Mutagenetix > Incidental Mutation

Incidental Mutation 'R9175:Zfp106'

696605

Institutional Source

Beutler Lab

Gene Symbol

Zfp106

Ensembl Gene

ENSMUSG00000027288

Gene Name

zinc finger protein 106

Synonyms

Cd-1, H3a, Sh3bp3, sirm

MMRRC Submission

068948-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9175 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120337301-120394324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120353197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1554 (A1554E)

Ref Sequence

ENSEMBL: ENSMUSP00000055602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055241] [ENSMUST00000152347] [ENSMUST00000171215]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000055241
AA Change: A1554E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055602
Gene: ENSMUSG00000027288
AA Change: A1554E

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 damaging
Transcript: ENSMUST00000152347
AA Change: A260E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132902
Gene: ENSMUSG00000027288
AA Change: A260E

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	143	163	N/A	INTRINSIC
Pfam:WD40	234	265	1.3e-5	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171215
AA Change: A1531E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128995
Gene: ENSMUSG00000027288
AA Change: A1531E

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	A	7: 12,249,412 (GRCm39)	D82N	probably benign	Het
Abca13	A	G	11: 9,531,593 (GRCm39)	K4607E	probably damaging	Het
Agpat4	G	C	17: 12,417,669 (GRCm39)	G70A	probably damaging	Het
Ank2	G	A	3: 126,722,402 (GRCm39)	T1017I	possibly damaging	Het
C2cd2	T	C	16: 97,678,421 (GRCm39)	I339V	probably benign	Het
Cacna1a	A	T	8: 85,296,644 (GRCm39)	N1221Y	probably damaging	Het
Cacna1e	A	G	1: 154,274,314 (GRCm39)	V2197A	probably damaging	Het
Ccdc74a	T	C	16: 17,468,042 (GRCm39)	S101P	probably benign	Het
Cdh13	A	T	8: 119,968,968 (GRCm39)	I442F	probably damaging	Het
Cnot2	A	T	10: 116,334,051 (GRCm39)	M373K	possibly damaging	Het
Coch	C	A	12: 51,645,060 (GRCm39)	H205N	possibly damaging	Het
Col6a4	A	G	9: 105,957,560 (GRCm39)	V88A	probably benign	Het
Erich3	A	G	3: 154,419,601 (GRCm39)	T35A	probably benign	Het
Gm28360	A	T	1: 117,781,328 (GRCm39)	K106N	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspg2	T	C	4: 137,256,657 (GRCm39)	F1467L	probably damaging	Het
Ighg2c	T	C	12: 113,252,499 (GRCm39)	T18A		Het
Iqcm	A	G	8: 76,710,867 (GRCm39)	K472E	possibly damaging	Het
Kcnk5	A	T	14: 20,192,117 (GRCm39)	V348D	probably benign	Het
Kcns3	C	T	12: 11,169,801 (GRCm39)		probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Muc5ac	A	G	7: 141,366,093 (GRCm39)	D2787G	possibly damaging	Het
Nasp	A	G	4: 116,471,576 (GRCm39)	C84R	probably damaging	Het
Nfia	G	A	4: 97,671,362 (GRCm39)	R24H	probably damaging	Het
Opa3	C	T	7: 18,989,466 (GRCm39)	R110C	probably damaging	Het
Or2t48	T	C	11: 58,420,590 (GRCm39)	D74G	probably damaging	Het
Or8k25	A	G	2: 86,244,099 (GRCm39)	I99T	probably benign	Het
Pdia4	A	C	6: 47,775,417 (GRCm39)	S464R	possibly damaging	Het
Rab3gap2	A	G	1: 185,009,360 (GRCm39)	D1092G	probably damaging	Het
Rev3l	A	G	10: 39,730,764 (GRCm39)	K2763E	possibly damaging	Het
Sanbr	A	T	11: 23,534,518 (GRCm39)		probably null	Het
Sorbs1	A	T	19: 40,315,018 (GRCm39)	L598Q	probably damaging	Het
Sppl2b	A	T	10: 80,698,807 (GRCm39)	M154L	probably benign	Het
Stk33	A	G	7: 108,920,724 (GRCm39)	I331T	probably damaging	Het
Strip2	A	G	6: 29,933,035 (GRCm39)	E494G	probably benign	Het
Supt6	C	T	11: 78,112,052 (GRCm39)	R1010Q	possibly damaging	Het
Tada1	G	A	1: 166,210,005 (GRCm39)	R69H	probably damaging	Het
Tent4a	A	G	13: 69,663,915 (GRCm39)	L268P	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tomm34	A	G	2: 163,912,385 (GRCm39)		probably null	Het
Tpi1	T	C	6: 124,788,871 (GRCm39)	T223A	probably damaging	Het
Trpc3	T	A	3: 36,709,279 (GRCm39)	N399I	probably benign	Het
Vgll2	A	G	10: 51,903,635 (GRCm39)	H166R	probably damaging	Het
Vmn2r107	A	T	17: 20,577,051 (GRCm39)	I350F	possibly damaging	Het
Vmn2r114	T	A	17: 23,527,212 (GRCm39)	K440M	probably damaging	Het
Vmn2r55	T	C	7: 12,385,793 (GRCm39)	Y729C	possibly damaging	Het
Zfyve27	A	G	19: 42,169,997 (GRCm39)	Y176C	probably damaging	Het
Zswim5	T	A	4: 116,822,941 (GRCm39)	N470K	probably benign	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
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
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'- GACACTACAGGTTCCTCTCAG -3'
(R):5'- ACGGTTTTGAGTGCCTCAGC -3'

Sequencing Primer
(F):5'- GTTCCTCTCAGAACCACATTTAAGG -3'
(R):5'- GCAGACATGTCTCTGAAACCTGTTTG -3'

Posted On

2022-02-07