Mutagenetix > Incidental Mutation

Incidental Mutation 'R5844:Zim1'

450591

Institutional Source

Beutler Lab

Gene Symbol

Zim1

Ensembl Gene

ENSMUSG00000002266

Gene Name

zinc finger, imprinted 1

Synonyms

MMRRC Submission

044062-MU

Accession Numbers

Essential gene?

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

Stock #

R5844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6677443-6699521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6681115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 183 (R183G)

Ref Sequence

ENSEMBL: ENSMUSP00000145453 (fasta)

Gene Model

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

AlphaFold

Q8C393

Predicted Effect

probably benign
Transcript: ENSMUST00000002336
AA Change: R183G

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000002336
Gene: ENSMUSG00000002266
AA Change: R183G

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 benign
Transcript: ENSMUST00000122432
AA Change: R183G

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113585
Gene: ENSMUSG00000002266
AA Change: R183G

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 benign
Transcript: ENSMUST00000203908
AA Change: R183G

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145453
Gene: ENSMUSG00000002266
AA Change: R183G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,950,065 (GRCm39)	M1321L	probably benign	Het
Adra1a	C	T	14: 66,965,183 (GRCm39)	T391I	probably benign	Het
Atf7ip	C	A	6: 136,583,812 (GRCm39)	A1281D	probably damaging	Het
BC005624	T	C	2: 30,866,023 (GRCm39)	N141S	probably benign	Het
Catsperg2	A	T	7: 29,397,257 (GRCm39)	L1082Q	possibly damaging	Het
Cavin2	C	T	1: 51,328,998 (GRCm39)	R152C	probably damaging	Het
Ccdc33	C	T	9: 57,940,489 (GRCm39)		probably benign	Het
Cfap43	T	C	19: 47,784,135 (GRCm39)	D466G	probably benign	Het
Cfap46	C	A	7: 139,230,858 (GRCm39)	M923I	probably damaging	Het
Chd1l	T	A	3: 97,479,883 (GRCm39)	K621N	probably benign	Het
Cnksr1	A	G	4: 133,955,575 (GRCm39)		probably benign	Het
Cym	T	C	3: 107,127,080 (GRCm39)	H25R	probably benign	Het
Dagla	T	A	19: 10,248,489 (GRCm39)	D57V	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dse	T	A	10: 34,029,038 (GRCm39)	D684V	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxo10	A	T	4: 45,058,760 (GRCm39)	S326T	probably benign	Het
Galntl5	G	T	5: 25,391,091 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,453,232 (GRCm39)	R290G	possibly damaging	Het
Gtpbp3	A	G	8: 71,945,199 (GRCm39)	T425A	probably benign	Het
Hepacam2	A	G	6: 3,476,073 (GRCm39)	I284T	probably damaging	Het
Ifi205	A	C	1: 173,854,258 (GRCm39)		probably null	Het
Irs3	T	C	5: 137,642,548 (GRCm39)	T297A	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Map4k4	T	A	1: 40,039,036 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,697,542 (GRCm39)	S782G	probably benign	Het
Mis18a	G	A	16: 90,523,969 (GRCm39)		silent	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Myom2	G	A	8: 15,181,182 (GRCm39)		probably null	Het
Ntaq1	A	G	15: 58,017,056 (GRCm39)	N157S	probably benign	Het
Or13a1	A	T	6: 116,470,900 (GRCm39)	E110V	probably damaging	Het
Or5g25	A	G	2: 85,478,239 (GRCm39)	V142A	probably benign	Het
Pde3b	C	T	7: 114,108,106 (GRCm39)	T568I	probably benign	Het
Pip4p1	T	C	14: 51,166,499 (GRCm39)	T160A	probably benign	Het
Pkhd1	G	T	1: 20,451,685 (GRCm39)	D2203E	probably benign	Het
Ppp1r36	A	G	12: 76,473,566 (GRCm39)	K66E	possibly damaging	Het
Rfc1	C	A	5: 65,451,130 (GRCm39)	M319I	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Runx1t1	T	C	4: 13,881,068 (GRCm39)	V456A	probably damaging	Het
Rxfp2	A	G	5: 149,966,589 (GRCm39)	K109R	probably benign	Het
Sgo2a	T	G	1: 58,055,556 (GRCm39)	V580G	probably damaging	Het
Skint9	T	C	4: 112,271,080 (GRCm39)	Q110R	probably benign	Het
Slc38a9	A	G	13: 112,868,035 (GRCm39)	Y507C	probably damaging	Het
Smarca4	T	A	9: 21,589,238 (GRCm39)		probably benign	Het
Tmem88	C	G	11: 69,288,504 (GRCm39)	Q138H	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tns3	A	C	11: 8,384,580 (GRCm39)	F1413V	probably damaging	Het
Trpm8	T	C	1: 88,312,433 (GRCm39)	*1105Q	probably null	Het
Zfp853	C	T	5: 143,274,424 (GRCm39)	V399M	unknown	Het
Zmiz1	T	C	14: 25,657,354 (GRCm39)	S871P	probably 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
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
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'- GGATTTGTGGAACTGCTCCTC -3'
(R):5'- CAGACATGAAACATGATTCTGCTC -3'

Sequencing Primer
(F):5'- GGAACTGCTCCTCATGGTCTG -3'
(R):5'- ACTCTAGGTCCAAGATATCTGGTGC -3'

Posted On

2016-12-20