Mutagenetix > Incidental Mutation

Incidental Mutation 'R3433:Zfp13'

266313

Institutional Source

Beutler Lab

Gene Symbol

Zfp13

Ensembl Gene

ENSMUSG00000062012

Gene Name

zinc finger protein 13

Synonyms

Krox-8, Zfp-13

MMRRC Submission

040651-MU

Accession Numbers

Essential gene?

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

Stock #

R3433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23794818-23818461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23795602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 323 (T323I)

Ref Sequence

ENSEMBL: ENSMUSP00000111178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057029] [ENSMUST00000115516] [ENSMUST00000227952]

AlphaFold

P10754

Predicted Effect

probably benign
Transcript: ENSMUST00000057029
AA Change: T316I

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054595
Gene: ENSMUSG00000062012
AA Change: T316I

Domain	Start	End	E-Value	Type
KRAB	117	179	7.54e-10	SMART
ZnF_C2H2	259	281	7.37e-4	SMART
ZnF_C2H2	287	309	1.2e-3	SMART
ZnF_C2H2	315	337	5.9e-3	SMART
ZnF_C2H2	343	365	1.26e-2	SMART
ZnF_C2H2	371	393	9.73e-4	SMART
ZnF_C2H2	399	421	2.12e-4	SMART
ZnF_C2H2	427	449	1.18e-2	SMART
ZnF_C2H2	455	477	6.52e-5	SMART
low complexity region	480	503	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115516
AA Change: T323I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111178
Gene: ENSMUSG00000062012
AA Change: T323I

Domain	Start	End	E-Value	Type
KRAB	124	186	7.54e-10	SMART
ZnF_C2H2	266	288	7.37e-4	SMART
ZnF_C2H2	294	316	1.2e-3	SMART
ZnF_C2H2	322	344	5.9e-3	SMART
ZnF_C2H2	350	372	1.26e-2	SMART
ZnF_C2H2	378	400	9.73e-4	SMART
ZnF_C2H2	406	428	2.12e-4	SMART
ZnF_C2H2	434	456	1.18e-2	SMART
ZnF_C2H2	462	484	6.52e-5	SMART
low complexity region	487	510	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226550

Predicted Effect

probably benign
Transcript: ENSMUST00000227952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228942

Meta Mutation Damage Score

0.0779

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,893,455 (GRCm39)	W1302R	probably damaging	Het
Abcf1	A	G	17: 36,269,109 (GRCm39)	Y689H	probably benign	Het
Adamtsl5	T	C	10: 80,178,725 (GRCm39)	T218A	probably benign	Het
Ahnak	G	T	19: 8,987,358 (GRCm39)	V2881L	probably benign	Het
Atp6v1b1	C	A	6: 83,720,074 (GRCm39)	T3K	possibly damaging	Het
Atp8b5	A	T	4: 43,372,697 (GRCm39)	R1112S	probably benign	Het
Carmil3	A	G	14: 55,745,151 (GRCm39)	D1331G	probably benign	Het
Catsperg2	A	G	7: 29,400,643 (GRCm39)	F696S	possibly damaging	Het
Cd33	T	C	7: 43,179,331 (GRCm39)	T273A	probably benign	Het
Cenpf	C	T	1: 189,392,146 (GRCm39)	C562Y	probably damaging	Het
Cep192	A	G	18: 67,967,963 (GRCm39)	R816G	probably benign	Het
Cnot11	G	A	1: 39,584,268 (GRCm39)		probably null	Het
Col18a1	A	G	10: 76,932,102 (GRCm39)	L329P	unknown	Het
Dnah9	T	C	11: 65,965,938 (GRCm39)	M1693V	possibly damaging	Het
Fbxo41	A	G	6: 85,454,613 (GRCm39)	I701T	probably damaging	Het
Figla	G	T	6: 85,994,411 (GRCm39)	R62L	probably damaging	Het
Gca	T	G	2: 62,520,318 (GRCm39)	S159R	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10845	C	T	14: 80,100,851 (GRCm39)		noncoding transcript	Het
Gm5114	T	C	7: 39,058,621 (GRCm39)	K333E	probably benign	Het
Ift140	T	C	17: 25,255,282 (GRCm39)	I466T	probably benign	Het
Il6st	A	G	13: 112,640,365 (GRCm39)	K653E	probably damaging	Het
Kansl2	A	G	15: 98,426,742 (GRCm39)		probably null	Het
Kcnh7	T	C	2: 62,552,261 (GRCm39)	D910G	probably benign	Het
Leng8	C	A	7: 4,145,131 (GRCm39)	T177K	probably benign	Het
Lrrtm2	A	C	18: 35,346,950 (GRCm39)	S117R	probably damaging	Het
Megf8	G	T	7: 25,059,549 (GRCm39)	A2285S	probably benign	Het
Meiob	T	C	17: 25,035,571 (GRCm39)		probably benign	Het
Myo18a	G	T	11: 77,708,870 (GRCm39)		probably null	Het
Nars1	A	T	18: 64,642,374 (GRCm39)	M156K	probably damaging	Het
Ndor1	A	G	2: 25,137,823 (GRCm39)	S499P	possibly damaging	Het
Or2a57	A	T	6: 43,212,607 (GRCm39)	I22F	probably damaging	Het
Or2r11	G	A	6: 42,437,888 (GRCm39)	H22Y	probably benign	Het
Or4a78	T	C	2: 89,497,577 (GRCm39)	I218V	probably benign	Het
Pcdh15	T	G	10: 74,467,331 (GRCm39)	S1715A	probably benign	Het
Ptprd	C	A	4: 76,004,248 (GRCm39)		probably null	Het
Ros1	A	G	10: 51,967,204 (GRCm39)	Y1668H	probably benign	Het
Rrbp1	A	G	2: 143,794,200 (GRCm39)		probably benign	Het
Rtn4rl2	T	C	2: 84,702,444 (GRCm39)	Y376C	probably damaging	Het
Seh1l	A	C	18: 67,926,222 (GRCm39)	K358T	probably benign	Het
Sema3e	A	T	5: 14,302,728 (GRCm39)	Y751F	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spred2	G	T	11: 19,948,277 (GRCm39)	E91*	probably null	Het
Sspo	A	T	6: 48,452,885 (GRCm39)		probably null	Het
Tcaf1	A	G	6: 42,663,508 (GRCm39)	V124A	probably damaging	Het
Tnks1bp1	T	C	2: 84,901,360 (GRCm39)		probably benign	Het
Txndc11	T	C	16: 10,906,052 (GRCm39)	T493A	probably benign	Het
Usp17lb	T	A	7: 104,490,855 (GRCm39)	Q23L	possibly damaging	Het
Vgf	T	C	5: 137,059,873 (GRCm39)	F12L	probably benign	Het

Other mutations in Zfp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02236:Zfp13	APN	17	23,799,739 (GRCm39)	splice site	probably benign
IGL02447:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02449:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02450:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02466:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02468:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02471:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02473:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02474:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02475:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02491:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02511:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL02558:Zfp13	APN	17	23,795,072 (GRCm39)	missense	probably benign	0.05
IGL03030:Zfp13	APN	17	23,799,819 (GRCm39)	missense	probably benign	0.01
IGL03388:Zfp13	APN	17	23,795,888 (GRCm39)	missense	probably benign	0.00
R0053:Zfp13	UTSW	17	23,795,122 (GRCm39)	missense	probably damaging	1.00
R0053:Zfp13	UTSW	17	23,795,122 (GRCm39)	missense	probably damaging	1.00
R1514:Zfp13	UTSW	17	23,795,386 (GRCm39)	missense	probably damaging	1.00
R2420:Zfp13	UTSW	17	23,795,186 (GRCm39)	missense	probably damaging	1.00
R4458:Zfp13	UTSW	17	23,800,150 (GRCm39)	missense	probably benign	0.01
R4650:Zfp13	UTSW	17	23,799,112 (GRCm39)	missense	probably damaging	1.00
R4824:Zfp13	UTSW	17	23,795,797 (GRCm39)	missense	possibly damaging	0.95
R5088:Zfp13	UTSW	17	23,796,035 (GRCm39)	nonsense	probably null
R5110:Zfp13	UTSW	17	23,799,834 (GRCm39)	missense	probably benign	0.02
R5384:Zfp13	UTSW	17	23,800,156 (GRCm39)	missense	probably damaging	1.00
R7302:Zfp13	UTSW	17	23,800,036 (GRCm39)	missense	probably damaging	1.00
R8443:Zfp13	UTSW	17	23,795,866 (GRCm39)	missense	probably benign
R9728:Zfp13	UTSW	17	23,799,788 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- ATGTGCGATGAGATTGGAGC -3'
(R):5'- CATACAAGTGCGAGCAGTGTG -3'

Sequencing Primer
(F):5'- CTCTGGGTGAAGCACTTGC -3'
(R):5'- CAGTGTGGCAAGGGCTTCAG -3'

Posted On

2015-02-18