Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Zfp106'

216031

Institutional Source

Beutler Lab

Gene Symbol

Zfp106

Ensembl Gene

ENSMUSG00000027288

Gene Name

zinc finger protein 106

Synonyms

Cd-1, H3a, Sh3bp3, sirm

MMRRC Submission

038334-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120337301-120394324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120362094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1008 (K1008N)

Ref Sequence

ENSEMBL: ENSMUSP00000128995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055241] [ENSMUST00000135625] [ENSMUST00000171215]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000055241
AA Change: K1031N

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

SMART Domains

Protein: ENSMUSP00000055602
Gene: ENSMUSG00000027288
AA Change: K1031N

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

probably benign
Transcript: ENSMUST00000135625

SMART Domains

Protein: ENSMUSP00000126939
Gene: ENSMUSG00000027288

Domain	Start	End	E-Value	Type
ZnF_C2H2	5	29	1.51e0	SMART
low complexity region	53	67	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149210

Predicted Effect

unknown
Transcript: ENSMUST00000163384
AA Change: K148N

Predicted Effect

probably benign
Transcript: ENSMUST00000167241

SMART Domains

Protein: ENSMUSP00000127803
Gene: ENSMUSG00000027288

Domain	Start	End	E-Value	Type
ZnF_C2H2	4	28	1.51e0	SMART
low complexity region	74	85	N/A	INTRINSIC
low complexity region	132	145	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171215
AA Change: K1008N

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

SMART Domains

Protein: ENSMUSP00000128995
Gene: ENSMUSG00000027288
AA Change: K1008N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181963

Meta Mutation Damage Score

0.1089

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.6%

Validation Efficiency

100% (88/88)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Antxr2	G	A	5: 98,086,284 (GRCm39)	T441I	possibly damaging	Het
Apcs	A	G	1: 172,722,023 (GRCm39)	Y108H	probably benign	Het
Atad5	A	G	11: 79,988,840 (GRCm39)	T666A	probably benign	Het
Atcay	C	T	10: 81,046,353 (GRCm39)		probably null	Het
Bahcc1	A	G	11: 120,159,196 (GRCm39)	D141G	probably damaging	Het
Ceacam10	A	G	7: 24,477,689 (GRCm39)	Y68C	probably damaging	Het
Cfap54	T	A	10: 92,812,901 (GRCm39)	Q1344L	probably benign	Het
Cyb5r4	A	G	9: 86,948,795 (GRCm39)		probably null	Het
Cyp2b9	G	T	7: 25,872,899 (GRCm39)	S14I	possibly damaging	Het
Dusp12	A	G	1: 170,708,226 (GRCm39)	Y164H	probably damaging	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Fat1	A	G	8: 45,479,441 (GRCm39)	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,691,371 (GRCm39)	T671A	probably damaging	Het
Fbxo28	G	T	1: 182,153,805 (GRCm39)		probably benign	Het
Fbxo44	A	G	4: 148,243,152 (GRCm39)	L89P	probably damaging	Het
Fndc3b	T	A	3: 27,610,266 (GRCm39)		probably null	Het
Gm9955	G	T	18: 24,842,209 (GRCm39)		probably benign	Het
Gprc6a	T	A	10: 51,491,080 (GRCm39)	K819*	probably null	Het
Gxylt1	A	T	15: 93,152,436 (GRCm39)		probably benign	Het
Hspa12a	T	C	19: 58,788,056 (GRCm39)	T589A	probably benign	Het
Idh2	A	G	7: 79,747,570 (GRCm39)	S317P	probably damaging	Het
Ifi30	T	C	8: 71,216,421 (GRCm39)		probably null	Het
Ifna16	G	A	4: 88,594,867 (GRCm39)	A76V	probably benign	Het
Itpr2	C	T	6: 146,246,638 (GRCm39)	E1127K	probably damaging	Het
Kank4	A	G	4: 98,667,457 (GRCm39)	V330A	probably benign	Het
Kpna1	T	A	16: 35,843,611 (GRCm39)	D328E	probably damaging	Het
Krt71	T	A	15: 101,646,868 (GRCm39)	H280L	possibly damaging	Het
Lrrc37	G	A	11: 103,433,816 (GRCm39)	P942S	probably damaging	Het
Mapt	A	G	11: 104,196,224 (GRCm39)	M446V	probably damaging	Het
Med1	C	T	11: 98,057,081 (GRCm39)		probably null	Het
Mif	T	A	10: 75,695,614 (GRCm39)	H63L	probably damaging	Het
Mycbp2	A	G	14: 103,461,708 (GRCm39)	V1447A	probably benign	Het
Myo1b	A	T	1: 51,821,148 (GRCm39)	I451N	probably damaging	Het
Nme2	A	T	11: 93,842,756 (GRCm39)		probably null	Het
Nubp1	A	G	16: 10,238,981 (GRCm39)	T199A	probably damaging	Het
Nup210l	T	A	3: 90,089,212 (GRCm39)	V1165D	probably damaging	Het
Nup98	T	A	7: 101,841,241 (GRCm39)	T122S	probably damaging	Het
Or14a258	A	T	7: 86,035,715 (GRCm39)	L51Q	probably benign	Het
Or1n2	T	C	2: 36,797,470 (GRCm39)	F171L	probably damaging	Het
Or5j1	C	T	2: 86,879,548 (GRCm39)	E11K	probably damaging	Het
Or6c202	T	A	10: 128,996,608 (GRCm39)	I82L	probably benign	Het
Pard3b	A	T	1: 62,676,979 (GRCm39)	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,661,665 (GRCm39)	D536G	probably damaging	Het
Phrf1	G	T	7: 140,823,770 (GRCm39)	R196L	probably damaging	Het
Plxna2	G	T	1: 194,326,204 (GRCm39)	R46L	probably benign	Het
Rbm39	G	A	2: 155,990,099 (GRCm39)	T496I	possibly damaging	Het
Rpl14	C	G	9: 120,401,167 (GRCm39)	F3L	possibly damaging	Het
Rtf2	G	A	2: 172,286,616 (GRCm39)	S40N	probably damaging	Het
Runx2	G	A	17: 44,919,141 (GRCm39)	S481L	possibly damaging	Het
Sh3rf1	T	A	8: 61,782,286 (GRCm39)	Y143N	possibly damaging	Het
Siglec15	G	A	18: 78,092,092 (GRCm39)		probably benign	Het
Slc4a8	T	A	15: 100,687,727 (GRCm39)	I288N	probably damaging	Het
Ttc38	C	A	15: 85,725,690 (GRCm39)	F184L	probably damaging	Het
Vmn1r28	T	C	6: 58,242,879 (GRCm39)	Y241H	probably damaging	Het
Vmn2r110	A	T	17: 20,816,346 (GRCm39)	V59D	probably benign	Het
Wdpcp	A	G	11: 21,661,638 (GRCm39)	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,743,678 (GRCm39)	A483T	probably benign	Het
Zfp334	A	G	2: 165,223,492 (GRCm39)	Y184H	probably benign	Het
Zfp68	G	A	5: 138,606,041 (GRCm39)	T94I	probably benign	Het
Zkscan3	A	T	13: 21,579,090 (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
IGL02798:Zfp106	APN	2	120,340,991 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGAATTACTGCTGGGAGACCAC -3'
(R):5'- CATAATGCCTGTCATGCATTCAGCC -3'

Sequencing Primer
(F):5'- AGAGATGACTTCACACTTTCCTGG -3'
(R):5'- TGCATTCAGCCCGAGAC -3'

Posted On

2014-07-17