Mutagenetix > Incidental Mutation

Incidental Mutation 'R6723:Zfc3h1'

529700

Institutional Source

Beutler Lab

Gene Symbol

Zfc3h1

Ensembl Gene

ENSMUSG00000034163

Gene Name

zinc finger, C3H1-type containing

Synonyms

Ccdc131, Psrc2

MMRRC Submission

044841-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R6723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115220864-115268677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115256638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1536 (I1536N)

Ref Sequence

ENSEMBL: ENSMUSP00000044069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036044]

AlphaFold

B2RT41

Predicted Effect

probably benign
Transcript: ENSMUST00000036044
AA Change: I1536N

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: I1536N

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	29	90	N/A	INTRINSIC
low complexity region	120	132	N/A	INTRINSIC
low complexity region	143	214	N/A	INTRINSIC
coiled coil region	361	393	N/A	INTRINSIC
low complexity region	399	432	N/A	INTRINSIC
coiled coil region	436	491	N/A	INTRINSIC
low complexity region	543	556	N/A	INTRINSIC
low complexity region	564	583	N/A	INTRINSIC
low complexity region	595	619	N/A	INTRINSIC
low complexity region	623	636	N/A	INTRINSIC
low complexity region	716	729	N/A	INTRINSIC
low complexity region	752	763	N/A	INTRINSIC
coiled coil region	826	889	N/A	INTRINSIC
coiled coil region	968	1000	N/A	INTRINSIC
low complexity region	1001	1015	N/A	INTRINSIC
Pfam:zf-C3H1	1187	1208	1.3e-11	PFAM
HAT	1384	1416	1.11e0	SMART
HAT	1418	1449	4.35e2	SMART
Blast:HAT	1495	1538	2e-9	BLAST
HAT	1653	1685	3.31e1	SMART
HAT	1762	1797	7.03e1	SMART
HAT	1922	1954	1.29e-1	SMART
low complexity region	1975	1992	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	A	G	12: 112,745,228 (GRCm39)	S740P	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Bcl11a	C	A	11: 24,113,646 (GRCm39)	P330T	probably damaging	Het
Cyp2d12	A	T	15: 82,441,085 (GRCm39)	I124F	probably benign	Het
Dhdds	T	C	4: 133,721,576 (GRCm39)	T74A	probably damaging	Het
Dio3	G	A	12: 110,245,991 (GRCm39)	C109Y	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock7	A	G	4: 98,892,153 (GRCm39)	V811A	possibly damaging	Het
Efcab3	A	T	11: 105,007,906 (GRCm39)	T329S	possibly damaging	Het
Esp1	A	T	17: 41,039,747 (GRCm39)	I11L	probably benign	Het
Fam13b	A	T	18: 34,631,079 (GRCm39)	H33Q	possibly damaging	Het
Fam13c	G	A	10: 70,390,355 (GRCm39)	D539N	probably damaging	Het
Fgd5	A	G	6: 91,965,011 (GRCm39)	T257A	probably benign	Het
Gm5134	A	G	10: 75,844,453 (GRCm39)	D603G	probably benign	Het
Gtpbp2	T	C	17: 46,479,202 (GRCm39)	V588A	probably benign	Het
Ift140	A	G	17: 25,252,090 (GRCm39)	I312M	probably benign	Het
Inpp5j	T	C	11: 3,450,640 (GRCm39)	N571S	probably damaging	Het
Iqgap1	T	G	7: 80,373,570 (GRCm39)	D1473A	probably benign	Het
Ivl	T	G	3: 92,478,694 (GRCm39)	K457T	unknown	Het
Kdm3b	T	C	18: 34,926,058 (GRCm39)	I66T	probably damaging	Het
Kif21a	A	T	15: 90,824,649 (GRCm39)	M1430K	probably damaging	Het
Klhl25	T	A	7: 75,515,739 (GRCm39)	L215Q	possibly damaging	Het
Lim2	T	A	7: 43,085,099 (GRCm39)	M163K	probably benign	Het
Lrig1	T	C	6: 94,603,386 (GRCm39)	D254G	probably damaging	Het
Mff	A	G	1: 82,729,387 (GRCm39)	I122V	possibly damaging	Het
Mrpl15	A	C	1: 4,852,789 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,750,258 (GRCm39)	Y1199C	possibly damaging	Het
Nlrp3	G	A	11: 59,456,018 (GRCm39)	C938Y	probably damaging	Het
Notch1	T	C	2: 26,368,118 (GRCm39)	N623D	probably damaging	Het
Obscn	T	G	11: 58,945,824 (GRCm39)	E4129A	probably damaging	Het
Or10a49	A	T	7: 108,467,795 (GRCm39)	C189S	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4d11	A	G	19: 12,013,639 (GRCm39)	S156P	probably damaging	Het
Or5k1	T	C	16: 58,617,795 (GRCm39)	K138R	probably benign	Het
Or6c65	A	T	10: 129,604,284 (GRCm39)	L306F	probably benign	Het
Parm1	C	T	5: 91,770,856 (GRCm39)	P291S	probably damaging	Het
Pcsk1	T	A	13: 75,241,188 (GRCm39)		probably null	Het
Pgap6	C	A	17: 26,339,610 (GRCm39)	T616N	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Piezo1	T	G	8: 123,234,366 (GRCm39)	Q93H	probably benign	Het
Pkd2l2	A	T	18: 34,571,210 (GRCm39)	Y575F	probably damaging	Het
Plekhn1	A	C	4: 156,309,026 (GRCm39)	F258C	probably damaging	Het
Pole	C	T	5: 110,471,482 (GRCm39)	H1409Y	probably benign	Het
Rae1	T	C	2: 172,854,041 (GRCm39)	I273T	probably damaging	Het
Rag1	A	G	2: 101,473,990 (GRCm39)	V384A	probably damaging	Het
Rnaseh1	T	C	12: 28,699,761 (GRCm39)	L25P	probably damaging	Het
Serpinb12	A	G	1: 106,876,888 (GRCm39)	H68R	probably benign	Het
Sh3tc2	A	T	18: 62,111,025 (GRCm39)	I294F	probably damaging	Het
Sirpb1b	A	C	3: 15,613,858 (GRCm39)	L75V	possibly damaging	Het
Slc12a6	A	T	2: 112,168,287 (GRCm39)	T277S	probably damaging	Het
Slc7a12	A	T	3: 14,564,257 (GRCm39)	E43D	probably benign	Het
Spata31d1c	T	A	13: 65,183,758 (GRCm39)	D433E	probably benign	Het
Spata31h1	T	C	10: 82,125,657 (GRCm39)	Y2451C	possibly damaging	Het
Tbl2	A	T	5: 135,188,130 (GRCm39)	Y308F	probably damaging	Het
Tfec	T	C	6: 16,835,301 (GRCm39)	Y159C	probably damaging	Het
Top1mt	G	T	15: 75,539,282 (GRCm39)	T371K	probably benign	Het
Trim24	T	C	6: 37,928,403 (GRCm39)	V541A	probably benign	Het
Ttc16	T	C	2: 32,658,049 (GRCm39)	Y456C	possibly damaging	Het
Ttn	G	A	2: 76,600,441 (GRCm39)	R17204*	probably null	Het
Ugt1a6b	T	C	1: 88,035,439 (GRCm39)	V259A	probably benign	Het
Unc5a	T	C	13: 55,143,702 (GRCm39)	W129R	probably benign	Het
Vmn1r63	T	A	7: 5,805,948 (GRCm39)	H228L	probably damaging	Het
Whamm	G	T	7: 81,245,868 (GRCm39)	V775F	probably damaging	Het
Zfp1	T	C	8: 112,396,971 (GRCm39)	S317P	probably damaging	Het
Zfp58	T	C	13: 67,642,192 (GRCm39)	T52A	probably damaging	Het

Other mutations in Zfc3h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00698:Zfc3h1	APN	10	115,255,737 (GRCm39)	missense	possibly damaging	0.92
IGL00793:Zfc3h1	APN	10	115,252,779 (GRCm39)	missense	probably benign	0.00
IGL01349:Zfc3h1	APN	10	115,259,353 (GRCm39)	missense	probably damaging	1.00
IGL01431:Zfc3h1	APN	10	115,259,128 (GRCm39)	missense	possibly damaging	0.49
IGL02273:Zfc3h1	APN	10	115,263,004 (GRCm39)	missense	probably benign
IGL02382:Zfc3h1	APN	10	115,252,781 (GRCm39)	nonsense	probably null
IGL02397:Zfc3h1	APN	10	115,243,890 (GRCm39)	missense	probably damaging	1.00
IGL02657:Zfc3h1	APN	10	115,247,859 (GRCm39)	missense	possibly damaging	0.48
IGL02826:Zfc3h1	APN	10	115,236,809 (GRCm39)	missense	probably benign	0.42
Gnatcatcher	UTSW	10	115,236,647 (GRCm39)	missense	probably benign	0.39
hutton	UTSW	10	115,251,153 (GRCm39)	missense	probably damaging	0.96
passerine	UTSW	10	115,249,916 (GRCm39)	missense	possibly damaging	0.56
R0178_Zfc3h1_655	UTSW	10	115,242,630 (GRCm39)	splice site	probably benign
vireo	UTSW	10	115,255,806 (GRCm39)	missense	probably benign	0.01
warbler	UTSW	10	115,242,388 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Zfc3h1	UTSW	10	115,226,794 (GRCm39)	missense	probably damaging	0.99
PIT4354001:Zfc3h1	UTSW	10	115,262,944 (GRCm39)	nonsense	probably null
R0062:Zfc3h1	UTSW	10	115,252,658 (GRCm39)	missense	probably benign	0.00
R0062:Zfc3h1	UTSW	10	115,252,658 (GRCm39)	missense	probably benign	0.00
R0067:Zfc3h1	UTSW	10	115,259,379 (GRCm39)	missense	possibly damaging	0.88
R0067:Zfc3h1	UTSW	10	115,259,379 (GRCm39)	missense	possibly damaging	0.88
R0104:Zfc3h1	UTSW	10	115,251,192 (GRCm39)	missense	possibly damaging	0.66
R0178:Zfc3h1	UTSW	10	115,242,630 (GRCm39)	splice site	probably benign
R0355:Zfc3h1	UTSW	10	115,245,018 (GRCm39)	missense	possibly damaging	0.80
R0619:Zfc3h1	UTSW	10	115,256,715 (GRCm39)	missense	possibly damaging	0.92
R0731:Zfc3h1	UTSW	10	115,246,537 (GRCm39)	missense	probably benign	0.00
R0828:Zfc3h1	UTSW	10	115,237,612 (GRCm39)	missense	possibly damaging	0.68
R0866:Zfc3h1	UTSW	10	115,263,621 (GRCm39)	missense	probably benign	0.00
R1196:Zfc3h1	UTSW	10	115,247,866 (GRCm39)	missense	probably damaging	0.99
R1455:Zfc3h1	UTSW	10	115,248,013 (GRCm39)	missense	probably benign	0.11
R1515:Zfc3h1	UTSW	10	115,252,647 (GRCm39)	missense	probably benign	0.29
R1617:Zfc3h1	UTSW	10	115,226,827 (GRCm39)	missense	probably benign	0.01
R1640:Zfc3h1	UTSW	10	115,242,806 (GRCm39)	splice site	probably null
R1959:Zfc3h1	UTSW	10	115,259,158 (GRCm39)	missense	probably benign	0.34
R2039:Zfc3h1	UTSW	10	115,242,388 (GRCm39)	missense	probably damaging	1.00
R3430:Zfc3h1	UTSW	10	115,246,428 (GRCm39)	splice site	probably benign
R3691:Zfc3h1	UTSW	10	115,256,595 (GRCm39)	missense	probably benign
R3909:Zfc3h1	UTSW	10	115,255,806 (GRCm39)	missense	probably benign	0.01
R4235:Zfc3h1	UTSW	10	115,254,704 (GRCm39)	missense	probably benign	0.32
R4684:Zfc3h1	UTSW	10	115,259,290 (GRCm39)	missense	probably benign	0.03
R4816:Zfc3h1	UTSW	10	115,251,599 (GRCm39)	missense	probably benign	0.16
R4881:Zfc3h1	UTSW	10	115,236,647 (GRCm39)	missense	probably benign	0.39
R4883:Zfc3h1	UTSW	10	115,246,547 (GRCm39)	missense	probably damaging	1.00
R5038:Zfc3h1	UTSW	10	115,240,116 (GRCm39)	missense	probably benign	0.16
R5068:Zfc3h1	UTSW	10	115,254,688 (GRCm39)	nonsense	probably null
R5069:Zfc3h1	UTSW	10	115,254,688 (GRCm39)	nonsense	probably null
R5070:Zfc3h1	UTSW	10	115,254,688 (GRCm39)	nonsense	probably null
R5155:Zfc3h1	UTSW	10	115,248,026 (GRCm39)	missense	possibly damaging	0.64
R5190:Zfc3h1	UTSW	10	115,254,597 (GRCm39)	missense	probably damaging	1.00
R5499:Zfc3h1	UTSW	10	115,246,598 (GRCm39)	missense	probably damaging	1.00
R5932:Zfc3h1	UTSW	10	115,236,815 (GRCm39)	missense	probably benign	0.44
R5935:Zfc3h1	UTSW	10	115,267,262 (GRCm39)	intron	probably benign
R6165:Zfc3h1	UTSW	10	115,256,574 (GRCm39)	missense	probably benign	0.30
R6182:Zfc3h1	UTSW	10	115,226,764 (GRCm39)	missense	probably benign	0.00
R6262:Zfc3h1	UTSW	10	115,249,881 (GRCm39)	missense	probably damaging	1.00
R6382:Zfc3h1	UTSW	10	115,243,813 (GRCm39)	missense	probably benign	0.06
R6392:Zfc3h1	UTSW	10	115,237,653 (GRCm39)	missense	probably damaging	1.00
R6539:Zfc3h1	UTSW	10	115,247,907 (GRCm39)	missense	probably benign	0.26
R7339:Zfc3h1	UTSW	10	115,239,205 (GRCm39)	missense	probably damaging	1.00
R7381:Zfc3h1	UTSW	10	115,260,535 (GRCm39)	missense	probably benign
R7404:Zfc3h1	UTSW	10	115,251,153 (GRCm39)	missense	probably damaging	0.96
R7667:Zfc3h1	UTSW	10	115,246,606 (GRCm39)	nonsense	probably null
R7748:Zfc3h1	UTSW	10	115,236,720 (GRCm39)	missense	probably benign	0.27
R7910:Zfc3h1	UTSW	10	115,256,588 (GRCm39)	nonsense	probably null
R7914:Zfc3h1	UTSW	10	115,239,062 (GRCm39)	splice site	probably null
R8023:Zfc3h1	UTSW	10	115,256,553 (GRCm39)	missense	probably damaging	1.00
R8169:Zfc3h1	UTSW	10	115,254,616 (GRCm39)	missense	probably damaging	0.98
R8358:Zfc3h1	UTSW	10	115,240,198 (GRCm39)	missense	probably benign	0.13
R8746:Zfc3h1	UTSW	10	115,243,885 (GRCm39)	missense	probably damaging	1.00
R8803:Zfc3h1	UTSW	10	115,247,800 (GRCm39)	missense	probably benign
R8905:Zfc3h1	UTSW	10	115,259,383 (GRCm39)	missense	probably benign	0.05
R9045:Zfc3h1	UTSW	10	115,263,319 (GRCm39)	missense	possibly damaging	0.49
R9164:Zfc3h1	UTSW	10	115,259,374 (GRCm39)	missense	probably benign	0.17
R9211:Zfc3h1	UTSW	10	115,248,328 (GRCm39)	missense	possibly damaging	0.83
R9216:Zfc3h1	UTSW	10	115,221,528 (GRCm39)	missense	unknown
R9305:Zfc3h1	UTSW	10	115,255,771 (GRCm39)	missense	probably benign	0.19
R9372:Zfc3h1	UTSW	10	115,221,223 (GRCm39)	missense	unknown
R9394:Zfc3h1	UTSW	10	115,254,600 (GRCm39)	missense	probably damaging	1.00
R9414:Zfc3h1	UTSW	10	115,249,916 (GRCm39)	missense	possibly damaging	0.56
R9538:Zfc3h1	UTSW	10	115,221,197 (GRCm39)	missense	unknown
R9623:Zfc3h1	UTSW	10	115,259,362 (GRCm39)	missense	possibly damaging	0.94
R9633:Zfc3h1	UTSW	10	115,247,852 (GRCm39)	missense	probably damaging	1.00
R9747:Zfc3h1	UTSW	10	115,244,821 (GRCm39)	missense	possibly damaging	0.58
Z1176:Zfc3h1	UTSW	10	115,243,907 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTAGATGGAGAAACTCTGTCTTG -3'
(R):5'- CAACGGTTTTGTGACTTGTAATGC -3'

Sequencing Primer
(F):5'- GAGTCTTATTGTGGATGGAAATT -3'
(R):5'- GGTCTTGACATCTTGAGC -3'

Posted On

2018-08-01