Mutagenetix > Incidental Mutation

Incidental Mutation 'R8350:Zim1'

660218

Institutional Source

Beutler Lab

Gene Symbol

Zim1

Ensembl Gene

ENSMUSG00000002266

Gene Name

zinc finger, imprinted 1

Synonyms

MMRRC Submission

067868-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R8350 (G1)

Quality Score

201.009

Status

Validated

Chromosome

Chromosomal Location

6677443-6699521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6685064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 129 (S129C)

Ref Sequence

ENSEMBL: ENSMUSP00000145453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002336] [ENSMUST00000122432] [ENSMUST00000203908]

AlphaFold

Q8C393

Predicted Effect

probably damaging
Transcript: ENSMUST00000002336
AA Change: S129C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002336
Gene: ENSMUSG00000002266
AA Change: S129C

Domain	Start	End	E-Value	Type
KRAB	50	110	5.78e-29	SMART
low complexity region	189	203	N/A	INTRINSIC
low complexity region	215	234	N/A	INTRINSIC
ZnF_C2H2	269	291	5.59e-4	SMART
ZnF_C2H2	297	319	2.05e-2	SMART
ZnF_C2H2	325	347	1.4e-4	SMART
ZnF_C2H2	353	375	8.6e-5	SMART
ZnF_C2H2	381	403	8.47e-4	SMART
ZnF_C2H2	409	431	2.71e-2	SMART
ZnF_C2H2	437	459	6.88e-4	SMART
ZnF_C2H2	465	487	6.32e-3	SMART
ZnF_C2H2	493	515	1.56e-2	SMART
ZnF_C2H2	521	543	3.95e-4	SMART
ZnF_C2H2	549	571	7.49e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122432
AA Change: S129C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113585
Gene: ENSMUSG00000002266
AA Change: S129C

Domain	Start	End	E-Value	Type
KRAB	50	110	5.78e-29	SMART
low complexity region	189	203	N/A	INTRINSIC
low complexity region	215	234	N/A	INTRINSIC
ZnF_C2H2	269	291	5.59e-4	SMART
ZnF_C2H2	297	319	2.05e-2	SMART
ZnF_C2H2	325	347	1.4e-4	SMART
ZnF_C2H2	353	375	8.6e-5	SMART
ZnF_C2H2	381	403	8.47e-4	SMART
ZnF_C2H2	409	431	2.71e-2	SMART
ZnF_C2H2	437	459	6.88e-4	SMART
ZnF_C2H2	465	487	6.32e-3	SMART
ZnF_C2H2	493	515	1.56e-2	SMART
ZnF_C2H2	521	543	3.95e-4	SMART
ZnF_C2H2	549	571	7.49e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203908
AA Change: S129C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145453
Gene: ENSMUSG00000002266
AA Change: S129C

Domain	Start	End	E-Value	Type
KRAB	50	110	5.78e-29	SMART
low complexity region	189	203	N/A	INTRINSIC
low complexity region	215	234	N/A	INTRINSIC
ZnF_C2H2	269	291	5.59e-4	SMART
ZnF_C2H2	297	319	2.05e-2	SMART
ZnF_C2H2	325	347	1.4e-4	SMART
ZnF_C2H2	353	375	8.6e-5	SMART
ZnF_C2H2	381	403	8.47e-4	SMART
ZnF_C2H2	409	431	2.71e-2	SMART
ZnF_C2H2	437	459	6.88e-4	SMART
ZnF_C2H2	465	487	6.32e-3	SMART
ZnF_C2H2	493	515	1.56e-2	SMART
ZnF_C2H2	521	543	3.95e-4	SMART
ZnF_C2H2	549	571	7.49e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	G	T	5: 8,978,578 (GRCm39)		probably null	Het
Adam29	A	G	8: 56,325,224 (GRCm39)	V410A	possibly damaging	Het
Adamts3	T	C	5: 89,850,815 (GRCm39)	T575A	probably damaging	Het
Ankmy1	T	C	1: 92,804,353 (GRCm39)	K877E	possibly damaging	Het
Arpin	A	T	7: 79,581,615 (GRCm39)	I35N	possibly damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcas1	T	C	2: 170,248,220 (GRCm39)	N234D	possibly damaging	Het
Clca3a2	C	T	3: 144,783,668 (GRCm39)	G649E	probably benign	Het
Cnot2	A	T	10: 116,322,181 (GRCm39)	L516Q	probably damaging	Het
Ctdp1	C	A	18: 80,512,494 (GRCm39)	V90L	probably benign	Het
Cyb5b	A	G	8: 107,896,552 (GRCm39)	Y91C	possibly damaging	Het
Cystm1	T	C	18: 36,526,303 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,327,231 (GRCm39)	Q727K	probably damaging	Het
Dpf3	G	A	12: 83,397,625 (GRCm39)	R80C	probably damaging	Het
Ehmt2	C	T	17: 35,127,667 (GRCm39)	T882M	probably damaging	Het
Fam136a	A	G	6: 86,345,795 (GRCm39)	K104R	probably benign	Het
Fcgbp	T	C	7: 27,793,614 (GRCm39)	V1172A	probably benign	Het
Foxc1	C	T	13: 31,991,548 (GRCm39)	Q120*	probably null	Het
Grin1	G	A	2: 25,188,323 (GRCm39)	R448C	probably damaging	Het
Igsf10	G	A	3: 59,238,949 (GRCm39)	P411S	probably damaging	Het
Irgq	T	A	7: 24,233,165 (GRCm39)	D335E	probably benign	Het
Kndc1	A	G	7: 139,503,960 (GRCm39)	Y1088C	probably damaging	Het
Llgl1	A	G	11: 60,602,947 (GRCm39)	E874G	probably damaging	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Lyst	T	A	13: 13,824,973 (GRCm39)	C1529*	probably null	Het
Mau2	A	T	8: 70,495,242 (GRCm39)	Y32N	probably damaging	Het
Mios	T	A	6: 8,227,998 (GRCm39)	N638K	probably benign	Het
Mki67	A	T	7: 135,300,200 (GRCm39)	D1611E	possibly damaging	Het
Mroh2a	G	A	1: 88,171,805 (GRCm39)		probably null	Het
Nek5	A	G	8: 22,603,688 (GRCm39)	V138A	probably damaging	Het
Opcml	A	T	9: 28,813,463 (GRCm39)	E251D	probably benign	Het
Or13c7e-ps1	T	A	4: 43,782,175 (GRCm39)	I52F	probably benign	Het
Or1j14	T	A	2: 36,418,176 (GRCm39)	Y251N	probably damaging	Het
Or1o1	A	T	17: 37,717,260 (GRCm39)	M274L	probably benign	Het
Pde1b	A	T	15: 103,411,901 (GRCm39)	M1L	probably benign	Het
Pias1	G	A	9: 62,859,266 (GRCm39)	H72Y	probably damaging	Het
Postn	G	A	3: 54,277,679 (GRCm39)	V225I	probably damaging	Het
Prickle2	A	G	6: 92,353,483 (GRCm39)	V661A	probably benign	Het
Ptpn1	T	A	2: 167,816,161 (GRCm39)	F225Y	probably damaging	Het
Ptprd	C	T	4: 75,868,898 (GRCm39)	V1425M	probably damaging	Het
Rbfox1	C	A	16: 7,094,954 (GRCm39)	S111R	probably benign	Het
Rbm24	T	C	13: 46,572,676 (GRCm39)		probably null	Het
Rlf	T	G	4: 121,027,954 (GRCm39)	K224T	probably damaging	Het
Scgb2b3	G	A	7: 31,061,485 (GRCm39)	L5F	probably damaging	Het
Sdr42e2	T	C	7: 120,419,873 (GRCm39)	L206P	probably damaging	Het
Serpinb9g	A	G	13: 33,676,854 (GRCm39)	E212G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,257,146 (GRCm39)	Y524C	probably damaging	Het
Sh3pxd2a	C	A	19: 47,258,277 (GRCm39)	E475D	probably null	Het
Skil	A	G	3: 31,151,603 (GRCm39)	T42A	probably benign	Het
Sorcs2	A	G	5: 36,311,207 (GRCm39)	V203A	probably damaging	Het
Sugp2	C	T	8: 70,695,641 (GRCm39)	R205*	probably null	Het
Tle1	C	A	4: 72,057,203 (GRCm39)		probably benign	Het
Tmem63c	T	A	12: 87,119,660 (GRCm39)	L318Q	probably damaging	Het
Txnrd1	A	G	10: 82,717,759 (GRCm39)	I248V	probably benign	Het
Vmn2r79	T	A	7: 86,686,741 (GRCm39)	C707*	probably null	Het
Xdh	C	T	17: 74,241,837 (GRCm39)	G154D	probably damaging	Het
Xirp2	T	A	2: 67,355,713 (GRCm39)	D3491E	probably benign	Het
Yjefn3	A	G	8: 70,341,869 (GRCm39)	L77P	probably damaging	Het
Zer1	C	T	2: 29,991,862 (GRCm39)	E653K	probably damaging	Het
Zfyve27	T	C	19: 42,167,911 (GRCm39)	V151A	probably benign	Het

Other mutations in Zim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Zim1	APN	7	6,685,759 (GRCm39)	missense	possibly damaging	0.95
IGL01921:Zim1	APN	7	6,685,184 (GRCm39)	splice site	probably benign
IGL02116:Zim1	APN	7	6,681,253 (GRCm39)	missense	probably benign	0.00
IGL02252:Zim1	APN	7	6,691,627 (GRCm39)	missense	unknown
IGL02354:Zim1	APN	7	6,685,873 (GRCm39)	splice site	probably null
IGL02361:Zim1	APN	7	6,685,873 (GRCm39)	splice site	probably null
IGL03025:Zim1	APN	7	6,685,058 (GRCm39)	missense	probably benign	0.00
R0003:Zim1	UTSW	7	6,679,947 (GRCm39)	missense	probably benign	0.01
R1347:Zim1	UTSW	7	6,680,430 (GRCm39)	missense	probably damaging	1.00
R1347:Zim1	UTSW	7	6,680,430 (GRCm39)	missense	probably damaging	1.00
R1483:Zim1	UTSW	7	6,685,124 (GRCm39)	missense	probably benign	0.00
R2106:Zim1	UTSW	7	6,681,073 (GRCm39)	missense	probably benign	0.02
R2315:Zim1	UTSW	7	6,680,067 (GRCm39)	missense	possibly damaging	0.86
R2508:Zim1	UTSW	7	6,680,430 (GRCm39)	small insertion	probably benign
R2508:Zim1	UTSW	7	6,680,429 (GRCm39)	small insertion	probably benign
R3706:Zim1	UTSW	7	6,680,290 (GRCm39)	missense	probably damaging	0.97
R3975:Zim1	UTSW	7	6,680,129 (GRCm39)	missense	probably damaging	1.00
R5524:Zim1	UTSW	7	6,680,320 (GRCm39)	missense	probably benign	0.34
R5557:Zim1	UTSW	7	6,680,710 (GRCm39)	missense	probably damaging	1.00
R5843:Zim1	UTSW	7	6,680,697 (GRCm39)	missense	possibly damaging	0.59
R5844:Zim1	UTSW	7	6,681,115 (GRCm39)	missense	probably benign	0.21
R5882:Zim1	UTSW	7	6,685,737 (GRCm39)	critical splice donor site	probably null
R6828:Zim1	UTSW	7	6,680,688 (GRCm39)	missense	probably damaging	1.00
R6953:Zim1	UTSW	7	6,690,706 (GRCm39)	missense	unknown
R7080:Zim1	UTSW	7	6,680,305 (GRCm39)	missense	possibly damaging	0.92
R7148:Zim1	UTSW	7	6,681,220 (GRCm39)	missense	possibly damaging	0.91
R7199:Zim1	UTSW	7	6,680,872 (GRCm39)	nonsense	probably null
R7332:Zim1	UTSW	7	6,680,352 (GRCm39)	missense	probably damaging	1.00
R7462:Zim1	UTSW	7	6,680,811 (GRCm39)	missense	probably damaging	1.00
R9480:Zim1	UTSW	7	6,681,050 (GRCm39)	missense	probably benign	0.20
R9510:Zim1	UTSW	7	6,690,739 (GRCm39)	nonsense	probably null
R9761:Zim1	UTSW	7	6,680,771 (GRCm39)	missense	probably damaging	1.00
Z1088:Zim1	UTSW	7	6,680,658 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AGTTCTGCAGTTACCCTGTTG -3'
(R):5'- ACCTCTATGTTCCAGCTGATTG -3'

Sequencing Primer
(F):5'- TGAAGATGTAGAACTCTCAGCTCCTC -3'
(R):5'- GGCATGCAAAAGTGTTTCTTCTTC -3'

Posted On

2021-01-18