Mutagenetix > Incidental Mutation

Incidental Mutation 'R8749:Zfp600'

663699

Institutional Source

Beutler Lab

Gene Symbol

Zfp600

Ensembl Gene

ENSMUSG00000066007

Gene Name

zinc finger protein 600

Synonyms

Gm13164

MMRRC Submission

068592-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R8749 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146093397-146135326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146133151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 606 (H606Q)

Ref Sequence

ENSEMBL: ENSMUSP00000090425 (fasta)

Gene Model

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

AlphaFold

A2A7V0

Predicted Effect

unknown
Transcript: ENSMUST00000092750
AA Change: H606Q

SMART Domains

Protein: ENSMUSP00000090425
Gene: ENSMUSG00000066007
AA Change: H606Q

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

unknown
Transcript: ENSMUST00000168483
AA Change: H606Q

SMART Domains

Protein: ENSMUSP00000126879
Gene: ENSMUSG00000066007
AA Change: H606Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	C	T	13: 4,320,155 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,664,725 (GRCm39)	M888K	unknown	Het
Arhgap23	T	A	11: 97,391,641 (GRCm39)	V223E	probably damaging	Het
Atm	C	T	9: 53,410,497 (GRCm39)	W1028*	probably null	Het
Atp7b	A	G	8: 22,518,334 (GRCm39)	V168A	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Caskin1	C	T	17: 24,723,774 (GRCm39)	A854V	probably benign	Het
Cdcp1	T	C	9: 123,019,027 (GRCm39)	N84S	probably benign	Het
Cdh20	T	A	1: 110,027,009 (GRCm39)	I475N	probably damaging	Het
Ciz1	A	T	2: 32,255,848 (GRCm39)	Y107F	probably benign	Het
Creb3l4	T	C	3: 90,145,199 (GRCm39)	N318D	probably benign	Het
Dmrt3	G	A	19: 25,588,550 (GRCm39)	A130T	probably benign	Het
Dmxl1	A	T	18: 50,088,937 (GRCm39)	K2805N	probably damaging	Het
Dusp15	T	A	2: 152,788,209 (GRCm39)	I63F	probably damaging	Het
Dync2h1	T	C	9: 7,035,063 (GRCm39)	Q3462R	probably benign	Het
Evpl	A	G	11: 116,120,232 (GRCm39)	C569R	probably benign	Het
Fmnl3	A	T	15: 99,219,322 (GRCm39)	M766K	possibly damaging	Het
G6pc2	A	G	2: 69,057,140 (GRCm39)	N262S	probably damaging	Het
Galk1	A	T	11: 115,899,762 (GRCm39)	L325Q	probably damaging	Het
H3c3	T	C	13: 23,929,108 (GRCm39)	I125V	probably benign	Het
Hr	G	A	14: 70,795,510 (GRCm39)	G352R	probably damaging	Het
Il12b	A	T	11: 44,294,864 (GRCm39)	M1L	not run	Het
Lpar6	A	T	14: 73,476,950 (GRCm39)	M304L	probably benign	Het
Mpeg1	G	A	19: 12,439,291 (GRCm39)	A250T	probably benign	Het
Mtcl3	T	C	10: 29,072,721 (GRCm39)	I671T	possibly damaging	Het
Neb	T	C	2: 52,180,863 (GRCm39)	K1221R	probably benign	Het
Ogfrl1	T	A	1: 23,409,399 (GRCm39)	I276F	probably damaging	Het
Or4f62	A	G	2: 111,986,869 (GRCm39)	D191G	possibly damaging	Het
Or4k37	T	C	2: 111,158,817 (GRCm39)	C18R	possibly damaging	Het
Or4x12-ps1	T	C	2: 89,916,631 (GRCm39)	Y58C	probably damaging	Het
Oxr1	A	G	15: 41,574,260 (GRCm39)	N2S	probably benign	Het
P3h3	G	A	6: 124,822,940 (GRCm39)	R505C	probably damaging	Het
Pcdhb16	A	T	18: 37,612,392 (GRCm39)	I451F	possibly damaging	Het
Pet117	C	A	2: 144,215,122 (GRCm39)	D36E	probably benign	Het
Prf1	T	C	10: 61,138,948 (GRCm39)	V302A	probably damaging	Het
Prkdc	G	A	16: 15,601,029 (GRCm39)	A2897T	possibly damaging	Het
Prkra	A	G	2: 76,460,879 (GRCm39)	L273P	probably damaging	Het
Prr30	T	A	14: 101,436,365 (GRCm39)	T66S	probably benign	Het
Slc29a4	A	G	5: 142,700,819 (GRCm39)	Y188C	probably damaging	Het
Spink5	A	T	18: 44,122,425 (GRCm39)	K297*	probably null	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tmem100	G	A	11: 89,926,574 (GRCm39)	A134T	probably damaging	Het
Tmem132c	A	G	5: 127,437,003 (GRCm39)	D164G	possibly damaging	Het
Tnfsf18	A	G	1: 161,331,047 (GRCm39)	T66A	possibly damaging	Het
Ubr4	C	T	4: 139,129,935 (GRCm39)	T685I	probably damaging	Het
Uck1	T	C	2: 32,146,524 (GRCm39)	Y185C		Het
Umod	T	A	7: 119,070,639 (GRCm39)	I418F	probably benign	Het
Upp1	A	T	11: 9,079,561 (GRCm39)	S41C	probably damaging	Het
Vmn1r168	A	T	7: 23,240,428 (GRCm39)	Y95F	probably benign	Het
Vmn1r180	G	T	7: 23,652,415 (GRCm39)	D193Y	probably damaging	Het
Vmn2r11	A	G	5: 109,195,319 (GRCm39)	V669A	probably damaging	Het
Vmn2r55	T	A	7: 12,385,796 (GRCm39)	Y728F	probably damaging	Het
Vmn2r78	A	G	7: 86,603,513 (GRCm39)	T564A	possibly damaging	Het
Vps13d	T	A	4: 144,865,183 (GRCm39)	N2057I		Het
Wdfy3	C	T	5: 102,030,446 (GRCm39)	R2354Q	probably damaging	Het
Wdr77	T	A	3: 105,866,975 (GRCm39)	C26S	probably damaging	Het
Yif1b	C	T	7: 28,946,690 (GRCm39)	A267V	probably benign	Het
Zfp316	A	G	5: 143,248,565 (GRCm39)	V227A	unknown	Het
Zfp804a	T	C	2: 82,087,919 (GRCm39)	W583R	probably benign	Het
Zfp961	T	C	8: 72,719,686 (GRCm39)	W39R	probably damaging	Het
Zfp990	T	A	4: 145,264,156 (GRCm39)	C385S	probably 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
R5548:Zfp600	UTSW	4	146,133,019 (GRCm39)	missense	possibly damaging	0.86
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
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'- GACAAAGGCAGTCTCAGAGTT -3'
(R):5'- ACTGTGTTTGTCACTAAAGCATTT -3'

Sequencing Primer
(F):5'- GGCAGTCTCAGAGTTCATCAG -3'
(R):5'- CGGGTAAAGCATTTGTCACATTCAC -3'

Posted On

2021-03-08