Mutagenetix > Incidental Mutation

Incidental Mutation 'R9572:Zfp106'

722038

Institutional Source

Beutler Lab

Gene Symbol

Zfp106

Ensembl Gene

ENSMUSG00000027288

Gene Name

zinc finger protein 106

Synonyms

Cd-1, H3a, Sh3bp3, sirm

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9572 (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 A at 120349559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1644 (T1644I)

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: T1644I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000055602
Gene: ENSMUSG00000027288
AA Change: T1644I

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: ENSMUST00000152347

SMART Domains

Protein: ENSMUSP00000132902
Gene: ENSMUSG00000027288

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: T1621I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128995
Gene: ENSMUSG00000027288
AA Change: T1621I

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

0.4760

Coding Region Coverage

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,748,477 (GRCm39)	S1083P	probably damaging	Het
Aldh6a1	C	A	12: 84,487,017 (GRCm39)	R140L	probably damaging	Het
Aldoart1	T	A	4: 72,770,770 (GRCm39)	M13L	probably benign	Het
Anapc1	G	T	2: 128,505,976 (GRCm39)	T620K	probably benign	Het
Ano1	T	A	7: 144,204,293 (GRCm39)		probably null	Het
Apol9a	C	T	15: 77,288,804 (GRCm39)	A188T	probably benign	Het
Ash1l	A	G	3: 88,960,188 (GRCm39)	K2307E	probably damaging	Het
Astn2	A	T	4: 65,299,872 (GRCm39)	S1292R	unknown	Het
Asxl3	T	A	18: 22,649,112 (GRCm39)	V367D	probably benign	Het
B3gnt7	T	A	1: 86,233,492 (GRCm39)	L246Q	probably damaging	Het
B4gat1	T	G	19: 5,089,474 (GRCm39)	L157R	probably damaging	Het
Bag4	A	T	8: 26,258,303 (GRCm39)	Y341*	probably null	Het
Bccip	G	A	7: 133,322,478 (GRCm39)	D275N	probably damaging	Het
Cd109	T	A	9: 78,567,588 (GRCm39)	F267I	probably benign	Het
Cfap221	T	A	1: 119,873,566 (GRCm39)	D487V	probably damaging	Het
Chpt1	T	C	10: 88,316,806 (GRCm39)	I217M	probably damaging	Het
Clock	T	C	5: 76,377,338 (GRCm39)	T654A	probably benign	Het
Ctsr	A	G	13: 61,310,978 (GRCm39)	S23P	probably benign	Het
Dst	T	A	1: 34,250,252 (GRCm39)	Y2055N	probably damaging	Het
F7	A	T	8: 13,083,953 (GRCm39)	I213F	probably benign	Het
Grb14	A	G	2: 64,763,680 (GRCm39)	Y232H	probably damaging	Het
Gsg1l2	A	G	11: 67,677,301 (GRCm39)	N190S	probably benign	Het
Hrnr	A	G	3: 93,239,467 (GRCm39)	Y3235C	unknown	Het
Iws1	T	A	18: 32,203,257 (GRCm39)	S44R	probably damaging	Het
Kif26b	A	T	1: 178,745,042 (GRCm39)	T1713S	probably benign	Het
Lama4	C	T	10: 38,959,271 (GRCm39)	R1230C	probably damaging	Het
Lrrcc1	G	A	3: 14,601,148 (GRCm39)	W60*	probably null	Het
Mcur1	A	G	13: 43,713,433 (GRCm39)	F57S	probably benign	Het
Mrc1	T	C	2: 14,234,334 (GRCm39)	L4P	probably benign	Het
Msh5	T	C	17: 35,250,369 (GRCm39)	Y548C	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nckap5	T	A	1: 125,955,454 (GRCm39)	N366I	probably benign	Het
Nr4a3	T	A	4: 48,051,258 (GRCm39)	V4E	probably damaging	Het
Nuak1	C	A	10: 84,228,179 (GRCm39)	V175L	probably damaging	Het
Or2ag13	A	G	7: 106,313,546 (GRCm39)	L114P	probably damaging	Het
Or5b106	T	A	19: 13,123,928 (GRCm39)	I32F	possibly damaging	Het
Or5w1	A	G	2: 87,486,914 (GRCm39)	V117A	probably benign	Het
Or8b49	A	T	9: 38,505,627 (GRCm39)	I37L	probably benign	Het
Phactr2	C	T	10: 13,264,561 (GRCm39)		probably benign	Het
Pomk	T	C	8: 26,472,936 (GRCm39)	D339G	possibly damaging	Het
Ppp2r5e	A	T	12: 75,562,468 (GRCm39)	Y88N	probably benign	Het
Ptma	T	A	1: 86,457,697 (GRCm39)	V100E	unknown	Het
Rab3b	T	C	4: 108,786,725 (GRCm39)		probably null	Het
Rp1	G	A	1: 4,418,662 (GRCm39)	H817Y	probably benign	Het
Rpn1	T	A	6: 88,078,994 (GRCm39)	I479N	probably damaging	Het
Sdk1	G	A	5: 141,595,784 (GRCm39)	G147R	probably damaging	Het
Serpina3i	C	A	12: 104,234,743 (GRCm39)	T358K	probably damaging	Het
Siglecf	A	G	7: 43,002,058 (GRCm39)	K231R	possibly damaging	Het
Skint6	C	T	4: 112,985,128 (GRCm39)	V413I	probably benign	Het
Spata7	T	C	12: 98,614,655 (GRCm39)	C96R	probably damaging	Het
Sptbn4	A	T	7: 27,066,095 (GRCm39)	V1991E	probably benign	Het
Sstr2	A	G	11: 113,516,017 (GRCm39)	Y312C	probably damaging	Het
Taco1	T	A	11: 105,963,938 (GRCm39)	D232E	possibly damaging	Het
Tcerg1l	C	T	7: 137,881,787 (GRCm39)	A301T	probably benign	Het
Tmub2	T	A	11: 102,176,541 (GRCm39)	M11K		Het
Trpc6	T	A	9: 8,656,622 (GRCm39)	V761D	possibly damaging	Het
Ttll13	A	T	7: 79,908,008 (GRCm39)	N510I	probably benign	Het
Vcpip1	T	C	1: 9,816,770 (GRCm39)	N538D	possibly damaging	Het
Vmn2r100	A	T	17: 19,741,513 (GRCm39)	Y75F	probably benign	Het
Vwa5a	A	G	9: 38,649,239 (GRCm39)	I662M	probably benign	Het
Xkr5	A	G	8: 18,984,166 (GRCm39)	S459P	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
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
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'- GTAAGGCTGCACTTTGGTCC -3'
(R):5'- AGATAGTCTACTGTGTGCTTTTCAG -3'

Sequencing Primer
(F):5'- CCTAGCATATGTGAGTCTGAGCAG -3'
(R):5'- TTTCAGACCCGAGAGTGT -3'

Posted On

2022-08-09