Mutagenetix > Incidental Mutations

Incidental Mutation 'R0446:Zfand4'

39371

Institutional Source

Beutler Lab

Gene Symbol

Zfand4

Ensembl Gene

ENSMUSG00000042213

Gene Name

zinc finger, AN1-type domain 4

Synonyms

Anubl1, 2810002D23Rik

MMRRC Submission

038647-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R0446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116264222-116330302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116288054 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 160 (T160I)

Ref Sequence

ENSEMBL: ENSMUSP00000040057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036503] [ENSMUST00000112900] [ENSMUST00000220845] [ENSMUST00000221069] [ENSMUST00000222494] [ENSMUST00000222819] [ENSMUST00000223495]

Predicted Effect

probably benign
Transcript: ENSMUST00000036503
AA Change: T160I

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: T160I

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: ENSMUST00000112900
AA Change: T160I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: T160I

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

probably benign
Transcript: ENSMUST00000220845

Predicted Effect

probably benign
Transcript: ENSMUST00000221069
AA Change: T12I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222144

Predicted Effect

probably benign
Transcript: ENSMUST00000222494

Predicted Effect

probably benign
Transcript: ENSMUST00000222819

Predicted Effect

probably benign
Transcript: ENSMUST00000223495
AA Change: T160I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	G	A	2: 91,304,764	T20I	possibly damaging	Het
4930435E12Rik	G	A	16: 38,828,702	T15I	probably benign	Het
4933434E20Rik	A	G	3: 90,064,459	T42A	probably benign	Het
Actr3b	T	A	5: 25,831,732	I181K	probably damaging	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
B3galt4	T	C	17: 33,951,018	E82G	probably benign	Het
Bag1	G	A	4: 40,936,609	T349I	probably benign	Het
Brip1	A	T	11: 86,157,601	L305Q	probably damaging	Het
Cdipt	A	G	7: 126,978,264	T61A	probably damaging	Het
Cmya5	T	A	13: 93,093,656	R1641S	probably benign	Het
Cog7	T	C	7: 121,937,072	D515G	probably benign	Het
Cpsf4	T	A	5: 145,177,244	L171Q	probably damaging	Het
Cuzd1	A	T	7: 131,316,280		probably null	Het
Dapk1	T	A	13: 60,725,287		probably null	Het
Diaph1	A	G	18: 37,853,590	V1114A	possibly damaging	Het
Emx2	A	T	19: 59,463,916	K211*	probably null	Het
Fam160b1	G	A	19: 57,381,407	D461N	probably benign	Het
Fam170a	T	A	18: 50,280,632	C55S	possibly damaging	Het
Fbxw26	A	G	9: 109,743,720	S119P	probably benign	Het
Fryl	G	A	5: 73,097,417	T894M	possibly damaging	Het
Gad1-ps	C	A	10: 99,445,521		noncoding transcript	Het
Gm14124	A	G	2: 150,268,073	T228A	possibly damaging	Het
Gss	T	C	2: 155,567,745	E257G	probably benign	Het
Klhdc1	A	C	12: 69,283,308	S404R	probably benign	Het
Kmt2e	T	A	5: 23,497,534		probably null	Het
Krt20	G	A	11: 99,437,776	Q108*	probably null	Het
Lmnb1	T	A	18: 56,743,259	S480T	probably benign	Het
Lyst	T	A	13: 13,638,048	M1015K	probably benign	Het
Mdm1	T	G	10: 118,152,056	S290A	probably benign	Het
Mkln1	T	A	6: 31,449,504	F238I	probably damaging	Het
Mrgprb3	A	G	7: 48,643,236	V189A	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neurod6	C	T	6: 55,679,629	E8K	probably benign	Het
Nlrp12	T	C	7: 3,234,029	I747V	probably benign	Het
Notch4	C	T	17: 34,565,363	R43W	possibly damaging	Het
Obscn	A	T	11: 58,995,412		probably benign	Het
Olfr1153	T	C	2: 87,896,855	Y219H	possibly damaging	Het
Olfr1346	T	C	7: 6,475,025	V305A	probably benign	Het
Olfr480	A	T	7: 108,066,725	Y24*	probably null	Het
Olfr522	A	T	7: 140,162,471	S160T	probably damaging	Het
Olfr920	G	T	9: 38,755,818	L43F	probably damaging	Het
Olfr958	A	T	9: 39,550,451	I140N	probably damaging	Het
Orc5	C	T	5: 22,546,457	V85I	probably benign	Het
Pccb	T	C	9: 100,982,797	D468G	probably damaging	Het
Pdzd2	A	T	15: 12,375,024	V1675E	probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pltp	A	T	2: 164,854,400	N97K	probably damaging	Het
Polr1a	T	C	6: 71,950,664		probably null	Het
Prss42	G	A	9: 110,799,273	V162I	possibly damaging	Het
Rbfox2	A	T	15: 77,099,255	Y269N	probably damaging	Het
Rftn2	A	T	1: 55,214,195	I83K	probably damaging	Het
S1pr4	A	T	10: 81,498,989	I217N	probably damaging	Het
Slc23a2	T	C	2: 132,078,433	K184R	probably benign	Het
Slc6a19	T	C	13: 73,691,695	N156S	probably benign	Het
Svep1	C	T	4: 58,088,280	G1723D	probably damaging	Het
Tbc1d32	T	A	10: 56,192,898	H358L	possibly damaging	Het
Tigit	G	T	16: 43,662,271	N33K	probably damaging	Het
Tmem25	T	C	9: 44,796,581	Y139C	probably damaging	Het
Trmt13	G	A	3: 116,582,626	T372M	probably damaging	Het
Ubr2	A	T	17: 46,983,298	M303K	probably damaging	Het
Usp34	A	G	11: 23,467,207	E2952G	probably damaging	Het
Zan	T	A	5: 137,391,658	I4851F	unknown	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
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
R5541:Zfand4	UTSW	6	116314295	missense	possibly damaging	0.50
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
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'- CGTCTTATCACATGCACAGTGTGTCTG -3'
(R):5'- GGGTGAGGGTACATGAAACTTACTTGG -3'

Sequencing Primer
(F):5'- GCTGAGTTGAAAGCCTGTTG -3'
(R):5'- ACACACAGGCTTCTGAAGTG -3'

Posted On

2013-05-23