Mutagenetix > Incidental Mutation

Incidental Mutation 'R6953:Zim1'

541308

Institutional Source

Beutler Lab

Gene Symbol

Zim1

Ensembl Gene

ENSMUSG00000002266

Gene Name

zinc finger, imprinted 1

Synonyms

MMRRC Submission

045065-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6677443-6699521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6690706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 40 (T40S)

Ref Sequence

ENSEMBL: ENSMUSP00000145453 (fasta)

Gene Model

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

AlphaFold

Q8C393

Predicted Effect

unknown
Transcript: ENSMUST00000002336
AA Change: T40S

SMART Domains

Protein: ENSMUSP00000002336
Gene: ENSMUSG00000002266
AA Change: T40S

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

unknown
Transcript: ENSMUST00000122432
AA Change: T40S

SMART Domains

Protein: ENSMUSP00000113585
Gene: ENSMUSG00000002266
AA Change: T40S

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

unknown
Transcript: ENSMUST00000203908
AA Change: T40S

SMART Domains

Protein: ENSMUSP00000145453
Gene: ENSMUSG00000002266
AA Change: T40S

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: 99.2%
20x: 97.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 57,892,223 (GRCm39)	S128I	probably damaging	Het
Aadacl2	A	C	3: 59,932,181 (GRCm39)	H232P	possibly damaging	Het
Abcc3	A	G	11: 94,265,661 (GRCm39)	Y125H	probably benign	Het
Adgrb3	A	G	1: 25,865,592 (GRCm39)	S84P	probably damaging	Het
Adgrd1	A	T	5: 129,192,142 (GRCm39)	K71*	probably null	Het
Ap2m1	T	A	16: 20,361,468 (GRCm39)	W381R	probably damaging	Het
Ascc3	A	G	10: 50,521,762 (GRCm39)	I426V	probably benign	Het
BC024063	T	A	10: 81,943,733 (GRCm39)	D31E	possibly damaging	Het
C3ar1	G	A	6: 122,827,591 (GRCm39)	H209Y	possibly damaging	Het
Ccp110	T	C	7: 118,321,644 (GRCm39)	V433A	possibly damaging	Het
Cfap54	A	G	10: 92,830,540 (GRCm39)	S1199P	probably benign	Het
Cyp24a1	T	G	2: 170,329,866 (GRCm39)	D362A	probably benign	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnmt1	G	T	9: 20,829,822 (GRCm39)	Q633K	probably benign	Het
Ercc4	T	A	16: 12,948,550 (GRCm39)	V499D	probably damaging	Het
Ier3ip1	C	G	18: 77,027,309 (GRCm39)	P46R	probably damaging	Het
Ifi211	T	C	1: 173,733,832 (GRCm39)	T110A	probably damaging	Het
Isoc1	A	G	18: 58,804,374 (GRCm39)	D134G	possibly damaging	Het
Kif26b	A	G	1: 178,701,637 (GRCm39)	D672G	possibly damaging	Het
Klhl33	T	A	14: 51,128,973 (GRCm39)	D752V	possibly damaging	Het
Lcn4	A	G	2: 26,559,367 (GRCm39)	Y133H	probably benign	Het
Mrs2	C	A	13: 25,185,771 (GRCm39)	V134L	probably benign	Het
Muc16	T	C	9: 18,551,825 (GRCm39)	T4823A	probably benign	Het
Ogfod3	A	G	11: 121,093,824 (GRCm39)	I62T	probably benign	Het
Or2m13	C	T	16: 19,226,278 (GRCm39)	V164I	probably benign	Het
Or2y10	A	G	11: 49,455,117 (GRCm39)	Y123C	probably damaging	Het
Or6c204	A	T	10: 129,022,474 (GRCm39)	M272K	probably benign	Het
Or7e175	A	T	9: 20,049,299 (GRCm39)	I296L	probably benign	Het
Papln	G	A	12: 83,828,659 (GRCm39)	W788*	probably null	Het
Pcdhac2	A	G	18: 37,277,479 (GRCm39)	Q153R	probably benign	Het
Pcdhgb2	C	T	18: 37,823,807 (GRCm39)	T266I	possibly damaging	Het
Pcdhgc5	C	A	18: 37,953,514 (GRCm39)	R263S	possibly damaging	Het
Phactr4	T	C	4: 132,104,662 (GRCm39)	T185A	possibly damaging	Het
Plcxd2	T	C	16: 45,800,882 (GRCm39)	D114G	probably damaging	Het
Polr2a	A	T	11: 69,632,537 (GRCm39)	I987N	probably damaging	Het
Prl3d3	A	G	13: 27,345,029 (GRCm39)	M134V	probably benign	Het
Pum2	T	A	12: 8,778,779 (GRCm39)		probably null	Het
Racgap1	T	C	15: 99,524,210 (GRCm39)	E399G	probably damaging	Het
Sbspon	A	T	1: 15,930,519 (GRCm39)	S156T	probably damaging	Het
Scn1a	T	C	2: 66,149,813 (GRCm39)	T927A	probably damaging	Het
Sec23ip	C	A	7: 128,354,520 (GRCm39)	S78*	probably null	Het
Serpina1d	G	A	12: 103,733,989 (GRCm39)	T105I	probably benign	Het
Slc25a21	T	A	12: 57,205,954 (GRCm39)	N26Y	probably benign	Het
Smim20	T	A	5: 53,435,258 (GRCm39)	D64E	probably damaging	Het
Spag17	T	G	3: 99,942,291 (GRCm39)	I772S	possibly damaging	Het
Tars2	T	C	3: 95,660,426 (GRCm39)	T99A	possibly damaging	Het
Tdrd1	C	T	19: 56,819,803 (GRCm39)	T101I	probably damaging	Het
Tldc2	T	G	2: 156,931,198 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Ush2a	A	G	1: 187,995,342 (GRCm39)	R38G	possibly damaging	Het
Usp19	T	C	9: 108,376,130 (GRCm39)	L991P	possibly damaging	Het
Vmn2r109	G	A	17: 20,760,973 (GRCm39)	P795S	possibly damaging	Het
Vmn2r26	T	C	6: 124,016,741 (GRCm39)	Y402H	probably benign	Het
Vmn2r-ps117	T	G	17: 19,045,095 (GRCm39)	I504R	probably benign	Het
Zfp551	A	T	7: 12,150,715 (GRCm39)	C231*	probably null	Het
Zfp607a	T	A	7: 27,577,790 (GRCm39)	C287S	possibly damaging	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
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
R8350:Zim1	UTSW	7	6,685,064 (GRCm39)	missense	probably damaging	0.99
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'- TGAAGTTGGTGTCATCCTACC -3'
(R):5'- GTCAACTACCTGCCTGGAATG -3'

Sequencing Primer
(F):5'- TGTCATCCTACCAGAGATGGG -3'
(R):5'- CTACCTGCCTGGAATGTAGTACAG -3'

Posted On

2018-11-28