Mutagenetix > Incidental Mutation

Incidental Mutation 'R9045:Zfc3h1'

688001

Institutional Source

Beutler Lab

Gene Symbol

Zfc3h1

Ensembl Gene

ENSMUSG00000034163

Gene Name

zinc finger, C3H1-type containing

Synonyms

Ccdc131, Psrc2

MMRRC Submission

068872-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R9045 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115220864-115268677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115263319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1761 (Q1761K)

Ref Sequence

ENSEMBL: ENSMUSP00000044069 (fasta)

Gene Model

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

AlphaFold

B2RT41

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036044
AA Change: Q1761K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: Q1761K

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

Meta Mutation Damage Score

0.0795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	C	8: 33,919,362 (GRCm39)	M61L		Het
9130401M01Rik	G	T	15: 57,892,130 (GRCm39)	A223E	possibly damaging	Het
Adgra1	T	G	7: 139,432,566 (GRCm39)	L135V	possibly damaging	Het
Aida	A	G	1: 183,094,940 (GRCm39)	E127G	possibly damaging	Het
Ankrd31	T	A	13: 96,968,034 (GRCm39)	L557*	probably null	Het
Atxn7l3	T	A	11: 102,183,272 (GRCm39)	T221S	probably damaging	Het
Bbs7	A	G	3: 36,666,184 (GRCm39)	S27P	probably benign	Het
Cela3b	A	T	4: 137,152,110 (GRCm39)	C116S	possibly damaging	Het
Clstn3	A	C	6: 124,408,921 (GRCm39)	M909R	probably damaging	Het
Cnot2	T	C	10: 116,322,160 (GRCm39)	E523G	probably benign	Het
Col12a1	T	A	9: 79,582,034 (GRCm39)	T1406S	probably benign	Het
Cr2	A	T	1: 194,837,680 (GRCm39)	N763K	possibly damaging	Het
Csmd1	A	G	8: 16,284,088 (GRCm39)	F557L	probably damaging	Het
Cyth1	T	C	11: 118,073,090 (GRCm39)	H270R	possibly damaging	Het
Epg5	T	C	18: 77,992,014 (GRCm39)	L237P	probably damaging	Het
Fbxo36	G	A	1: 84,874,300 (GRCm39)	D99N	probably damaging	Het
Fcgbpl1	T	A	7: 27,853,856 (GRCm39)	C1607S	probably damaging	Het
Flot2	A	G	11: 77,950,023 (GRCm39)	I417M	probably benign	Het
Fryl	A	G	5: 73,182,118 (GRCm39)	L143P		Het
Gckr	A	G	5: 31,457,353 (GRCm39)	N122S	possibly damaging	Het
Gm3250	T	A	10: 77,617,932 (GRCm39)	T149S	unknown	Het
Golga3	G	A	5: 110,340,963 (GRCm39)	M552I	probably benign	Het
Grip1	T	A	10: 119,871,356 (GRCm39)	D694E	probably damaging	Het
Heatr1	T	C	13: 12,428,233 (GRCm39)	V790A	probably benign	Het
Ighv1-54	G	A	12: 115,157,500 (GRCm39)	T49I	probably benign	Het
Iglv1	A	G	16: 18,904,053 (GRCm39)	V22A	probably benign	Het
Lama1	A	T	17: 68,060,838 (GRCm39)	Y722F		Het
Laptm5	A	T	4: 130,655,955 (GRCm39)	E91V		Het
Lrig1	A	G	6: 94,585,688 (GRCm39)		probably null	Het
Mcph1	T	G	8: 18,682,443 (GRCm39)	S527A	probably benign	Het
Med13l	G	T	5: 118,880,816 (GRCm39)	V1303L	probably benign	Het
Mindy4	A	G	6: 55,295,283 (GRCm39)	D741G	probably benign	Het
Myo15b	T	A	11: 115,783,178 (GRCm39)	*3034R	probably null	Het
Nfkbie	A	T	17: 45,872,959 (GRCm39)	K354I	probably damaging	Het
Npat	A	G	9: 53,474,776 (GRCm39)	N856S	possibly damaging	Het
Nr2c2ap	A	G	8: 70,585,808 (GRCm39)	D122G	probably damaging	Het
Nr4a3	C	A	4: 48,067,694 (GRCm39)	T430K	possibly damaging	Het
Or12e10	C	A	2: 87,640,416 (GRCm39)	S84Y	probably damaging	Het
Or52ab4	T	G	7: 102,987,903 (GRCm39)	I214R	probably damaging	Het
Or5h25	A	G	16: 58,930,365 (GRCm39)	S203P	probably benign	Het
Otud7b	A	G	3: 96,059,895 (GRCm39)	K397E	probably benign	Het
Pafah1b3	G	T	7: 24,996,898 (GRCm39)		probably benign	Het
Pcdhgc3	G	T	18: 37,940,669 (GRCm39)	V357L	probably damaging	Het
Pde2a	A	G	7: 101,152,498 (GRCm39)	T354A	unknown	Het
Pira12	A	G	7: 3,897,547 (GRCm39)	I516T	possibly damaging	Het
Rbfa	T	C	18: 80,236,026 (GRCm39)	H241R	probably damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rps6ka1	C	T	4: 133,600,150 (GRCm39)		probably benign	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Sbno1	A	G	5: 124,543,720 (GRCm39)	V273A	probably benign	Het
Scg3	T	C	9: 75,570,522 (GRCm39)	N344S	probably damaging	Het
Serpinb1c	C	G	13: 33,066,027 (GRCm39)	G306A	probably benign	Het
Sh2d6	C	T	6: 72,492,604 (GRCm39)	G206D	probably benign	Het
Slamf9	G	A	1: 172,304,938 (GRCm39)	S184N	probably damaging	Het
Slc50a1	T	C	3: 89,176,042 (GRCm39)	T168A	probably damaging	Het
Tas2r124	G	C	6: 132,732,034 (GRCm39)	W114C	probably damaging	Het
Tgm4	C	T	9: 122,877,616 (GRCm39)	T206I	possibly damaging	Het
Tmem52	A	G	4: 155,553,899 (GRCm39)		probably null	Het
Vmn2r102	A	G	17: 19,880,841 (GRCm39)	K61E	probably benign	Het
Vmn2r58	T	C	7: 41,487,087 (GRCm39)	I603V	probably benign	Het
Vstm2l	G	T	2: 157,756,795 (GRCm39)	G22V	unknown	Het
Vwa5b1	T	A	4: 138,315,990 (GRCm39)	Y584F	probably damaging	Het
Wdfy3	A	T	5: 101,995,040 (GRCm39)	V3233D	probably damaging	Het
Wdhd1	A	G	14: 47,511,409 (GRCm39)	V101A	probably benign	Het
Zfp180	G	A	7: 23,804,315 (GRCm39)	V245I	probably benign	Het
Zfp846	A	T	9: 20,505,189 (GRCm39)	I350L	probably benign	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
R6723:Zfc3h1	UTSW	10	115,256,638 (GRCm39)	missense	probably benign	0.34
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
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'- TGGTGAGACATTCCCCACTG -3'
(R):5'- TGGTGCTTCAGAATAATTAAGCCAG -3'

Sequencing Primer
(F):5'- AAGACGCTGCATGCTCAG -3'
(R):5'- AGAATAATTAAGCCAGTAACTCAGC -3'

Posted On

2021-11-19