Mutagenetix > Incidental Mutations

Incidental Mutation 'R5541:Zfand4'

435957

Institutional Source

Beutler Lab

Gene Symbol

Zfand4

Ensembl Gene

ENSMUSG00000042213

Gene Name

zinc finger, AN1-type domain 4

Synonyms

Anubl1, 2810002D23Rik

MMRRC Submission

043099-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116264222-116330302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116314295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 397 (C397S)

Ref Sequence

ENSEMBL: ENSMUSP00000040057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036503] [ENSMUST00000112900] [ENSMUST00000222494] [ENSMUST00000222819] [ENSMUST00000223495]

AlphaFold

D3Z3C6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036503
AA Change: C397S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: C397S

Domain	Start	End	E-Value	Type
low complexity region	118	151	N/A	INTRINSIC
low complexity region	458	472	N/A	INTRINSIC
ZnF_AN1	554	592	4.18e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069169
AA Change: C170S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000068223
Gene: ENSMUSG00000042213
AA Change: C170S

Domain	Start	End	E-Value	Type
low complexity region	16	49	N/A	INTRINSIC
low complexity region	356	370	N/A	INTRINSIC
ZnF_AN1	452	490	4.18e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112900
AA Change: C416S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: C416S

Domain	Start	End	E-Value	Type
UBQ	54	125	4.11e-15	SMART
low complexity region	262	295	N/A	INTRINSIC
low complexity region	602	616	N/A	INTRINSIC
ZnF_AN1	698	736	4.18e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222144

Predicted Effect

probably benign
Transcript: ENSMUST00000222494

Predicted Effect

probably benign
Transcript: ENSMUST00000222819

Predicted Effect

probably benign
Transcript: ENSMUST00000223495

Meta Mutation Damage Score

0.0661

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,969	H34R	probably benign	Het
1700113H08Rik	A	G	10: 87,225,946	K86R	probably benign	Het
Abca13	T	C	11: 9,291,545	V1136A	probably benign	Het
Als2cr12	A	G	1: 58,658,429	M384T	probably benign	Het
Arfgap2	G	A	2: 91,275,769	R530H	probably benign	Het
Arhgap30	T	C	1: 171,404,139		probably null	Het
Asb7	T	C	7: 66,679,269	R8G	probably benign	Het
Bod1l	T	C	5: 41,791,933	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,948,554	E227G	probably damaging	Het
Cercam	A	G	2: 29,875,629	D261G	probably benign	Het
Chd9	A	T	8: 91,051,504	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,502,839	S126R	probably damaging	Het
Defa17	T	A	8: 21,656,549	C64S	probably damaging	Het
Depdc5	A	T	5: 32,864,629		probably benign	Het
Dhx29	A	G	13: 112,940,374	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,192,988	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,145,336	Y416C	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,565,430	I106L	probably benign	Het
Gm10610	A	G	7: 83,549,406		noncoding transcript	Het
Gpr22	A	G	12: 31,709,349	F258S	probably damaging	Het
Grip1	A	T	10: 120,072,718	I618F	probably damaging	Het
H2afy2	T	C	10: 61,747,717	I215V	probably benign	Het
Hspg2	C	T	4: 137,520,551	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,542,825	Q2365K	probably benign	Het
Intu	A	G	3: 40,692,587		probably null	Het
Kdm1b	T	C	13: 47,079,196	M714T	probably damaging	Het
Kif21a	A	G	15: 90,968,113	M924T	probably damaging	Het
Klb	A	T	5: 65,379,234	M636L	probably benign	Het
Klrb1a	G	A	6: 128,609,736	H219Y	probably benign	Het
March10	C	T	11: 105,390,131	D443N	probably damaging	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Olfr1502	T	C	19: 13,861,964	I57T	probably benign	Het
Olfr887	T	C	9: 38,085,123	C96R	probably damaging	Het
Pard3b	A	G	1: 61,639,343	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,447,416	V441E	probably damaging	Het
Pde6g	A	T	11: 120,448,172	I64N	probably damaging	Het
Pdia4	C	T	6: 47,796,637	V593M	probably damaging	Het
Pnn	T	G	12: 59,071,930	V433G	possibly damaging	Het
Rbak	G	A	5: 143,173,990	S436F	probably damaging	Het
Rpl11	A	G	4: 136,052,732		probably benign	Het
Ryr1	G	T	7: 29,086,185	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,324,633	T661S	probably benign	Het
Smg1	T	A	7: 118,157,163		probably benign	Het
St8sia2	T	C	7: 73,966,900	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,398,213		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,557,970		noncoding transcript	Het
Taf1d	T	A	9: 15,308,850	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,214,026	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,669,523	T198I	probably benign	Het
Ube2q2	T	A	9: 55,191,879	V168E	possibly damaging	Het
Ucma	A	G	2: 4,981,330	R105G	probably benign	Het
Vmn2r97	C	T	17: 18,928,355	Q171*	probably null	Het
Wapl	T	C	14: 34,730,662		probably null	Het
Zfhx3	A	G	8: 108,948,951	N2211S	probably damaging	Het
Zfp143	G	T	7: 110,070,480	G39C	probably benign	Het
Zfp568	T	A	7: 30,022,876	D414E	possibly damaging	Het
Zfp574	C	T	7: 25,081,950	A799V	probably damaging	Het

Other mutations in Zfand4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01415:Zfand4	APN	6	116314869	missense	probably benign	0.14
IGL02001:Zfand4	APN	6	116273652	missense	probably benign	0.11
IGL02047:Zfand4	APN	6	116314928	missense	probably damaging	1.00
IGL02887:Zfand4	APN	6	116273656	missense	possibly damaging	0.66
IGL02943:Zfand4	APN	6	116273876	splice site	probably benign
IGL03058:Zfand4	APN	6	116288077	missense	probably benign	0.03
IGL03130:Zfand4	APN	6	116273659	missense	probably damaging	0.99
IGL03253:Zfand4	APN	6	116284809	missense	probably damaging	1.00
PIT4802001:Zfand4	UTSW	6	116284775	missense	probably damaging	1.00
R0015:Zfand4	UTSW	6	116328297	missense	probably damaging	1.00
R0133:Zfand4	UTSW	6	116314739	missense	probably benign	0.02
R0446:Zfand4	UTSW	6	116288054	missense	probably benign	0.29
R0508:Zfand4	UTSW	6	116285867	missense	probably damaging	1.00
R1385:Zfand4	UTSW	6	116273638	missense	probably damaging	1.00
R1577:Zfand4	UTSW	6	116329412	nonsense	probably null
R2179:Zfand4	UTSW	6	116314781	missense	possibly damaging	0.92
R3862:Zfand4	UTSW	6	116293815	intron	probably benign
R4607:Zfand4	UTSW	6	116328234	nonsense	probably null
R4608:Zfand4	UTSW	6	116328234	nonsense	probably null
R4720:Zfand4	UTSW	6	116288161	critical splice donor site	probably null
R4724:Zfand4	UTSW	6	116273819	missense	probably damaging	1.00
R4771:Zfand4	UTSW	6	116314350	missense	probably damaging	1.00
R5721:Zfand4	UTSW	6	116287995	missense	probably damaging	1.00
R5901:Zfand4	UTSW	6	116288123	missense	probably damaging	0.99
R6253:Zfand4	UTSW	6	116273614	missense	probably damaging	0.97
R6798:Zfand4	UTSW	6	116328253	missense	probably benign	0.01
R7030:Zfand4	UTSW	6	116305657	missense	probably benign	0.01
R7081:Zfand4	UTSW	6	116315620	missense	possibly damaging	0.71
R7082:Zfand4	UTSW	6	116328376	splice site	probably null
R8147:Zfand4	UTSW	6	116314208	missense	probably damaging	0.99
R8703:Zfand4	UTSW	6	116273643	missense	probably damaging	0.99
R8973:Zfand4	UTSW	6	116314080	missense	probably benign	0.07
Z1176:Zfand4	UTSW	6	116313921	missense	probably damaging	0.98
Z1177:Zfand4	UTSW	6	116313921	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTATCAGACTGCTTCCTCAGTTG -3'
(R):5'- TGGCTCTCGGTGGTTAAGAAC -3'

Sequencing Primer
(F):5'- TCCTCAGTTGACCCATATAGAACTGG -3'
(R):5'- AAGAACTGCATTGTCTCCTGG -3'

Posted On

2016-10-24