Mutagenetix > Incidental Mutation

Incidental Mutation 'R9609:Fhl5'

724081

Institutional Source

Beutler Lab

Gene Symbol

Fhl5

Ensembl Gene

ENSMUSG00000028259

Gene Name

four and a half LIM domains 5

Synonyms

1700027G07Rik, ACT

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9609 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25199907-25242852 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 25214653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 41 (C41*)

Ref Sequence

ENSEMBL: ENSMUSP00000029922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029922] [ENSMUST00000108204]

AlphaFold

Q9WTX7

Predicted Effect

probably null
Transcript: ENSMUST00000029922
AA Change: C41*

SMART Domains

Protein: ENSMUSP00000029922
Gene: ENSMUSG00000028259
AA Change: C41*

Domain	Start	End	E-Value	Type
LIM	40	93	1.91e-11	SMART
LIM	101	154	4.59e-14	SMART
LIM	162	213	3.7e-9	SMART
LIM	221	276	7.68e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108204
AA Change: C41*

SMART Domains

Protein: ENSMUSP00000103839
Gene: ENSMUSG00000028259
AA Change: C41*

Domain	Start	End	E-Value	Type
LIM	40	93	1.91e-11	SMART
LIM	101	154	4.59e-14	SMART
LIM	162	213	3.7e-9	SMART
LIM	221	276	7.68e-16	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Polymorphisms in this gene may be associated with susceptibility for migraine headaches. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Apr 2016]
PHENOTYPE: Male mice homozygous for disruptions of this gene have reduced sperm counts and abnormal sperm but are none the less fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,208,549 (GRCm39)	S241P	probably damaging	Het
Adam23	A	T	1: 63,576,102 (GRCm39)	M295L	probably benign	Het
Ano8	T	A	8: 71,933,726 (GRCm39)	D522V	unknown	Het
Asgr2	T	C	11: 69,988,667 (GRCm39)	L120P	probably damaging	Het
Atp5mc2	A	G	15: 102,573,580 (GRCm39)	F79L	probably damaging	Het
Baiap2	C	T	11: 119,847,958 (GRCm39)	R29C	probably damaging	Het
Bicdl2	A	G	17: 23,884,513 (GRCm39)	E145G		Het
Cad	T	C	5: 31,228,018 (GRCm39)		probably null	Het
Dhrs7b	A	G	11: 60,735,121 (GRCm39)	R51G	possibly damaging	Het
Dnah3	A	T	7: 119,670,236 (GRCm39)	Y694N	probably damaging	Het
Dnaja4	G	A	9: 54,616,644 (GRCm39)	G216S	probably null	Het
Dync1h1	T	C	12: 110,607,362 (GRCm39)	V2651A	probably benign	Het
Fbxw28	T	C	9: 109,167,515 (GRCm39)	T81A	probably benign	Het
Fga	A	T	3: 82,940,064 (GRCm39)	I573F	probably damaging	Het
Fgd6	T	A	10: 93,879,674 (GRCm39)	I176N	probably damaging	Het
Fibcd1	A	G	2: 31,728,653 (GRCm39)	V68A	probably benign	Het
Fign	T	C	2: 63,810,286 (GRCm39)	D328G	probably benign	Het
Gtpbp10	A	C	5: 5,607,396 (GRCm39)	F15C	probably damaging	Het
Hmcn1	A	T	1: 150,555,346 (GRCm39)	V2475D	probably damaging	Het
Iglv3	A	G	16: 19,060,221 (GRCm39)	S36P	probably damaging	Het
Igsf10	G	T	3: 59,226,869 (GRCm39)	T2268N	probably damaging	Het
Krt75	A	G	15: 101,474,677 (GRCm39)	I473T	probably benign	Het
Lcn3	A	G	2: 25,657,596 (GRCm39)	E162G	possibly damaging	Het
Lnpk	A	G	2: 74,401,298 (GRCm39)	V17A	probably damaging	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mlip	T	A	9: 77,045,797 (GRCm39)	L894F	possibly damaging	Het
Muc4	A	T	16: 32,577,234 (GRCm39)	T175S		Het
Nkpd1	A	C	7: 19,257,462 (GRCm39)	I414L	possibly damaging	Het
Nrxn2	C	A	19: 6,540,203 (GRCm39)	N834K	probably damaging	Het
Oacyl	A	G	18: 65,843,599 (GRCm39)	T99A	probably benign	Het
Patj	T	G	4: 98,576,473 (GRCm39)	F570L	probably benign	Het
Piwil4	T	C	9: 14,614,443 (GRCm39)	T107A		Het
Ppp1r12b	G	A	1: 134,824,084 (GRCm39)	Q180*	probably null	Het
Prpf4b	A	G	13: 35,068,032 (GRCm39)	D287G	unknown	Het
Rab17	T	C	1: 90,891,907 (GRCm39)	Y39C	probably damaging	Het
Rbsn	T	A	6: 92,179,565 (GRCm39)	I125F	probably damaging	Het
Rnf207	C	A	4: 152,402,222 (GRCm39)	G74C	probably damaging	Het
Rrs1	T	C	1: 9,616,518 (GRCm39)	L257P	probably benign	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Scn8a	A	C	15: 100,834,407 (GRCm39)	I68L	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc26a7	T	A	4: 14,532,636 (GRCm39)	I413F	probably damaging	Het
Slc4a11	T	A	2: 130,530,035 (GRCm39)	T248S	possibly damaging	Het
Spen	A	G	4: 141,215,419 (GRCm39)	I471T	unknown	Het
Tbpl2	C	T	2: 23,977,197 (GRCm39)	D274N	probably damaging	Het
Timm23	A	G	14: 31,902,543 (GRCm39)	M200T	probably benign	Het
Tlr3	T	C	8: 45,850,117 (GRCm39)	I851V	probably benign	Het
Tnfrsf18	T	A	4: 156,113,208 (GRCm39)	V298E	possibly damaging	Het
Trav6-3	A	G	14: 53,667,618 (GRCm39)	N41S	possibly damaging	Het
Trim17	C	A	11: 58,855,964 (GRCm39)	A7D	probably damaging	Het
Ttbk1	T	C	17: 46,758,148 (GRCm39)	T829A	probably damaging	Het
Ugt3a1	A	C	15: 9,361,905 (GRCm39)	E227A	probably damaging	Het
Vmn1r218	C	T	13: 23,320,839 (GRCm39)	T62I	probably benign	Het
Vmn2r100	T	C	17: 19,743,732 (GRCm39)	L465P	probably damaging	Het
Vps13c	A	T	9: 67,841,831 (GRCm39)	Q1951L	probably damaging	Het
Wdcp	A	G	12: 4,900,258 (GRCm39)	D38G	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zc3h4	T	A	7: 16,150,751 (GRCm39)	V23D	unknown	Het
Zkscan8	C	A	13: 21,709,434 (GRCm39)	V155F	possibly damaging	Het

Other mutations in Fhl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Fhl5	APN	4	25,207,181 (GRCm39)	missense	possibly damaging	0.95
IGL02194:Fhl5	APN	4	25,211,341 (GRCm39)	missense	probably benign	0.01
IGL03172:Fhl5	APN	4	25,211,309 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Fhl5	UTSW	4	25,211,194 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Fhl5	UTSW	4	25,211,194 (GRCm39)	missense	probably damaging	1.00
R0020:Fhl5	UTSW	4	25,200,054 (GRCm39)	missense	probably benign	0.15
R0020:Fhl5	UTSW	4	25,200,054 (GRCm39)	missense	probably benign	0.15
R0256:Fhl5	UTSW	4	25,213,624 (GRCm39)	missense	probably benign
R0304:Fhl5	UTSW	4	25,207,241 (GRCm39)	missense	probably benign	0.01
R0480:Fhl5	UTSW	4	25,207,101 (GRCm39)	nonsense	probably null
R0563:Fhl5	UTSW	4	25,213,610 (GRCm39)	missense	probably damaging	0.96
R3418:Fhl5	UTSW	4	25,211,252 (GRCm39)	missense	probably benign
R3926:Fhl5	UTSW	4	25,214,790 (GRCm39)	splice site	probably benign
R4382:Fhl5	UTSW	4	25,200,118 (GRCm39)	missense	probably benign	0.16
R5930:Fhl5	UTSW	4	25,214,756 (GRCm39)	missense	probably benign	0.04
R6135:Fhl5	UTSW	4	25,214,716 (GRCm39)	nonsense	probably null
R6927:Fhl5	UTSW	4	25,213,681 (GRCm39)	missense	probably benign	0.14
R7147:Fhl5	UTSW	4	25,213,777 (GRCm39)	critical splice acceptor site	probably null
R7975:Fhl5	UTSW	4	25,214,730 (GRCm39)	missense	probably benign
R8213:Fhl5	UTSW	4	25,207,113 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTTAGCTATTCCAGAAGTAACAAC -3'
(R):5'- CAAGCAGCTCCCTAAATTTGTG -3'

Sequencing Primer
(F):5'- TGCCACACACACAAGTTGTCTTAAG -3'
(R):5'- ACTTCATCCCTGATTGGG -3'

Posted On

2022-09-12