Mutagenetix > Incidental Mutation

Incidental Mutation 'R6253:Zfand4'

506324

Institutional Source

Beutler Lab

Gene Symbol

Zfand4

Ensembl Gene

ENSMUSG00000042213

Gene Name

zinc finger, AN1-type domain 4

Synonyms

Anubl1, 2810002D23Rik

MMRRC Submission

044370-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R6253 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116241183-116307263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116250575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 2 (F2L)

Ref Sequence

ENSEMBL: ENSMUSP00000108521 (fasta)

Gene Model

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

AlphaFold

D3Z3C6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036503
AA Change: F2L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040057
Gene: ENSMUSG00000042213
AA Change: F2L

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 damaging
Transcript: ENSMUST00000112900
AA Change: F2L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108521
Gene: ENSMUSG00000042213
AA Change: F2L

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

possibly damaging
Transcript: ENSMUST00000220845
AA Change: F2L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221239

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222494
AA Change: F2L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000222819
AA Change: F2L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223495
AA Change: F2L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,528,929 (GRCm39)	Y151H	possibly damaging	Het
Aasdh	A	G	5: 77,034,105 (GRCm39)	I482T	possibly damaging	Het
Abca3	G	A	17: 24,616,526 (GRCm39)	M989I	probably benign	Het
Acvr2b	C	T	9: 119,257,627 (GRCm39)	P220L	probably damaging	Het
Aqr	T	C	2: 113,986,758 (GRCm39)	D204G	possibly damaging	Het
Arpp19	G	T	9: 74,964,016 (GRCm39)	D123Y	probably damaging	Het
Bod1l	A	G	5: 41,983,881 (GRCm39)	I554T	probably damaging	Het
Bpifa5	A	G	2: 154,005,420 (GRCm39)	M1V	probably null	Het
Cdh3	T	A	8: 107,263,695 (GRCm39)		probably null	Het
Cep170	A	T	1: 176,607,960 (GRCm39)	D165E	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Cog3	A	G	14: 75,957,152 (GRCm39)	L627P	probably damaging	Het
Col23a1	C	T	11: 51,464,995 (GRCm39)	L453F	probably damaging	Het
Cyp2a22	T	A	7: 26,633,657 (GRCm39)	Q351L	probably benign	Het
Ddx4	T	G	13: 112,772,557 (GRCm39)	K77N	probably benign	Het
Ddx4	C	A	13: 112,772,556 (GRCm39)	E78*	probably null	Het
Decr1	A	T	4: 15,931,179 (GRCm39)	N92K	probably benign	Het
Dnm2	T	C	9: 21,411,571 (GRCm39)	L600P	probably damaging	Het
Ece2	A	C	16: 20,457,932 (GRCm39)	N356H	probably damaging	Het
Ern1	A	T	11: 106,317,734 (GRCm39)	I130N	possibly damaging	Het
Fat2	G	A	11: 55,187,097 (GRCm39)	R1250C	probably damaging	Het
Fat4	T	A	3: 39,005,505 (GRCm39)	V1968D	probably damaging	Het
Frmd6	A	G	12: 70,923,987 (GRCm39)	K82E	probably damaging	Het
Gm5431	A	G	11: 48,785,826 (GRCm39)	V183A	probably benign	Het
Golgb1	T	C	16: 36,735,984 (GRCm39)	S1744P	possibly damaging	Het
Hnrnpa3	C	G	2: 75,492,914 (GRCm39)	Q213E	possibly damaging	Het
Hspa1a	A	G	17: 35,189,526 (GRCm39)	F459S	probably damaging	Het
Ice1	A	G	13: 70,751,283 (GRCm39)	L1601P	probably damaging	Het
Igkv19-93	T	A	6: 68,713,323 (GRCm39)	D102V	probably damaging	Het
Kansl1	G	A	11: 104,248,352 (GRCm39)	T534I	probably benign	Het
Lpin2	T	A	17: 71,538,264 (GRCm39)	S303R	probably damaging	Het
Lrpprc	T	A	17: 85,048,065 (GRCm39)	I845F	probably benign	Het
Mdn1	A	G	4: 32,749,593 (GRCm39)	T4259A	probably benign	Het
Mtcl2	T	C	2: 156,863,339 (GRCm39)	S1197G	probably benign	Het
Mtss1	A	G	15: 58,815,568 (GRCm39)	I664T	probably benign	Het
Myh8	A	G	11: 67,192,793 (GRCm39)	E1528G	probably benign	Het
Myo5c	A	T	9: 75,152,319 (GRCm39)	E69V	probably damaging	Het
Myom3	A	T	4: 135,513,203 (GRCm39)	D627V	probably benign	Het
Myom3	A	G	4: 135,528,314 (GRCm39)	N1053S	probably benign	Het
Or10a4	G	A	7: 106,697,464 (GRCm39)	R264H	possibly damaging	Het
Or2d2b	A	T	7: 106,705,145 (GRCm39)	S308T	probably benign	Het
Or6z3	T	C	7: 6,463,547 (GRCm39)	V13A	probably benign	Het
Phactr1	T	A	13: 43,248,247 (GRCm39)	S399T	probably benign	Het
Plch2	T	A	4: 155,091,558 (GRCm39)	Y84F	probably damaging	Het
Ppp1r13b	A	G	12: 111,802,160 (GRCm39)	S278P	probably benign	Het
Prol1	A	G	5: 88,475,736 (GRCm39)	Y42C	probably damaging	Het
Pum2	A	G	12: 8,798,205 (GRCm39)	E906G	probably damaging	Het
Pwwp3a	T	A	10: 80,068,848 (GRCm39)	C331S	probably benign	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rbp4	G	A	19: 38,113,428 (GRCm39)	T30M	probably benign	Het
Selenbp1	T	C	3: 94,851,157 (GRCm39)	L351P	possibly damaging	Het
Serpinb6b	T	C	13: 33,156,255 (GRCm39)	F115S	probably damaging	Het
Tigd3	A	T	19: 5,942,870 (GRCm39)	Y87N	probably damaging	Het
Tigd5	T	A	15: 75,782,871 (GRCm39)	L411H	probably damaging	Het
Ttc3	T	C	16: 94,258,272 (GRCm39)		probably null	Het
Uhmk1	T	C	1: 170,027,449 (GRCm39)	Q416R	probably damaging	Het
Zfhx3	C	T	8: 109,682,020 (GRCm39)	T3153M	possibly damaging	Het
Zfp697	T	G	3: 98,334,855 (GRCm39)	C207G	possibly damaging	Het
Zfp935	T	C	13: 62,602,685 (GRCm39)	T172A	probably benign	Het
Znrf3	G	T	11: 5,230,865 (GRCm39)	L883I	probably benign	Het

Other mutations in Zfand4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01415:Zfand4	APN	6	116,291,830 (GRCm39)	missense	probably benign	0.14
IGL02001:Zfand4	APN	6	116,250,613 (GRCm39)	missense	probably benign	0.11
IGL02047:Zfand4	APN	6	116,291,889 (GRCm39)	missense	probably damaging	1.00
IGL02887:Zfand4	APN	6	116,250,617 (GRCm39)	missense	possibly damaging	0.66
IGL02943:Zfand4	APN	6	116,250,837 (GRCm39)	splice site	probably benign
IGL03058:Zfand4	APN	6	116,265,038 (GRCm39)	missense	probably benign	0.03
IGL03130:Zfand4	APN	6	116,250,620 (GRCm39)	missense	probably damaging	0.99
IGL03253:Zfand4	APN	6	116,261,770 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Zfand4	UTSW	6	116,261,736 (GRCm39)	missense	probably damaging	1.00
R0015:Zfand4	UTSW	6	116,305,258 (GRCm39)	missense	probably damaging	1.00
R0133:Zfand4	UTSW	6	116,291,700 (GRCm39)	missense	probably benign	0.02
R0446:Zfand4	UTSW	6	116,265,015 (GRCm39)	missense	probably benign	0.29
R0508:Zfand4	UTSW	6	116,262,828 (GRCm39)	missense	probably damaging	1.00
R1385:Zfand4	UTSW	6	116,250,599 (GRCm39)	missense	probably damaging	1.00
R1577:Zfand4	UTSW	6	116,306,373 (GRCm39)	nonsense	probably null
R2179:Zfand4	UTSW	6	116,291,742 (GRCm39)	missense	possibly damaging	0.92
R3862:Zfand4	UTSW	6	116,270,776 (GRCm39)	intron	probably benign
R4607:Zfand4	UTSW	6	116,305,195 (GRCm39)	nonsense	probably null
R4608:Zfand4	UTSW	6	116,305,195 (GRCm39)	nonsense	probably null
R4720:Zfand4	UTSW	6	116,265,122 (GRCm39)	critical splice donor site	probably null
R4724:Zfand4	UTSW	6	116,250,780 (GRCm39)	missense	probably damaging	1.00
R4771:Zfand4	UTSW	6	116,291,311 (GRCm39)	missense	probably damaging	1.00
R5541:Zfand4	UTSW	6	116,291,256 (GRCm39)	missense	possibly damaging	0.50
R5721:Zfand4	UTSW	6	116,264,956 (GRCm39)	missense	probably damaging	1.00
R5901:Zfand4	UTSW	6	116,265,084 (GRCm39)	missense	probably damaging	0.99
R6798:Zfand4	UTSW	6	116,305,214 (GRCm39)	missense	probably benign	0.01
R7030:Zfand4	UTSW	6	116,282,618 (GRCm39)	missense	probably benign	0.01
R7081:Zfand4	UTSW	6	116,292,581 (GRCm39)	missense	possibly damaging	0.71
R7082:Zfand4	UTSW	6	116,305,337 (GRCm39)	splice site	probably null
R8147:Zfand4	UTSW	6	116,291,169 (GRCm39)	missense	probably damaging	0.99
R8703:Zfand4	UTSW	6	116,250,604 (GRCm39)	missense	probably damaging	0.99
R8973:Zfand4	UTSW	6	116,291,041 (GRCm39)	missense	probably benign	0.07
R9659:Zfand4	UTSW	6	116,282,588 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfand4	UTSW	6	116,290,882 (GRCm39)	missense	probably damaging	0.98
Z1177:Zfand4	UTSW	6	116,290,882 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTGATTTCAGAGGGAGGCAC -3'
(R):5'- CAGTCAACGTTTCGATGAAGAG -3'

Sequencing Primer
(F):5'- GTTAGGCACACTTTGTAAAGGC -3'
(R):5'- CAACGTTTCGATGAAGAGTTCCATGG -3'

Posted On

2018-03-15