Mutagenetix > Incidental Mutation

Incidental Mutation 'R5548:Zfp600'

434980

Institutional Source

Beutler Lab

Gene Symbol

Zfp600

Ensembl Gene

ENSMUSG00000066007

Gene Name

zinc finger protein 600

Synonyms

Gm13164

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R5548 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146093397-146135326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146133019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 562 (S562R)

Ref Sequence

ENSEMBL: ENSMUSP00000126879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092750] [ENSMUST00000131932] [ENSMUST00000168483]

AlphaFold

A2A7V0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092750
AA Change: S562R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090425
Gene: ENSMUSG00000066007
AA Change: S562R

Domain	Start	End	E-Value	Type
KRAB	28	90	1.29e-17	SMART
ZnF_C2H2	251	273	7.9e-4	SMART
ZnF_C2H2	279	301	7.9e-4	SMART
ZnF_C2H2	307	329	3.49e-5	SMART
ZnF_C2H2	335	357	1.95e-3	SMART
ZnF_C2H2	363	385	7.9e-4	SMART
ZnF_C2H2	391	413	7.9e-4	SMART
ZnF_C2H2	419	441	3.49e-5	SMART
ZnF_C2H2	447	469	3.89e-3	SMART
ZnF_C2H2	475	497	2.75e-3	SMART
ZnF_C2H2	503	525	3.04e-5	SMART
ZnF_C2H2	531	553	8.34e-3	SMART
ZnF_C2H2	559	581	5.67e-5	SMART
ZnF_C2H2	587	609	1.98e-4	SMART
ZnF_C2H2	615	637	5.29e-5	SMART
ZnF_C2H2	643	665	1.58e-3	SMART
ZnF_C2H2	671	693	1.28e-3	SMART
ZnF_C2H2	699	721	1.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131932

SMART Domains

Protein: ENSMUSP00000117892
Gene: ENSMUSG00000066007

Domain	Start	End	E-Value	Type
KRAB	28	90	1.29e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153595

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168483
AA Change: S562R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126879
Gene: ENSMUSG00000066007
AA Change: S562R

Domain	Start	End	E-Value	Type
KRAB	28	90	1.29e-17	SMART
ZnF_C2H2	251	273	7.9e-4	SMART
ZnF_C2H2	279	301	7.9e-4	SMART
ZnF_C2H2	307	329	3.49e-5	SMART
ZnF_C2H2	335	357	1.95e-3	SMART
ZnF_C2H2	363	385	7.9e-4	SMART
ZnF_C2H2	391	413	7.9e-4	SMART
ZnF_C2H2	419	441	3.49e-5	SMART
ZnF_C2H2	447	469	3.89e-3	SMART
ZnF_C2H2	475	497	2.75e-3	SMART
ZnF_C2H2	503	525	3.04e-5	SMART
ZnF_C2H2	531	553	8.34e-3	SMART
ZnF_C2H2	559	581	5.67e-5	SMART
ZnF_C2H2	587	609	1.98e-4	SMART
ZnF_C2H2	615	637	5.29e-5	SMART
ZnF_C2H2	643	665	1.58e-3	SMART
ZnF_C2H2	671	693	1.28e-3	SMART
ZnF_C2H2	699	721	1.6e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181199

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,849,863 (GRCm39)	D191G	probably benign	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Cdh12	C	T	15: 21,492,740 (GRCm39)	T253I	probably damaging	Het
Cox4i2	C	T	2: 152,599,011 (GRCm39)	T56I	possibly damaging	Het
Cpsf1	A	C	15: 76,481,527 (GRCm39)	D1141E	possibly damaging	Het
Dennd5b	T	C	6: 148,920,847 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,128,672 (GRCm39)	D1194E	probably damaging	Het
Dst	C	A	1: 34,228,409 (GRCm39)	H1676N	probably benign	Het
Eif4a3l1	T	C	6: 136,306,568 (GRCm39)	V343A	probably damaging	Het
Fitm1	A	G	14: 55,813,154 (GRCm39)	T6A	probably benign	Het
Galnt5	T	A	2: 57,904,922 (GRCm39)	V495E	probably damaging	Het
Gtf2h2	C	A	13: 100,617,544 (GRCm39)	R206L	possibly damaging	Het
Heatr5a	A	T	12: 52,005,734 (GRCm39)	Y80*	probably null	Het
Il17ra	A	G	6: 120,455,434 (GRCm39)	R348G	probably benign	Het
Mmp28	A	T	11: 83,334,733 (GRCm39)	Y340*	probably null	Het
Mrgprb8	A	T	7: 48,038,778 (GRCm39)	T150S	probably benign	Het
Ms4a10	A	T	19: 10,945,484 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Mybbp1a	T	C	11: 72,336,998 (GRCm39)	L578P	probably damaging	Het
N4bp2l1	G	A	5: 150,496,420 (GRCm39)	R65*	probably null	Het
Nhsl3	GGTG	GGTGTG	4: 129,117,773 (GRCm39)		probably null	Het
Nup188	T	A	2: 30,216,505 (GRCm39)	Y770N	probably damaging	Het
Or8b3b	T	C	9: 38,584,600 (GRCm39)	I60V	probably benign	Het
Or8s5	T	A	15: 98,238,253 (GRCm39)	T206S	probably benign	Het
Pbrm1	T	A	14: 30,827,381 (GRCm39)	C1257S	probably damaging	Het
Pcdh8	T	C	14: 80,004,942 (GRCm39)	T1028A	probably damaging	Het
Pramel16	C	T	4: 143,676,550 (GRCm39)	E185K	probably benign	Het
Qars1	C	T	9: 108,390,117 (GRCm39)	P348S	possibly damaging	Het
Qrfpr	T	A	3: 36,276,075 (GRCm39)	Q105L	possibly damaging	Het
Slc10a5	A	T	3: 10,399,377 (GRCm39)	Y428N	probably benign	Het
Slc16a5	A	T	11: 115,360,630 (GRCm39)	Y271F	probably benign	Het
Slc1a4	T	A	11: 20,254,429 (GRCm39)	Q479L	possibly damaging	Het
Slc38a1	C	T	15: 96,488,355 (GRCm39)	G143S	probably damaging	Het
Susd1	G	A	4: 59,369,577 (GRCm39)	T364M	probably benign	Het
Tmem132c	T	A	5: 127,628,587 (GRCm39)	Y496*	probably null	Het
Tmem63b	A	G	17: 45,975,884 (GRCm39)	I523T	probably damaging	Het
Tnrc6c	T	C	11: 117,651,669 (GRCm39)	S1731P	possibly damaging	Het
Ttll3	T	A	6: 113,370,078 (GRCm39)	W139R	probably damaging	Het
Ubr4	C	T	4: 139,187,401 (GRCm39)	T3823M	probably damaging	Het
Vangl1	T	A	3: 102,091,762 (GRCm39)	D108V	possibly damaging	Het
Vmn1r120	T	C	7: 20,787,482 (GRCm39)	I76M	probably benign	Het
Wdr17	A	G	8: 55,156,886 (GRCm39)	Y17H	probably damaging	Het
Xkr4	C	T	1: 3,287,153 (GRCm39)	A346T	probably damaging	Het
Zfp267	C	G	3: 36,219,640 (GRCm39)	H554Q	possibly damaging	Het

Other mutations in Zfp600

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4131001:Zfp600	UTSW	4	146,131,802 (GRCm39)	frame shift	probably null
R1004:Zfp600	UTSW	4	146,133,103 (GRCm39)	unclassified	probably benign
R1323:Zfp600	UTSW	4	146,133,261 (GRCm39)	missense	probably damaging	1.00
R1323:Zfp600	UTSW	4	146,133,261 (GRCm39)	missense	probably damaging	1.00
R1702:Zfp600	UTSW	4	146,133,497 (GRCm39)	missense	probably benign	0.04
R2165:Zfp600	UTSW	4	146,133,488 (GRCm39)	nonsense	probably null
R5238:Zfp600	UTSW	4	146,131,741 (GRCm39)	splice site	probably null
R5646:Zfp600	UTSW	4	146,131,670 (GRCm39)	missense	probably damaging	1.00
R5948:Zfp600	UTSW	4	146,131,645 (GRCm39)	missense	probably damaging	0.96
R6112:Zfp600	UTSW	4	146,131,701 (GRCm39)	missense	probably benign	0.41
R7044:Zfp600	UTSW	4	146,131,892 (GRCm39)	nonsense	probably null
R7836:Zfp600	UTSW	4	146,133,523 (GRCm39)	missense	probably benign
R8080:Zfp600	UTSW	4	146,133,182 (GRCm39)	missense	unknown
R8749:Zfp600	UTSW	4	146,133,151 (GRCm39)	missense	unknown
R9255:Zfp600	UTSW	4	146,131,673 (GRCm39)	missense	possibly damaging	0.70
Z1176:Zfp600	UTSW	4	146,133,209 (GRCm39)	missense	unknown
Z1177:Zfp600	UTSW	4	146,133,333 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAATGCAGTGAGTGTGACA -3'
(R):5'- CACTACATTTGTAAGGTTTCTCTCC -3'

Sequencing Primer
(F):5'- GTGAATGCGACAAATGCTTTACCC -3'
(R):5'- GTCAGTAAAGCATTTGCCGC -3'

Posted On

2016-10-24