Mutagenetix > Incidental Mutation

Incidental Mutation 'R5536:Zmat4'

434827

Institutional Source

Beutler Lab

Gene Symbol

Zmat4

Ensembl Gene

ENSMUSG00000037492

Gene Name

zinc finger, matrin type 4

Synonyms

9630048M01Rik

MMRRC Submission

043094-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R5536 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24137347-24553133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24238508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Ref Sequence

ENSEMBL: ENSMUSP00000121626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042352] [ENSMUST00000123412] [ENSMUST00000131410] [ENSMUST00000135747] [ENSMUST00000207301]

AlphaFold

Q8BZ94

Predicted Effect

probably damaging
Transcript: ENSMUST00000042352
AA Change: V30A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049430
Gene: ENSMUSG00000037492
AA Change: V30A

Domain	Start	End	E-Value	Type
ZnF_U1	11	45	8.34e-6	SMART
ZnF_C2H2	14	38	4.99e1	SMART
ZnF_U1	72	106	8.6e-8	SMART
ZnF_C2H2	75	99	1.33e1	SMART
ZnF_U1	142	176	4.37e-9	SMART
ZnF_C2H2	145	169	4.38e1	SMART
ZnF_U1	195	229	3.08e-2	SMART
ZnF_C2H2	198	222	1.62e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123412
AA Change: V30A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121626
Gene: ENSMUSG00000037492
AA Change: V30A

Domain	Start	End	E-Value	Type
ZnF_U1	11	45	8.34e-6	SMART
ZnF_C2H2	14	38	4.99e1	SMART
ZnF_U1	72	106	8.6e-8	SMART
ZnF_C2H2	75	99	1.33e1	SMART
ZnF_U1	142	176	4.37e-9	SMART
ZnF_C2H2	145	169	4.38e1	SMART
ZnF_U1	195	225	5.76e0	SMART
ZnF_C2H2	198	222	1.62e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131410
AA Change: V30A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115719
Gene: ENSMUSG00000037492
AA Change: V30A

Domain	Start	End	E-Value	Type
ZnF_U1	11	45	8.34e-6	SMART
ZnF_U1	72	96	1.09e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135747
AA Change: V44A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121337
Gene: ENSMUSG00000037492
AA Change: V44A

Domain	Start	End	E-Value	Type
ZnF_U1	25	59	8.34e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209073

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,772,149 (GRCm39)	G446V	possibly damaging	Het
Aadac	T	G	3: 59,946,984 (GRCm39)	N227K	probably benign	Het
Acap1	C	T	11: 69,780,133 (GRCm39)	G74R	probably benign	Het
Adrm1	A	G	2: 179,813,981 (GRCm39)		probably benign	Het
Appl1	G	C	14: 26,645,737 (GRCm39)	S691*	probably null	Het
Atp2a2	T	C	5: 122,595,245 (GRCm39)	D1035G	probably benign	Het
AW551984	A	G	9: 39,504,169 (GRCm39)	I599T	probably benign	Het
Col23a1	C	A	11: 51,458,776 (GRCm39)	D304E	probably damaging	Het
Csmd1	T	C	8: 16,338,674 (GRCm39)	R478G	probably damaging	Het
Dnah7a	T	C	1: 53,464,412 (GRCm39)	N3660D	probably benign	Het
Drosha	T	A	15: 12,929,797 (GRCm39)	Y1331N	possibly damaging	Het
E2f6	T	G	12: 16,874,685 (GRCm39)	S256A	probably benign	Het
Evc	A	G	5: 37,483,927 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Galnt2	T	C	8: 125,050,412 (GRCm39)	C91R	probably damaging	Het
Gm3095	G	T	14: 15,170,371 (GRCm39)	M73I	probably benign	Het
Gpr179	T	A	11: 97,234,641 (GRCm39)	Q480L	probably damaging	Het
Gucy2g	T	A	19: 55,226,359 (GRCm39)	I186F	probably benign	Het
Hmcn1	T	A	1: 150,631,042 (GRCm39)	I919F	probably benign	Het
Kdm3a	A	C	6: 71,588,920 (GRCm39)	V363G	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lama5	C	T	2: 179,831,142 (GRCm39)	R1839H	probably damaging	Het
Lpo	T	C	11: 87,707,389 (GRCm39)	D208G	probably damaging	Het
Lpp	A	G	16: 24,663,956 (GRCm39)	D411G	possibly damaging	Het
Marco	T	C	1: 120,432,464 (GRCm39)	S8G	possibly damaging	Het
Mthfr	T	C	4: 148,128,940 (GRCm39)	F171S	probably damaging	Het
Nlrx1	A	T	9: 44,175,183 (GRCm39)	S198T	probably damaging	Het
Nol10	C	A	12: 17,466,138 (GRCm39)	S511*	probably null	Het
Nup153	T	C	13: 46,836,485 (GRCm39)	T1375A	probably benign	Het
Obscn	A	G	11: 58,998,697 (GRCm39)	S1367P	probably damaging	Het
Or4x6	A	G	2: 89,949,183 (GRCm39)	V253A	probably benign	Het
Pcdha7	G	A	18: 37,108,303 (GRCm39)	V443M	probably damaging	Het
Plekha1	G	T	7: 130,511,331 (GRCm39)	R305I	probably damaging	Het
Psmb2	T	A	4: 126,578,002 (GRCm39)	I60N	probably damaging	Het
Rad17	C	A	13: 100,767,612 (GRCm39)	G330C	probably damaging	Het
Slc5a6	A	G	5: 31,200,446 (GRCm39)	S80P	probably damaging	Het
Srgap2	T	A	1: 131,228,128 (GRCm39)		probably null	Het
Taf8	C	A	17: 47,805,407 (GRCm39)	R164L	possibly damaging	Het
Tmem87a	C	A	2: 120,227,911 (GRCm39)	D79Y	probably damaging	Het
Tmtc4	G	A	14: 123,170,291 (GRCm39)	R574W	probably benign	Het
Tprn	G	A	2: 25,153,369 (GRCm39)	A224T	probably benign	Het
Usf3	A	G	16: 44,037,733 (GRCm39)	T738A	probably benign	Het
Vmn2r54	A	C	7: 12,366,343 (GRCm39)	V197G	probably benign	Het
Zbtb40	G	T	4: 136,714,642 (GRCm39)	P1049Q	probably damaging	Het
Zfp551	A	T	7: 12,149,488 (GRCm39)	S640R	possibly damaging	Het
Zfp932	T	A	5: 110,157,713 (GRCm39)	C470*	probably null	Het
Zkscan8	T	C	13: 21,710,838 (GRCm39)	I91V	probably damaging	Het

Other mutations in Zmat4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Zmat4	APN	8	24,392,185 (GRCm39)	missense	probably benign	0.00
IGL01678:Zmat4	APN	8	24,392,064 (GRCm39)	missense	probably damaging	1.00
IGL02528:Zmat4	APN	8	24,505,212 (GRCm39)	missense	probably damaging	0.99
IGL02638:Zmat4	APN	8	24,287,389 (GRCm39)	missense	probably damaging	1.00
IGL03203:Zmat4	APN	8	24,505,200 (GRCm39)	missense	probably damaging	0.99
R0208:Zmat4	UTSW	8	24,392,083 (GRCm39)	missense	probably damaging	1.00
R0884:Zmat4	UTSW	8	24,505,143 (GRCm39)	missense	probably benign	0.00
R1856:Zmat4	UTSW	8	24,419,151 (GRCm39)	missense	probably benign	0.41
R1888:Zmat4	UTSW	8	24,505,177 (GRCm39)	missense	probably damaging	0.99
R1888:Zmat4	UTSW	8	24,505,177 (GRCm39)	missense	probably damaging	0.99
R2166:Zmat4	UTSW	8	24,392,152 (GRCm39)	missense	probably damaging	1.00
R3704:Zmat4	UTSW	8	24,287,430 (GRCm39)	missense	probably benign	0.18
R4966:Zmat4	UTSW	8	24,392,085 (GRCm39)	missense	probably damaging	1.00
R5063:Zmat4	UTSW	8	24,238,457 (GRCm39)	missense	probably damaging	0.97
R5990:Zmat4	UTSW	8	24,419,279 (GRCm39)	missense	probably damaging	1.00
R6191:Zmat4	UTSW	8	24,392,083 (GRCm39)	missense	probably damaging	1.00
R6645:Zmat4	UTSW	8	24,287,417 (GRCm39)	splice site	probably null
R6962:Zmat4	UTSW	8	24,392,181 (GRCm39)	missense	probably benign	0.00
R7944:Zmat4	UTSW	8	24,238,436 (GRCm39)	missense	possibly damaging	0.95
R7945:Zmat4	UTSW	8	24,238,436 (GRCm39)	missense	possibly damaging	0.95
R8536:Zmat4	UTSW	8	24,238,523 (GRCm39)	critical splice donor site	probably null
R9182:Zmat4	UTSW	8	24,419,226 (GRCm39)	missense	probably damaging	1.00
R9718:Zmat4	UTSW	8	24,238,507 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGGGACCCTGGCTTTTC -3'
(R):5'- TTTATTTACCCAGGGCTGCAG -3'

Sequencing Primer
(F):5'- GGACCCTGGCTTTTCACACATTTAG -3'
(R):5'- TTACCCAGGGCTGCAGAATAAATTC -3'

Posted On

2016-10-24