Mutagenetix > Incidental Mutation

Incidental Mutation 'R1781:Fhdc1'

195264

Institutional Source

Beutler Lab

Gene Symbol

Fhdc1

Ensembl Gene

ENSMUSG00000041842

Gene Name

FH2 domain containing 1

Synonyms

6330505N24Rik

MMRRC Submission

039812-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

R1781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84349505-84387736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84356111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 444 (D444E)

Ref Sequence

ENSEMBL: ENSMUSP00000103317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091002] [ENSMUST00000107689] [ENSMUST00000194027]

AlphaFold

Q3ULZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000091002
AA Change: D444E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: D444E

Domain	Start	End	E-Value	Type
low complexity region	30	48	N/A	INTRINSIC
low complexity region	55	82	N/A	INTRINSIC
FH2	88	538	5.13e-57	SMART
Blast:FH2	539	571	6e-6	BLAST
low complexity region	789	822	N/A	INTRINSIC
low complexity region	962	976	N/A	INTRINSIC
low complexity region	1009	1026	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107689
AA Change: D444E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: D444E

Domain	Start	End	E-Value	Type
low complexity region	30	48	N/A	INTRINSIC
low complexity region	55	82	N/A	INTRINSIC
FH2	88	538	5.13e-57	SMART
Blast:FH2	539	571	6e-6	BLAST
low complexity region	789	822	N/A	INTRINSIC
low complexity region	962	976	N/A	INTRINSIC
low complexity region	1009	1026	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125643

Predicted Effect

probably benign
Transcript: ENSMUST00000194027

SMART Domains

Protein: ENSMUSP00000142030
Gene: ENSMUSG00000041842

Domain	Start	End	E-Value	Type
Pfam:FH2	1	145	3.8e-22	PFAM

Meta Mutation Damage Score

0.3155

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

97% (88/91)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,932,117 (GRCm39)	K211E	probably damaging	Het
Abca13	T	A	11: 9,219,194 (GRCm39)	L376Q	probably damaging	Het
Abca17	T	C	17: 24,486,531 (GRCm39)	T1499A	possibly damaging	Het
Anks6	A	C	4: 47,043,639 (GRCm39)	N363K	possibly damaging	Het
Apob	T	A	12: 8,059,603 (GRCm39)	I2695N	possibly damaging	Het
Arhgef18	C	T	8: 3,430,495 (GRCm39)	R123W	probably damaging	Het
Atg14	T	A	14: 47,786,607 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,306,243 (GRCm39)	I1368F	probably damaging	Het
Btbd9	A	G	17: 30,732,567 (GRCm39)	S373P	probably damaging	Het
Ccdc83	T	C	7: 89,899,749 (GRCm39)	E41G	probably damaging	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdh8	T	C	8: 99,917,094 (GRCm39)		probably null	Het
Cdh8	A	T	8: 100,006,290 (GRCm39)	I99N	probably damaging	Het
Cdr2	G	A	7: 120,557,268 (GRCm39)	P419L	probably benign	Het
Cds1	T	A	5: 101,960,416 (GRCm39)	I289K	possibly damaging	Het
Cherp	G	A	8: 73,221,615 (GRCm39)	T394I	probably damaging	Het
Cyp4f17	T	G	17: 32,742,993 (GRCm39)	I222S	possibly damaging	Het
Dcc	A	G	18: 71,511,788 (GRCm39)	S856P	probably benign	Het
Dcp1a	C	T	14: 30,235,032 (GRCm39)	T221I	probably benign	Het
Ddx10	A	G	9: 53,118,845 (GRCm39)	S475P	probably damaging	Het
Dennd5b	G	T	6: 148,928,896 (GRCm39)	A759E	probably damaging	Het
Disp2	G	A	2: 118,623,042 (GRCm39)	G1258D	probably damaging	Het
Fhod1	T	C	8: 106,074,421 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,800 (GRCm39)	K8R	probably benign	Het
Gk5	C	T	9: 96,015,508 (GRCm39)	T108I	possibly damaging	Het
Gm8214	C	A	1: 183,414,129 (GRCm39)		noncoding transcript	Het
Gnl1	A	T	17: 36,298,638 (GRCm39)	I434F	probably damaging	Het
Golga2	T	C	2: 32,196,588 (GRCm39)	Y986H	probably damaging	Het
Gpr21	T	C	2: 37,407,550 (GRCm39)	V32A	probably benign	Het
Grb14	A	T	2: 64,805,899 (GRCm39)		probably null	Het
H6pd	A	T	4: 150,080,388 (GRCm39)	F144L	probably damaging	Het
Hunk	A	G	16: 90,229,448 (GRCm39)	Y27C	probably damaging	Het
Ints7	C	T	1: 191,328,396 (GRCm39)	T223M	possibly damaging	Het
Kcnmb2	T	C	3: 32,233,152 (GRCm39)		probably null	Het
Lilra6	A	T	7: 3,918,066 (GRCm39)	L26H	probably benign	Het
Mc4r	A	T	18: 66,992,918 (GRCm39)	V65E	probably damaging	Het
Mgam	G	A	6: 40,646,797 (GRCm39)	G708R	probably damaging	Het
Mllt6	A	G	11: 97,563,395 (GRCm39)	D326G	probably benign	Het
Myo7a	A	T	7: 97,722,331 (GRCm39)	V1198D	probably damaging	Het
Nampt	T	C	12: 32,883,037 (GRCm39)	V74A	probably damaging	Het
Nlrp4b	G	C	7: 10,449,266 (GRCm39)	V123L	probably benign	Het
Ntpcr	T	A	8: 126,472,141 (GRCm39)	L150Q	probably damaging	Het
Obscn	C	T	11: 58,997,163 (GRCm39)	E1513K	probably damaging	Het
Ola1	T	C	2: 72,987,099 (GRCm39)	K178E	possibly damaging	Het
Opalin	T	C	19: 41,056,070 (GRCm39)		probably null	Het
Or10g6	A	G	9: 39,934,541 (GRCm39)	N284S	probably damaging	Het
Or13a20	A	T	7: 140,232,419 (GRCm39)	I176F	probably damaging	Het
Or2ad1	C	T	13: 21,326,934 (GRCm39)	V98I	probably benign	Het
Or2w2	C	T	13: 21,757,711 (GRCm39)	G305D	probably damaging	Het
Or3a10	A	T	11: 73,935,786 (GRCm39)	F105I	probably damaging	Het
Or51ah3	C	T	7: 103,209,773 (GRCm39)	P30S	probably benign	Het
Or52ae9	T	C	7: 103,390,028 (GRCm39)	M140V	probably benign	Het
Or52e15	A	T	7: 104,645,315 (GRCm39)	F265L	possibly damaging	Het
Or5p62	A	G	7: 107,771,090 (GRCm39)	V287A	probably benign	Het
Or7a35	T	C	10: 78,853,159 (GRCm39)	M1T	probably null	Het
P2ry12	A	G	3: 59,125,199 (GRCm39)	F159L	probably benign	Het
Paqr7	T	C	4: 134,234,592 (GRCm39)		probably null	Het
Parp1	T	C	1: 180,415,578 (GRCm39)	S466P	probably benign	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,322,977 (GRCm39)	D952G	probably damaging	Het
Pde6c	T	C	19: 38,140,146 (GRCm39)	S336P	possibly damaging	Het
Pgk2	T	C	17: 40,519,398 (GRCm39)	D10G	probably benign	Het
Phf20l1	A	G	15: 66,504,674 (GRCm39)	T771A	probably damaging	Het
Pkdrej	A	G	15: 85,705,372 (GRCm39)	V188A	possibly damaging	Het
Plekhm1	A	G	11: 103,285,682 (GRCm39)	L251P	probably damaging	Het
Prex2	A	T	1: 11,270,179 (GRCm39)	N1288I	probably benign	Het
Sarnp	T	C	10: 128,669,191 (GRCm39)	L16P	probably damaging	Het
Scgb3a2	T	C	18: 43,900,033 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,584,148 (GRCm39)	I1489N	probably damaging	Het
Scn3a	A	T	2: 65,302,729 (GRCm39)	L1239Q	probably damaging	Het
Shisa9	T	C	16: 12,085,521 (GRCm39)	S377P	probably benign	Het
Slc22a30	T	A	19: 8,313,136 (GRCm39)	T550S	probably damaging	Het
Slc25a11	T	C	11: 70,535,651 (GRCm39)	T296A	probably benign	Het
Slc35f1	T	A	10: 52,938,532 (GRCm39)		probably null	Het
Slc6a13	A	G	6: 121,311,811 (GRCm39)	E396G	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Srsf9	C	A	5: 115,465,481 (GRCm39)	Y9*	probably null	Het
Tasor2	T	C	13: 3,634,759 (GRCm39)	T683A	possibly damaging	Het
Tbx20	T	C	9: 24,636,795 (GRCm39)	I431V	probably benign	Het
Tespa1	G	A	10: 130,184,119 (GRCm39)	G67S	probably benign	Het
Trhde	A	T	10: 114,424,405 (GRCm39)	V460E	possibly damaging	Het
Trip12	A	T	1: 84,708,342 (GRCm39)	F1739I	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	G	A	17: 31,187,524 (GRCm39)	R196H	probably damaging	Het
Vezf1	G	T	11: 87,972,447 (GRCm39)	M269I	probably benign	Het
Vmn1r35	A	T	6: 66,656,550 (GRCm39)	M40K	probably benign	Het
Vmn1r9	G	T	6: 57,048,300 (GRCm39)	C125F	probably benign	Het
Vmn2r12	C	A	5: 109,239,594 (GRCm39)	G323V	probably benign	Het
Vmn2r79	A	T	7: 86,651,555 (GRCm39)	H318L	probably benign	Het
Zfhx3	T	A	8: 109,520,167 (GRCm39)	S430T	probably benign	Het

Other mutations in Fhdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Fhdc1	APN	3	84,356,107 (GRCm39)	missense	probably damaging	1.00
IGL00556:Fhdc1	APN	3	84,364,549 (GRCm39)	missense	possibly damaging	0.81
IGL00951:Fhdc1	APN	3	84,371,620 (GRCm39)	missense	possibly damaging	0.90
IGL01744:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01754:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01762:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01764:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01769:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01778:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01779:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01781:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02243:Fhdc1	APN	3	84,381,947 (GRCm39)	start codon destroyed	possibly damaging	0.89
IGL02260:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02261:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02266:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02271:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02284:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02292:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02296:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02301:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02347:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02416:Fhdc1	APN	3	84,352,535 (GRCm39)	missense	probably benign	0.03
IGL03189:Fhdc1	APN	3	84,362,368 (GRCm39)	intron	probably benign
IGL03392:Fhdc1	APN	3	84,351,826 (GRCm39)	missense	possibly damaging	0.55
R0125:Fhdc1	UTSW	3	84,352,852 (GRCm39)	missense	probably benign
R0135:Fhdc1	UTSW	3	84,352,925 (GRCm39)	missense	probably damaging	0.97
R0255:Fhdc1	UTSW	3	84,360,817 (GRCm39)	intron	probably benign
R0401:Fhdc1	UTSW	3	84,351,931 (GRCm39)	missense	probably benign	0.02
R1371:Fhdc1	UTSW	3	84,352,310 (GRCm39)	missense	probably damaging	1.00
R1727:Fhdc1	UTSW	3	84,353,483 (GRCm39)	missense	possibly damaging	0.50
R1769:Fhdc1	UTSW	3	84,356,085 (GRCm39)	missense	probably damaging	1.00
R1840:Fhdc1	UTSW	3	84,353,128 (GRCm39)	missense	possibly damaging	0.46
R1970:Fhdc1	UTSW	3	84,362,158 (GRCm39)	missense	probably damaging	1.00
R2038:Fhdc1	UTSW	3	84,351,868 (GRCm39)	missense	probably benign	0.22
R2088:Fhdc1	UTSW	3	84,382,033 (GRCm39)	start gained	probably benign
R2256:Fhdc1	UTSW	3	84,353,353 (GRCm39)	missense	probably benign
R2939:Fhdc1	UTSW	3	84,364,577 (GRCm39)	missense	possibly damaging	0.47
R3813:Fhdc1	UTSW	3	84,371,577 (GRCm39)	critical splice donor site	probably null
R4022:Fhdc1	UTSW	3	84,352,409 (GRCm39)	missense	probably benign	0.01
R4175:Fhdc1	UTSW	3	84,364,294 (GRCm39)	intron	probably benign
R4243:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4245:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4290:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4291:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4292:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4293:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4294:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4295:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4334:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4335:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4342:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4344:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4354:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4550:Fhdc1	UTSW	3	84,352,483 (GRCm39)	missense	probably benign	0.16
R4626:Fhdc1	UTSW	3	84,381,557 (GRCm39)	missense	probably damaging	1.00
R4925:Fhdc1	UTSW	3	84,360,840 (GRCm39)	missense	probably damaging	1.00
R5155:Fhdc1	UTSW	3	84,353,457 (GRCm39)	missense	probably benign	0.00
R5588:Fhdc1	UTSW	3	84,372,783 (GRCm39)	missense	possibly damaging	0.91
R6043:Fhdc1	UTSW	3	84,356,193 (GRCm39)	missense	probably damaging	0.96
R6063:Fhdc1	UTSW	3	84,353,336 (GRCm39)	missense	probably benign	0.00
R6652:Fhdc1	UTSW	3	84,371,631 (GRCm39)	missense	probably damaging	1.00
R6706:Fhdc1	UTSW	3	84,353,729 (GRCm39)	missense	probably damaging	1.00
R6783:Fhdc1	UTSW	3	84,352,834 (GRCm39)	missense	probably benign	0.00
R6984:Fhdc1	UTSW	3	84,351,823 (GRCm39)	missense	possibly damaging	0.93
R7182:Fhdc1	UTSW	3	84,356,157 (GRCm39)	missense	probably damaging	0.98
R7299:Fhdc1	UTSW	3	84,351,847 (GRCm39)	missense	probably damaging	1.00
R7574:Fhdc1	UTSW	3	84,353,438 (GRCm39)	missense	probably benign
R7765:Fhdc1	UTSW	3	84,351,906 (GRCm39)	missense	probably benign	0.04
R8013:Fhdc1	UTSW	3	84,381,946 (GRCm39)	start codon destroyed	probably null	0.99
R8014:Fhdc1	UTSW	3	84,381,946 (GRCm39)	start codon destroyed	probably null	0.99
R8139:Fhdc1	UTSW	3	84,358,790 (GRCm39)	missense	probably damaging	1.00
R8264:Fhdc1	UTSW	3	84,362,339 (GRCm39)	missense	probably damaging	1.00
R8384:Fhdc1	UTSW	3	84,362,306 (GRCm39)	missense	possibly damaging	0.91
R8901:Fhdc1	UTSW	3	84,352,874 (GRCm39)	missense	probably benign
R9091:Fhdc1	UTSW	3	84,352,290 (GRCm39)	missense	unknown
R9270:Fhdc1	UTSW	3	84,352,290 (GRCm39)	missense	unknown
R9361:Fhdc1	UTSW	3	84,356,140 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGAGAGGAGAGGCTGTAGTGTTC -3'
(R):5'- AGCTGACCTTGCTTACCACACG -3'

Sequencing Primer
(F):5'- CCCATTACCATAAGCAGTGTTGG -3'
(R):5'- GCGTCCCTGTTTGTTTCC -3'

Posted On

2014-05-23