Mutagenetix > Incidental Mutation

Incidental Mutation 'R9633:Zfc3h1'

725671

Institutional Source

Beutler Lab

Gene Symbol

Zfc3h1

Ensembl Gene

ENSMUSG00000034163

Gene Name

zinc finger, C3H1-type containing

Synonyms

Ccdc131, Psrc2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R9633 (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 115247852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1018 (H1018Q)

Ref Sequence

ENSEMBL: ENSMUSP00000044069 (fasta)

Gene Model

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

AlphaFold

B2RT41

Predicted Effect

probably damaging
Transcript: ENSMUST00000036044
AA Change: H1018Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: H1018Q

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,613,178 (GRCm39)	V319A	probably damaging	Het
Afap1l1	A	C	18: 61,890,795 (GRCm39)	S53A	possibly damaging	Het
Alms1	T	A	6: 85,600,125 (GRCm39)	N1650K	probably damaging	Het
Atf6b	T	A	17: 34,872,507 (GRCm39)	V553E	possibly damaging	Het
Avl9	T	A	6: 56,707,634 (GRCm39)	I193N	probably damaging	Het
Ceacam3	A	G	7: 16,895,688 (GRCm39)	N553D		Het
Dnah3	C	A	7: 119,550,216 (GRCm39)	V389L	probably benign	Het
Erich6	T	C	3: 58,537,277 (GRCm39)	M246V	probably benign	Het
F830016B08Rik	A	T	18: 60,432,965 (GRCm39)	D16V	probably damaging	Het
Fgfr1	T	A	8: 26,060,776 (GRCm39)	Y483N	probably damaging	Het
Fmo4	T	A	1: 162,631,191 (GRCm39)	M259L	probably benign	Het
Gnat2	T	A	3: 108,002,770 (GRCm39)	D59E	probably benign	Het
Izumo3	T	A	4: 92,034,795 (GRCm39)	Y94F	probably damaging	Het
Kcnb2	A	T	1: 15,781,444 (GRCm39)	H772L	probably benign	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Krt6b	C	T	15: 101,586,996 (GRCm39)	V259M	probably benign	Het
Lingo2	A	G	4: 35,709,885 (GRCm39)	C32R		Het
Lrrtm4	C	T	6: 80,000,064 (GRCm39)	T492M	probably damaging	Het
Maea	T	A	5: 33,526,050 (GRCm39)	M242K	possibly damaging	Het
Mdga2	T	C	12: 66,736,206 (GRCm39)	T341A	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mmadhc	A	T	2: 50,178,988 (GRCm39)	S143R	probably benign	Het
Ms4a8a	A	G	19: 11,056,956 (GRCm39)	V42A	probably benign	Het
N4bp2l2	A	T	5: 150,585,103 (GRCm39)	H292Q	probably benign	Het
Nkx2-2	A	G	2: 147,027,686 (GRCm39)	Y85H	possibly damaging	Het
Pramel14	T	C	4: 143,720,818 (GRCm39)	K41R	possibly damaging	Het
Psmb9	T	A	17: 34,402,119 (GRCm39)	D159V	probably damaging	Het
Rgs4	T	A	1: 169,572,843 (GRCm39)	D31V	possibly damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc22a14	A	G	9: 119,008,528 (GRCm39)	S247P	probably benign	Het
Slc26a7	G	A	4: 14,524,540 (GRCm39)	T448I	possibly damaging	Het
Slc7a14	T	A	3: 31,278,166 (GRCm39)	T480S	probably benign	Het
Spocd1	T	C	4: 129,850,463 (GRCm39)	S830P	unknown	Het
Sycp2	A	G	2: 177,998,254 (GRCm39)	S1089P	probably damaging	Het
Tcf4	A	T	18: 69,726,382 (GRCm39)		probably benign	Het
Tktl2	T	C	8: 66,965,813 (GRCm39)	V457A	probably benign	Het
Tmem131	A	T	1: 36,847,069 (GRCm39)	I1343N	probably damaging	Het
Tnrc6c	G	A	11: 117,638,009 (GRCm39)	A1164T	probably damaging	Het
Tomm5	G	A	4: 45,107,982 (GRCm39)	R18W	probably damaging	Het
Ubxn7	T	C	16: 32,200,248 (GRCm39)	S335P	probably benign	Het
Unc5c	A	C	3: 141,495,654 (GRCm39)	T508P	probably damaging	Het
Upp1	G	A	11: 9,084,909 (GRCm39)	M209I		Het
Vmn1r213	A	G	13: 23,195,519 (GRCm39)	D34G	unknown	Het
Vmn1r235	G	T	17: 21,482,330 (GRCm39)	W218C	possibly damaging	Het
Vmn1r235	G	T	17: 21,482,329 (GRCm39)	W218L	probably benign	Het
Vmn2r57	T	C	7: 41,076,006 (GRCm39)	E502G	probably benign	Het
Wwc2	GCC	GCCC	8: 48,304,959 (GRCm39)		probably null	Het
Zfp318	T	A	17: 46,710,421 (GRCm39)	S715T	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
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
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
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'- CAAGTCCAAGGAAGCATTCAG -3'
(R):5'- TTACCTGGCCATGCAGAAC -3'

Sequencing Primer
(F):5'- GCATTCAGCAGAATTAATTGCTATGG -3'
(R):5'- TGGCCATGCAGAACTTTTTC -3'

Posted On

2022-09-12