Mutagenetix > Incidental Mutation

Incidental Mutation 'R8746:Zfc3h1'

663562

Institutional Source

Beutler Lab

Gene Symbol

Zfc3h1

Ensembl Gene

ENSMUSG00000034163

Gene Name

zinc finger, C3H1-type containing

Synonyms

Ccdc131, Psrc2

MMRRC Submission

068590-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R8746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115220864-115268677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115243885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 739 (S739P)

Ref Sequence

ENSEMBL: ENSMUSP00000044069 (fasta)

Gene Model

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

AlphaFold

B2RT41

Predicted Effect

probably damaging
Transcript: ENSMUST00000036044
AA Change: S739P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: S739P

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,451,529 (GRCm39)	M871K	probably benign	Het
5530400C23Rik	A	C	6: 133,271,256 (GRCm39)	E100A	possibly damaging	Het
Aatf	A	T	11: 84,402,338 (GRCm39)	I116N	probably benign	Het
Abcb11	G	T	2: 69,087,754 (GRCm39)		probably benign	Het
Adarb2	G	T	13: 8,802,680 (GRCm39)	A652S	probably benign	Het
Adgb	C	T	10: 10,281,028 (GRCm39)		probably null	Het
Ankrd34a	C	T	3: 96,504,791 (GRCm39)		probably benign	Het
Ano2	A	G	6: 125,840,513 (GRCm39)	I395V	probably benign	Het
Cadm2	C	A	16: 66,581,696 (GRCm39)	R203L	probably damaging	Het
Ccr2	T	C	9: 123,906,448 (GRCm39)	F243L	probably benign	Het
Ccr4	A	G	9: 114,321,918 (GRCm39)	V49A	probably damaging	Het
Cemip2	G	A	19: 21,803,465 (GRCm39)	G833R	probably damaging	Het
Corin	T	C	5: 72,592,695 (GRCm39)	D234G	probably benign	Het
Drd5	G	T	5: 38,477,433 (GRCm39)	R142I	probably benign	Het
Dsg1b	A	G	18: 20,529,056 (GRCm39)	D264G	probably damaging	Het
Ezh2	T	C	6: 47,553,534 (GRCm39)	K61R	probably damaging	Het
Frmd4b	T	A	6: 97,269,370 (GRCm39)	T981S	probably benign	Het
Gcg	T	A	2: 62,305,325 (GRCm39)	K180N	probably damaging	Het
Gm10840	G	A	11: 106,051,742 (GRCm39)	E23K	unknown	Het
Gm2696	T	G	10: 77,651,037 (GRCm39)	C174W	unknown	Het
Grin2b	T	C	6: 135,899,985 (GRCm39)	I299V	probably benign	Het
Hepacam	T	A	9: 37,293,030 (GRCm39)	V207E	probably damaging	Het
Igf1r	T	A	7: 67,864,745 (GRCm39)	M1181K	probably damaging	Het
Lmo2	T	C	2: 103,806,384 (GRCm39)	S96P	possibly damaging	Het
Marf1	T	A	16: 13,935,168 (GRCm39)	E1533D	probably benign	Het
Megf9	A	G	4: 70,353,511 (GRCm39)	C432R	probably damaging	Het
Mpp2	A	G	11: 101,954,040 (GRCm39)	Y236H	probably damaging	Het
Neb	T	C	2: 52,172,613 (GRCm39)	I1565V	probably damaging	Het
Or2y1f	A	G	11: 49,183,993 (GRCm39)		probably benign	Het
Or56b2j	A	T	7: 104,353,067 (GRCm39)	I98F	probably damaging	Het
Or5ac21	T	A	16: 59,123,973 (GRCm39)	F152L	probably benign	Het
Or5b3	A	G	19: 13,388,092 (GRCm39)	D53G	probably benign	Het
Or5g24-ps1	T	A	2: 85,464,221 (GRCm39)	Y149*	probably null	Het
Or6f1	C	T	7: 85,970,437 (GRCm39)	C241Y	probably damaging	Het
Or9k2b	T	C	10: 130,016,086 (GRCm39)	Y221C	probably damaging	Het
Patj	T	A	4: 98,394,067 (GRCm39)		probably benign	Het
Pknox1	A	T	17: 31,809,624 (GRCm39)	Q76L	possibly damaging	Het
Plekhg1	C	A	10: 3,907,777 (GRCm39)	T953K		Het
Plekhn1	C	A	4: 156,316,682 (GRCm39)	R333L	probably damaging	Het
Plk5	T	A	10: 80,194,610 (GRCm39)	V111D	probably benign	Het
Polr1b	A	G	2: 128,954,597 (GRCm39)	I398M	possibly damaging	Het
Ranbp3	T	C	17: 57,009,826 (GRCm39)	V137A	probably benign	Het
Rc3h1	T	A	1: 160,757,744 (GRCm39)	F21I	probably damaging	Het
Rgs8	T	C	1: 153,547,537 (GRCm39)	S56P	probably damaging	Het
Rhpn1	G	A	15: 75,585,425 (GRCm39)	V593M	probably damaging	Het
Sdad1	A	G	5: 92,437,784 (GRCm39)	S589P	probably benign	Het
Skp1	A	G	11: 52,136,843 (GRCm39)	K163R	probably damaging	Het
Slf2	A	G	19: 44,962,063 (GRCm39)	Y1080C	probably damaging	Het
Tcf4	C	T	18: 69,654,572 (GRCm39)		probably benign	Het
Tmem144	C	T	3: 79,732,655 (GRCm39)	V208M	probably damaging	Het
Tomm34	A	T	2: 163,902,884 (GRCm39)	L142Q	probably benign	Het
Unc13b	T	A	4: 43,176,120 (GRCm39)	V2316D	unknown	Het
Yme1l1	T	A	2: 23,052,543 (GRCm39)	S66T	probably benign	Het
Zscan25	T	A	5: 145,224,157 (GRCm39)	V209E	possibly 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
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'- CTGAATTATTATGGCAGGCCTTGAA -3'
(R):5'- GCAATTTTCAAAACAGCAAAATCTAC -3'

Sequencing Primer
(F):5'- TGCCTCCCAAGTGCTAGGATTAAAG -3'
(R):5'- ACAGCAAAATCTACCTAATCAACAG -3'

Posted On

2021-03-08