Mutagenetix > Incidental Mutation

Incidental Mutation 'R7332:Zim1'

569296

Institutional Source

Beutler Lab

Gene Symbol

Zim1

Ensembl Gene

ENSMUSG00000002266

Gene Name

zinc finger, imprinted 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6671269-6696450 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6677353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 437 (Y437C)

Ref Sequence

ENSEMBL: ENSMUSP00000002336 (fasta)

Gene Model

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

AlphaFold

Q8C393

Predicted Effect

probably damaging
Transcript: ENSMUST00000002336
AA Change: Y437C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002336
Gene: ENSMUSG00000002266
AA Change: Y437C

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: Y437C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113585
Gene: ENSMUSG00000002266
AA Change: Y437C

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: Y437C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145453
Gene: ENSMUSG00000002266
AA Change: Y437C

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	A	G	19: 56,918,121	S449P	probably damaging	Het
Atp6v0c	A	C	17: 24,169,224	S21A	probably benign	Het
Cacna1e	T	C	1: 154,725,801	Y40C	possibly damaging	Het
Cdadc1	A	G	14: 59,575,764	I398T	possibly damaging	Het
Cfap44	T	A	16: 44,429,828	D756E	probably damaging	Het
Clcnkb	A	T	4: 141,413,932	L104Q	probably null	Het
Clk1	G	A	1: 58,412,694	H421Y	probably benign	Het
Cmpk2	A	T	12: 26,478,062	D426V	probably damaging	Het
Cmya5	A	G	13: 93,092,553	L2009S	possibly damaging	Het
Col5a2	C	G	1: 45,380,165	D1252H	probably damaging	Het
Coro1b	A	G	19: 4,149,357	K5R	probably benign	Het
Csmd2	A	G	4: 128,419,567	T1346A		Het
Csrp1	G	T	1: 135,739,411	W4L	probably benign	Het
Cyp3a25	A	G	5: 145,993,007	I184T	probably damaging	Het
Egfl7	C	A	2: 26,590,713	R128S	probably benign	Het
Fggy	A	T	4: 95,623,482	N157I	probably damaging	Het
Gldc	A	T	19: 30,116,526	L697Q	probably damaging	Het
Gm10436	T	C	12: 88,176,417	T339A	possibly damaging	Het
Gm4952	T	A	19: 12,627,009	Y262N	probably damaging	Het
Gsap	T	A	5: 21,290,121	M821K	probably benign	Het
Hps1	T	C	19: 42,777,912		probably null	Het
Hsbp1l1	T	C	18: 80,236,823		probably benign	Het
Igfbp7	G	A	5: 77,351,956	T220I	probably damaging	Het
Ints3	T	C	3: 90,415,512	Q137R	probably damaging	Het
Kcna6	A	G	6: 126,739,329	F199S	possibly damaging	Het
Kirrel	T	C	3: 87,088,398	I410V	probably benign	Het
Llgl2	T	C	11: 115,848,299	V332A	probably damaging	Het
Lrrc27	A	G	7: 139,242,745	I517M	probably damaging	Het
Mas1	T	C	17: 12,842,219	T106A	probably benign	Het
Mast4	T	A	13: 102,751,424	Y1159F	possibly damaging	Het
Mmp2	A	G	8: 92,850,152	D601G	probably damaging	Het
Mycbp2	A	G	14: 103,156,453	S2891P	probably damaging	Het
Mycbp2	T	A	14: 103,197,357	I2217F	probably damaging	Het
Naip6	A	G	13: 100,300,701	V438A	possibly damaging	Het
Olfr1284	A	G	2: 111,379,393	H131R	not run	Het
Pdf	T	C	8: 107,048,541	R20G	probably benign	Het
Pfdn2	T	C	1: 171,356,594	L47P	probably damaging	Het
Pik3c2g	C	A	6: 139,896,255	N795K		Het
Ppip5k1	A	T	2: 121,311,969	V1333D	probably damaging	Het
Prss44	A	T	9: 110,815,462	I213F	probably damaging	Het
Rbm47	A	G	5: 66,026,214	Y349H	probably damaging	Het
Rcl1	A	T	19: 29,130,696	T253S	probably benign	Het
Rdh1	A	G	10: 127,759,885		probably benign	Het
Scn7a	C	T	2: 66,692,554	W935*	probably null	Het
Sec24b	T	C	3: 130,041,393	N52S	probably benign	Het
Serpinb5	A	T	1: 106,872,361	I94L	probably benign	Het
Setx	T	C	2: 29,146,626	V1041A	probably benign	Het
Slco3a1	G	A	7: 74,318,484	A496V	possibly damaging	Het
Spag5	T	A	11: 78,313,379	L486*	probably null	Het
Spink5	T	C	18: 43,982,250	I183T	probably damaging	Het
Srd5a1	T	C	13: 69,611,054	Y65C	probably benign	Het
Ssh2	T	A	11: 77,453,523	I778N	possibly damaging	Het
Sstr1	C	T	12: 58,213,386	S265L	probably damaging	Het
Syne2	T	A	12: 75,967,755		probably null	Het
Tctn1	A	T	5: 122,261,484	D92E	probably damaging	Het
Tiam2	A	G	17: 3,453,369	I940M	probably damaging	Het
Tmeff2	T	C	1: 50,979,440	W194R	unknown	Het
Tomm20	T	C	8: 126,937,153	T94A	probably benign	Het
Ucn2	A	G	9: 108,986,464	N98S	probably benign	Het
V1rd19	A	T	7: 24,003,318	I70L	probably benign	Het
Vmn1r18	A	G	6: 57,390,518	L17P	probably benign	Het
Vmn2r61	A	G	7: 42,260,110	T20A	probably benign	Het
Wdr59	G	A	8: 111,494,354	T182I		Het
Zfp40	A	T	17: 23,176,181	C477*	probably null	Het
Zfp68	A	G	5: 138,606,568	S498P	possibly damaging	Het
Zfp729b	T	C	13: 67,609,636		probably null	Het
Zfp846	T	G	9: 20,594,225	N460K	probably benign	Het

Other mutations in Zim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Zim1	APN	7	6682760	missense	possibly damaging	0.95
IGL01921:Zim1	APN	7	6682185	splice site	probably benign
IGL02116:Zim1	APN	7	6678254	missense	probably benign	0.00
IGL02252:Zim1	APN	7	6688628	missense	unknown
IGL02354:Zim1	APN	7	6682874	splice site	probably null
IGL02361:Zim1	APN	7	6682874	splice site	probably null
IGL03025:Zim1	APN	7	6682059	missense	probably benign	0.00
R0003:Zim1	UTSW	7	6676948	missense	probably benign	0.01
R1347:Zim1	UTSW	7	6677431	missense	probably damaging	1.00
R1347:Zim1	UTSW	7	6677431	missense	probably damaging	1.00
R1483:Zim1	UTSW	7	6682125	missense	probably benign	0.00
R2106:Zim1	UTSW	7	6678074	missense	probably benign	0.02
R2315:Zim1	UTSW	7	6677068	missense	possibly damaging	0.86
R2508:Zim1	UTSW	7	6677430	small insertion	probably benign
R2508:Zim1	UTSW	7	6677431	small insertion	probably benign
R3706:Zim1	UTSW	7	6677291	missense	probably damaging	0.97
R3975:Zim1	UTSW	7	6677130	missense	probably damaging	1.00
R5524:Zim1	UTSW	7	6677321	missense	probably benign	0.34
R5557:Zim1	UTSW	7	6677711	missense	probably damaging	1.00
R5843:Zim1	UTSW	7	6677698	missense	possibly damaging	0.59
R5844:Zim1	UTSW	7	6678116	missense	probably benign	0.21
R5882:Zim1	UTSW	7	6682738	critical splice donor site	probably null
R6828:Zim1	UTSW	7	6677689	missense	probably damaging	1.00
R6953:Zim1	UTSW	7	6687707	missense	unknown
R7080:Zim1	UTSW	7	6677306	missense	possibly damaging	0.92
R7148:Zim1	UTSW	7	6678221	missense	possibly damaging	0.91
R7199:Zim1	UTSW	7	6677873	nonsense	probably null
R7462:Zim1	UTSW	7	6677812	missense	probably damaging	1.00
R8350:Zim1	UTSW	7	6682065	missense	probably damaging	0.99
R9480:Zim1	UTSW	7	6678051	missense	probably benign	0.20
R9510:Zim1	UTSW	7	6687740	nonsense	probably null
R9761:Zim1	UTSW	7	6677772	missense	probably damaging	1.00
Z1088:Zim1	UTSW	7	6677659	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TACCTGGAGTTTGCCTCGTG -3'
(R):5'- TGCGGGAAAACCTTCAACC -3'

Sequencing Primer
(F):5'- GGAGTTTGCCTCGTGTCTCTTC -3'
(R):5'- ACCCTTTAAATGTGACGAGTGCG -3'

Posted On

2019-09-13