106	UTSW	2	120,351,017 (GRCm39)	missense	probably damaging	1.00
R1226:Zfp106	UTSW	2	120,354,560 (GRCm39)	missense	probably damaging	1.00
R1239:Zfp106	UTSW	2	120,364,075 (GRCm39)	missense	probably damaging	0.96
R1634:Zfp106	UTSW	2	120,364,158 (GRCm39)	nonsense	probably null
R1754:Zfp106	UTSW	2	120,364,245 (GRCm39)	missense	probably damaging	0.98
R1754:Zfp106	UTSW	2	120,364,244 (GRCm39)	missense	probably damaging	0.96
R1755:Zfp106	UTSW	2	120,365,656 (GRCm39)	missense	probably damaging	1.00
R1763:Zfp106	UTSW	2	120,350,909 (GRCm39)	missense	probably benign	0.03
R1875:Zfp106	UTSW	2	120,344,096 (GRCm39)	critical splice donor site	probably null
R1903:Zfp106	UTSW	2	120,357,329 (GRCm39)	missense	probably benign	0.02
R1932:Zfp106	UTSW	2	120,362,162 (GRCm39)	missense	possibly damaging	0.80
R2070:Zfp106	UTSW	2	120,354,010 (GRCm39)	missense	probably benign	0.11
R2301:Zfp106	UTSW	2	120,366,131 (GRCm39)	missense	probably benign	0.04
R3429:Zfp106	UTSW	2	120,357,544 (GRCm39)	missense	probably benign	0.00
R3720:Zfp106	UTSW	2	120,365,080 (GRCm39)	missense	probably benign	0.01
R3875:Zfp106	UTSW	2	120,365,094 (GRCm39)	missense	probably benign	0.08
R3881:Zfp106	UTSW	2	120,362,630 (GRCm39)	missense	probably benign	0.01
R3921:Zfp106	UTSW	2	120,364,097 (GRCm39)	missense	probably damaging	1.00
R3923:Zfp106	UTSW	2	120,365,337 (GRCm39)	missense	probably damaging	0.99
R4087:Zfp106	UTSW	2	120,357,380 (GRCm39)	splice site	probably null
R4678:Zfp106	UTSW	2	120,364,221 (GRCm39)	missense	probably damaging	1.00
R4965:Zfp106	UTSW	2	120,364,400 (GRCm39)	missense	probably damaging	0.98
R5011:Zfp106	UTSW	2	120,341,015 (GRCm39)	missense	probably damaging	1.00
R5013:Zfp106	UTSW	2	120,341,015 (GRCm39)	missense	probably damaging	1.00
R5151:Zfp106	UTSW	2	120,365,208 (GRCm39)	missense	probably benign	0.01
R5227:Zfp106	UTSW	2	120,354,449 (GRCm39)	missense	probably benign	0.11
R5328:Zfp106	UTSW	2	120,350,898 (GRCm39)	missense	possibly damaging	0.73
R5403:Zfp106	UTSW	2	120,365,262 (GRCm39)	missense	probably benign	0.02
R5624:Zfp106	UTSW	2	120,362,438 (GRCm39)	missense	probably damaging	0.99
R5686:Zfp106	UTSW	2	120,363,988 (GRCm39)	splice site	probably null
R5691:Zfp106	UTSW	2	120,354,952 (GRCm39)	missense	probably damaging	0.99
R5852:Zfp106	UTSW	2	120,346,487 (GRCm39)	missense	probably damaging	1.00
R6032:Zfp106	UTSW	2	120,365,874 (GRCm39)	missense	probably benign	0.00
R6032:Zfp106	UTSW	2	120,365,874 (GRCm39)	missense	probably benign	0.00
R6298:Zfp106	UTSW	2	120,353,185 (GRCm39)	missense	probably damaging	1.00
R6409:Zfp106	UTSW	2	120,362,585 (GRCm39)	missense	probably damaging	0.98
R6505:Zfp106	UTSW	2	120,364,983 (GRCm39)	missense	probably damaging	0.99
R6598:Zfp106	UTSW	2	120,365,541 (GRCm39)	nonsense	probably null
R6765:Zfp106	UTSW	2	120,369,935 (GRCm39)	missense	probably damaging	0.96
R7013:Zfp106	UTSW	2	120,362,113 (GRCm39)	missense	probably damaging	0.99
R7453:Zfp106	UTSW	2	120,376,400 (GRCm39)	splice site	probably null
R7453:Zfp106	UTSW	2	120,341,008 (GRCm39)	missense	probably damaging	1.00
R7643:Zfp106	UTSW	2	120,343,215 (GRCm39)	missense	probably benign	0.01
R7829:Zfp106	UTSW	2	120,354,538 (GRCm39)	missense	possibly damaging	0.94
R7897:Zfp106	UTSW	2	120,366,096 (GRCm39)	nonsense	probably null
R7909:Zfp106	UTSW	2	120,344,700 (GRCm39)	missense	probably damaging	1.00
R8054:Zfp106	UTSW	2	120,355,000 (GRCm39)	missense	possibly damaging	0.93
R8124:Zfp106	UTSW	2	120,354,812 (GRCm39)	missense	probably benign	0.44
R8203:Zfp106	UTSW	2	120,349,559 (GRCm39)	missense	probably damaging	1.00
R8350:Zfp106	UTSW	2	120,366,099 (GRCm39)	missense
R8450:Zfp106	UTSW	2	120,366,099 (GRCm39)	missense
R8698:Zfp106	UTSW	2	120,354,600 (GRCm39)	critical splice donor site	probably null
R8985:Zfp106	UTSW	2	120,366,077 (GRCm39)	missense
R9015:Zfp106	UTSW	2	120,364,019 (GRCm39)	missense	probably damaging	1.00
R9036:Zfp106	UTSW	2	120,369,906 (GRCm39)	missense	probably damaging	1.00
R9142:Zfp106	UTSW	2	120,350,935 (GRCm39)	missense	probably damaging	1.00
R9154:Zfp106	UTSW	2	120,364,812 (GRCm39)	nonsense	probably null
R9175:Zfp106	UTSW	2	120,353,197 (GRCm39)	missense	probably damaging	1.00
R9529:Zfp106	UTSW	2	120,351,007 (GRCm39)	missense	probably damaging	0.97
R9572:Zfp106	UTSW	2	120,349,559 (GRCm39)	missense	probably damaging	1.00
R9581:Zfp106	UTSW	2	120,365,807 (GRCm39)	missense
RF008:Zfp106	UTSW	2	120,355,026 (GRCm39)	small deletion	probably benign
RF025:Zfp106	UTSW	2	120,355,026 (GRCm39)	small deletion	probably benign
X0025:Zfp106	UTSW	2	120,365,297 (GRCm39)	missense	probably benign
Z1088:Zfp106	UTSW	2	120,360,971 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18