Mutagenetix > Incidental Mutation

Incidental Mutation 'R7643:Zfp106'

590332

Institutional Source

Beutler Lab

Gene Symbol

Zfp106

Ensembl Gene

ENSMUSG00000027288

Gene Name

zinc finger protein 106

Synonyms

Cd-1, H3a, Sh3bp3, sirm

MMRRC Submission

045700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120337301-120394324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120343215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 1811 (R1811K)

Ref Sequence

ENSEMBL: ENSMUSP00000055602 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000055241
AA Change: R1811K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000055602
Gene: ENSMUSG00000027288
AA Change: R1811K

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: ENSMUST00000171215
AA Change: R1788K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128995
Gene: ENSMUSG00000027288
AA Change: R1788K

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

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	G	9: 15,209,156 (GRCm39)	F46S	probably damaging	Het
Acaca	T	C	11: 84,229,182 (GRCm39)	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,030,795 (GRCm39)	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,491,449 (GRCm39)	Q1050L	probably benign	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,363,911 (GRCm39)	V395A	probably benign	Het
Ap3b2	T	C	7: 81,126,820 (GRCm39)	K310R	probably benign	Het
Bnc2	T	C	4: 84,424,811 (GRCm39)	D123G	probably benign	Het
Bst1	G	A	5: 43,997,791 (GRCm39)	M263I	probably benign	Het
Ccdc7a	C	T	8: 129,616,292 (GRCm39)	G937E	probably damaging	Het
Cep290	A	G	10: 100,373,415 (GRCm39)	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,481,323 (GRCm39)	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,641,973 (GRCm39)	H1203L	probably benign	Het
Emc7	A	G	2: 112,285,624 (GRCm39)	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,388,369 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,672,924 (GRCm39)	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,107,536 (GRCm39)	V180L	probably benign	Het
Gbp2b	G	T	3: 142,309,370 (GRCm39)	Q160H	probably benign	Het
Gm19965	C	G	1: 116,749,959 (GRCm39)	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,810,114 (GRCm39)	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,538,179 (GRCm39)	Y303*	probably null	Het
Greb1	T	C	12: 16,761,997 (GRCm39)	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950 (GRCm39)	N36S	probably benign	Het
Hacd1	T	C	2: 14,049,602 (GRCm39)	I119V	probably damaging	Het
Ing5	T	A	1: 93,740,155 (GRCm39)	D101E	probably damaging	Het
Irak4	T	A	15: 94,456,709 (GRCm39)	N297K	probably benign	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Klf5	A	G	14: 99,550,614 (GRCm39)	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,869,024 (GRCm39)	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,473,564 (GRCm39)		probably null	Het
Marchf4	T	G	1: 72,486,379 (GRCm39)	Q266H	probably damaging	Het
Med23	A	G	10: 24,781,863 (GRCm39)	T1056A	probably benign	Het
Megf11	T	C	9: 64,613,914 (GRCm39)	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,583,701 (GRCm39)	L85I	probably benign	Het
Nlgn2	G	T	11: 69,718,711 (GRCm39)	Q290K	probably damaging	Het
Nox4	A	T	7: 86,972,962 (GRCm39)	E323V	probably damaging	Het
Nup93	T	C	8: 95,013,247 (GRCm39)		probably null	Het
Or10d5b	T	A	9: 39,886,117 (GRCm39)	M1L	unknown	Het
Or14a257	C	T	7: 86,138,776 (GRCm39)		probably null	Het
Or51e1	C	T	7: 102,358,745 (GRCm39)	T93I	probably benign	Het
Otop3	T	C	11: 115,230,474 (GRCm39)	L117P	probably damaging	Het
Pde6c	C	A	19: 38,129,869 (GRCm39)	Q260K	probably damaging	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Qser1	A	T	2: 104,617,322 (GRCm39)	Y1163*	probably null	Het
Rbm12	A	T	2: 155,940,137 (GRCm39)	I45N	unknown	Het
Rictor	T	A	15: 6,798,750 (GRCm39)	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325 (GRCm38)	S83*	probably null	Het
Sel1l3	C	T	5: 53,280,504 (GRCm39)		probably null	Het
Setd2	T	C	9: 110,396,908 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,143,319 (GRCm39)	T759A	probably benign	Het
Spon2	T	A	5: 33,374,800 (GRCm39)	E2V	probably benign	Het
Tdrd1	T	C	19: 56,826,140 (GRCm39)	S144P	probably damaging	Het
Tex15	A	C	8: 34,065,148 (GRCm39)	Y1526S	probably damaging	Het
Tex55	A	G	16: 38,648,225 (GRCm39)	Y295H	probably benign	Het
Tnfrsf21	T	C	17: 43,348,807 (GRCm39)	S140P	probably benign	Het
Trav6-2	T	A	14: 52,904,899 (GRCm39)	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,078,295 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,565,171 (GRCm39)	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,214,899 (GRCm39)	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333 (GRCm39)	S211T	probably benign	Het
Zcchc4	T	C	5: 52,965,635 (GRCm39)	I313T	possibly damaging	Het
Zfp599	G	T	9: 22,161,188 (GRCm39)	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,043,452 (GRCm39)	M108K	probably damaging	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
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
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'- CTGTGTATTCTTCCAACATGAAGC -3'
(R):5'- GGAACATTGAAGCCTGCCATC -3'

Sequencing Primer
(F):5'- CAACATGAAGCTTGTCTGCC -3'
(R):5'- GAAGCCTGCCATCCTTGCTG -3'

Posted On

2019-10-24