Mutagenetix > Incidental Mutation

Incidental Mutation 'R1183:Zmym4'

101711

Institutional Source

Beutler Lab

Gene Symbol

Zmym4

Ensembl Gene

ENSMUSG00000042446

Gene Name

zinc finger, MYM-type 4

Synonyms

Zfp262, 6330503C17Rik

MMRRC Submission

039255-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.513) question?

Stock #

R1183 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126755732-126861928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126819632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 90 (D90E)

Ref Sequence

ENSEMBL: ENSMUSP00000101714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106108]

AlphaFold

A2A791

Predicted Effect

probably damaging
Transcript: ENSMUST00000106108
AA Change: D90E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101714
Gene: ENSMUSG00000042446
AA Change: D90E

Domain	Start	End	E-Value	Type
TRASH	341	377	6.53e-4	SMART
TRASH	389	429	7.22e-6	SMART
TRASH	441	479	1.77e0	SMART
TRASH	486	525	4.95e-4	SMART
TRASH	531	569	1.05e-2	SMART
TRASH	579	615	2.82e1	SMART
low complexity region	640	649	N/A	INTRINSIC
TRASH	687	723	8.49e-3	SMART
TRASH	729	764	1.14e-3	SMART
TRASH	772	810	4.48e-2	SMART
TRASH	816	851	2.06e-1	SMART
low complexity region	974	993	N/A	INTRINSIC
low complexity region	1002	1021	N/A	INTRINSIC
Pfam:DUF3504	1357	1527	1.7e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129028

Predicted Effect

probably benign
Transcript: ENSMUST00000135003

SMART Domains

Protein: ENSMUSP00000120813
Gene: ENSMUSG00000042446

Domain	Start	End	E-Value	Type
TRASH	90	126	6.53e-4	SMART
TRASH	138	178	7.22e-6	SMART
TRASH	190	228	1.77e0	SMART
TRASH	235	274	3.05e-4	SMART
low complexity region	300	309	N/A	INTRINSIC
TRASH	347	383	8.49e-3	SMART
TRASH	389	424	1.14e-3	SMART
TRASH	432	470	4.48e-2	SMART
TRASH	476	511	2.06e-1	SMART
low complexity region	634	653	N/A	INTRINSIC
low complexity region	662	681	N/A	INTRINSIC
Pfam:DUF3504	1017	1187	1.5e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154821

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	G	8: 111,768,206 (GRCm39)	Y192*	probably null	Het
Abcc6	T	C	7: 45,634,677 (GRCm39)	Y1100C	probably damaging	Het
Adamtsl2	T	C	2: 26,974,092 (GRCm39)	W132R	probably damaging	Het
Adgra2	T	A	8: 27,604,416 (GRCm39)	V497E	probably damaging	Het
Adtrp	T	G	13: 41,981,813 (GRCm39)		probably benign	Het
Alg9	T	A	9: 50,700,833 (GRCm39)	L201Q	possibly damaging	Het
Ap4e1	T	A	2: 126,856,121 (GRCm39)	I84K	probably damaging	Het
Atrnl1	T	C	19: 57,638,725 (GRCm39)	S288P	probably damaging	Het
Bltp1	T	A	3: 36,949,452 (GRCm39)	L366Q	possibly damaging	Het
Cacna1a	A	G	8: 85,306,846 (GRCm39)	D1367G	probably damaging	Het
Card19	C	T	13: 49,358,727 (GRCm39)	R82Q	probably damaging	Het
Cep128	T	C	12: 91,292,372 (GRCm39)	I226V	possibly damaging	Het
Ces1f	A	C	8: 93,994,633 (GRCm39)	D259E	probably benign	Het
Ckap5	T	A	2: 91,416,611 (GRCm39)	M1072K	probably benign	Het
Dcpp2	T	A	17: 24,119,468 (GRCm39)	V94D	probably benign	Het
Dnah2	T	C	11: 69,337,474 (GRCm39)	D3209G	possibly damaging	Het
Dsg1c	A	G	18: 20,416,255 (GRCm39)	T719A	probably damaging	Het
Dsp	G	A	13: 38,375,716 (GRCm39)	W1167*	probably null	Het
Eml5	T	C	12: 98,758,305 (GRCm39)	I1874V	probably benign	Het
Epg5	A	G	18: 78,003,926 (GRCm39)	T645A	probably damaging	Het
F2rl2	T	C	13: 95,837,621 (GRCm39)	L222S	probably damaging	Het
Fam114a1	T	A	5: 65,191,731 (GRCm39)	C495S	probably damaging	Het
Fbn1	A	T	2: 125,163,537 (GRCm39)	D2106E	probably benign	Het
Fgf14	T	A	14: 124,913,936 (GRCm39)	N65I	probably benign	Het
Fip1l1	T	C	5: 74,755,763 (GRCm39)	Y497H	probably damaging	Het
Fn1	A	C	1: 71,625,404 (GRCm39)	D2376E	probably damaging	Het
Foxd2	T	C	4: 114,764,662 (GRCm39)	T453A	possibly damaging	Het
Galnt1	G	T	18: 24,404,647 (GRCm39)	W328L	probably damaging	Het
Gapt	A	G	13: 110,490,372 (GRCm39)	V97A	possibly damaging	Het
Gatad1	A	G	5: 3,693,707 (GRCm39)	V154A	possibly damaging	Het
Gdf15	A	G	8: 71,084,202 (GRCm39)	F21L	probably benign	Het
Igdcc4	T	C	9: 65,029,182 (GRCm39)	F273S	possibly damaging	Het
Invs	A	T	4: 48,421,725 (GRCm39)	R786W	possibly damaging	Het
Itfg1	T	G	8: 86,507,152 (GRCm39)	E236A	probably benign	Het
Jak3	A	T	8: 72,137,194 (GRCm39)	I752F	probably damaging	Het
Kcnip3	C	A	2: 127,306,985 (GRCm39)	G144W	probably damaging	Het
Kctd19	T	C	8: 106,109,598 (GRCm39)	H925R	probably benign	Het
Kdr	C	T	5: 76,107,511 (GRCm39)	A1011T	probably damaging	Het
Kif13b	C	A	14: 65,019,826 (GRCm39)	H1398Q	probably benign	Het
Lrp4	A	T	2: 91,307,864 (GRCm39)		probably null	Het
Lrtm2	T	C	6: 119,297,846 (GRCm39)	D65G	probably benign	Het
Lyz1	A	G	10: 117,128,715 (GRCm39)	L10P	probably damaging	Het
Metap2	A	T	10: 93,706,046 (GRCm39)	N245K	probably damaging	Het
Mms19	T	C	19: 41,943,270 (GRCm39)	D297G	possibly damaging	Het
Mocs3	A	G	2: 168,073,573 (GRCm39)	D340G	possibly damaging	Het
Mtfr1l	A	G	4: 134,256,436 (GRCm39)	L243P	probably damaging	Het
Mtss1	A	G	15: 58,842,897 (GRCm39)	I105T	probably damaging	Het
Myo18a	T	C	11: 77,748,571 (GRCm39)	S1967P	probably damaging	Het
Ncor2	T	C	5: 125,100,585 (GRCm39)	N2248S	possibly damaging	Het
Nfatc2	T	C	2: 168,432,008 (GRCm39)	D35G	possibly damaging	Het
Nup210l	T	A	3: 90,067,252 (GRCm39)	M764K	probably benign	Het
Or10a3n	A	G	7: 108,492,948 (GRCm39)	L222P	probably damaging	Het
Otof	T	C	5: 30,529,256 (GRCm39)	S1753G	probably damaging	Het
Otog	G	A	7: 45,939,179 (GRCm39)	V2070I	probably benign	Het
Piezo2	A	G	18: 63,219,824 (GRCm39)	V961A	probably damaging	Het
Pofut1	C	T	2: 153,103,158 (GRCm39)	S169L	probably benign	Het
Ppp1r10	T	A	17: 36,240,335 (GRCm39)	S542T	possibly damaging	Het
Prpf8	T	C	11: 75,381,156 (GRCm39)	Y219H	possibly damaging	Het
Ptges3l	T	C	11: 101,312,731 (GRCm39)	D113G	possibly damaging	Het
Pycr3	G	A	15: 75,790,647 (GRCm39)	L71F	probably benign	Het
Ramp3	A	G	11: 6,624,867 (GRCm39)	K54E	possibly damaging	Het
Rbpms	C	A	8: 34,294,100 (GRCm39)	Q214H	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo4	C	A	9: 37,319,348 (GRCm39)	D565E	probably damaging	Het
S100a1	C	T	3: 90,418,641 (GRCm39)	V58I	probably benign	Het
Setx	T	A	2: 29,070,104 (GRCm39)	D2636E	probably benign	Het
Sun2	A	T	15: 79,612,669 (GRCm39)	V417E	probably damaging	Het
Tbccd1	T	C	16: 22,660,519 (GRCm39)	N99S	probably benign	Het
Tex15	A	G	8: 34,064,893 (GRCm39)	D1441G	probably benign	Het
Tmc2	T	A	2: 130,089,896 (GRCm39)	M627K	probably damaging	Het
Trim32	A	G	4: 65,532,628 (GRCm39)	Y395C	probably benign	Het
Trpm2	A	G	10: 77,759,398 (GRCm39)	Y1129H	probably damaging	Het
Trpm8	A	T	1: 88,275,813 (GRCm39)	R470S	probably damaging	Het
Tsg101	G	T	7: 46,539,372 (GRCm39)	D389E	probably benign	Het
Ubn1	T	C	16: 4,882,406 (GRCm39)	L46P	probably damaging	Het
Ubr5	T	C	15: 37,997,419 (GRCm39)	I1745V	possibly damaging	Het
Usp20	T	C	2: 30,901,797 (GRCm39)	Y521H	probably benign	Het
Vmn1r159	A	T	7: 22,543,019 (GRCm39)	H4Q	probably null	Het
Vmn2r27	T	A	6: 124,177,491 (GRCm39)	E504D	probably benign	Het
Wdr72	A	T	9: 74,086,867 (GRCm39)	I612F	probably benign	Het
Zbtb8a	T	C	4: 129,251,520 (GRCm39)	H317R	possibly damaging	Het
Zfp507	T	C	7: 35,494,315 (GRCm39)	S243G	probably damaging	Het
Zfp764	A	G	7: 127,005,419 (GRCm39)	W73R	probably damaging	Het

Other mutations in Zmym4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00537:Zmym4	APN	4	126,783,851 (GRCm39)	missense	probably benign
IGL00845:Zmym4	APN	4	126,794,406 (GRCm39)	missense	probably benign	0.28
IGL01122:Zmym4	APN	4	126,758,045 (GRCm39)	missense	probably damaging	1.00
IGL01374:Zmym4	APN	4	126,762,750 (GRCm39)	missense	probably damaging	1.00
IGL01564:Zmym4	APN	4	126,805,073 (GRCm39)	missense	possibly damaging	0.84
IGL02014:Zmym4	APN	4	126,794,462 (GRCm39)	missense	possibly damaging	0.67
IGL02187:Zmym4	APN	4	126,764,066 (GRCm39)	missense	probably damaging	0.97
IGL02887:Zmym4	APN	4	126,842,268 (GRCm39)	missense	probably damaging	0.96
IGL03371:Zmym4	APN	4	126,808,881 (GRCm39)	missense	possibly damaging	0.90
IGL03400:Zmym4	APN	4	126,816,920 (GRCm39)	missense	probably benign	0.12
arriba	UTSW	4	126,809,415 (GRCm39)	missense	probably damaging	0.97
foreclosed	UTSW	4	126,789,099 (GRCm39)	missense	probably damaging	1.00
Foreshortened	UTSW	4	126,804,729 (GRCm39)	missense	possibly damaging	0.75
levantese	UTSW	4	126,757,961 (GRCm39)	missense	probably damaging	0.99
terminated	UTSW	4	126,819,588 (GRCm39)	missense	probably benign	0.02
BB004:Zmym4	UTSW	4	126,799,170 (GRCm39)	missense	probably benign	0.42
BB014:Zmym4	UTSW	4	126,799,170 (GRCm39)	missense	probably benign	0.42
R0149:Zmym4	UTSW	4	126,804,938 (GRCm39)	missense	probably benign	0.00
R0361:Zmym4	UTSW	4	126,804,938 (GRCm39)	missense	probably benign	0.00
R0423:Zmym4	UTSW	4	126,776,112 (GRCm39)	splice site	probably benign
R0532:Zmym4	UTSW	4	126,792,194 (GRCm39)	nonsense	probably null
R0745:Zmym4	UTSW	4	126,796,496 (GRCm39)	splice site	probably benign
R1401:Zmym4	UTSW	4	126,804,962 (GRCm39)	missense	probably benign	0.00
R1446:Zmym4	UTSW	4	126,776,275 (GRCm39)	missense	probably damaging	1.00
R1491:Zmym4	UTSW	4	126,776,105 (GRCm39)	critical splice acceptor site	probably null
R1566:Zmym4	UTSW	4	126,804,940 (GRCm39)	missense	possibly damaging	0.94
R1962:Zmym4	UTSW	4	126,796,463 (GRCm39)	missense	possibly damaging	0.47
R2398:Zmym4	UTSW	4	126,816,929 (GRCm39)	missense	probably damaging	1.00
R2930:Zmym4	UTSW	4	126,819,316 (GRCm39)	missense	probably benign	0.00
R3891:Zmym4	UTSW	4	126,798,269 (GRCm39)	missense	probably benign	0.04
R3892:Zmym4	UTSW	4	126,798,269 (GRCm39)	missense	probably benign	0.04
R4659:Zmym4	UTSW	4	126,842,221 (GRCm39)	splice site	probably null
R4702:Zmym4	UTSW	4	126,816,958 (GRCm39)	missense	probably benign	0.01
R5160:Zmym4	UTSW	4	126,763,977 (GRCm39)	missense	probably damaging	0.97
R5614:Zmym4	UTSW	4	126,804,729 (GRCm39)	missense	possibly damaging	0.75
R5773:Zmym4	UTSW	4	126,799,163 (GRCm39)	missense	possibly damaging	0.52
R6450:Zmym4	UTSW	4	126,789,099 (GRCm39)	missense	probably damaging	1.00
R6741:Zmym4	UTSW	4	126,808,878 (GRCm39)	missense	possibly damaging	0.80
R7023:Zmym4	UTSW	4	126,762,593 (GRCm39)	missense	probably damaging	1.00
R7315:Zmym4	UTSW	4	126,776,385 (GRCm39)	missense	probably benign	0.09
R7468:Zmym4	UTSW	4	126,776,029 (GRCm39)	missense	probably benign	0.40
R7546:Zmym4	UTSW	4	126,757,961 (GRCm39)	missense	probably damaging	0.99
R7609:Zmym4	UTSW	4	126,819,588 (GRCm39)	missense	probably benign	0.02
R7764:Zmym4	UTSW	4	126,819,409 (GRCm39)	missense	probably benign	0.06
R7897:Zmym4	UTSW	4	126,783,332 (GRCm39)	missense	possibly damaging	0.76
R7918:Zmym4	UTSW	4	126,804,797 (GRCm39)	critical splice acceptor site	probably null
R7927:Zmym4	UTSW	4	126,799,170 (GRCm39)	missense	probably benign	0.42
R8129:Zmym4	UTSW	4	126,808,956 (GRCm39)	missense	possibly damaging	0.87
R8240:Zmym4	UTSW	4	126,798,188 (GRCm39)	critical splice donor site	probably null
R8248:Zmym4	UTSW	4	126,799,162 (GRCm39)	missense	possibly damaging	0.56
R8261:Zmym4	UTSW	4	126,798,360 (GRCm39)	missense	probably damaging	1.00
R8313:Zmym4	UTSW	4	126,804,762 (GRCm39)	missense	probably benign	0.19
R8353:Zmym4	UTSW	4	126,800,905 (GRCm39)	missense	possibly damaging	0.46
R8747:Zmym4	UTSW	4	126,787,198 (GRCm39)	missense	probably damaging	1.00
R8787:Zmym4	UTSW	4	126,816,953 (GRCm39)	missense	probably benign	0.41
R8795:Zmym4	UTSW	4	126,799,819 (GRCm39)	missense	probably benign	0.35
R8948:Zmym4	UTSW	4	126,758,060 (GRCm39)	missense	probably damaging	1.00
R9218:Zmym4	UTSW	4	126,809,415 (GRCm39)	missense	probably damaging	0.97
R9233:Zmym4	UTSW	4	126,776,310 (GRCm39)	missense	probably damaging	0.99
R9286:Zmym4	UTSW	4	126,783,812 (GRCm39)	missense	probably damaging	1.00
R9468:Zmym4	UTSW	4	126,800,993 (GRCm39)	missense	probably benign	0.01
R9542:Zmym4	UTSW	4	126,799,164 (GRCm39)	missense	probably benign	0.00
R9756:Zmym4	UTSW	4	126,771,502 (GRCm39)	missense	probably damaging	1.00
R9776:Zmym4	UTSW	4	126,804,942 (GRCm39)	missense	possibly damaging	0.51
U24488:Zmym4	UTSW	4	126,819,453 (GRCm39)	missense	possibly damaging	0.69
Z1177:Zmym4	UTSW	4	126,801,005 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACTGCTTTTCAACCTTGAATCCAAACC -3'
(R):5'- TGCGGTCATCCTCAGCCCTG -3'

Sequencing Primer
(F):5'- CACGTTCATGATAAGTTAGGTCTC -3'
(R):5'- TGGTGTCATGGATACAGAAATGTC -3'

Posted On

2014-01-15