Mutagenetix > Incidental Mutation

Incidental Mutation 'R6927:Fhl5'

541148

Institutional Source

Beutler Lab

Gene Symbol

Fhl5

Ensembl Gene

ENSMUSG00000028259

Gene Name

four and a half LIM domains 5

Synonyms

1700027G07Rik, ACT

MMRRC Submission

045044-MU

Accession Numbers

Essential gene?

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

Stock #

R6927 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25199907-25242852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25213681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 85 (D85G)

Ref Sequence

ENSEMBL: ENSMUSP00000103839 (fasta)

Gene Model

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

AlphaFold

Q9WTX7

Predicted Effect

probably benign
Transcript: ENSMUST00000029922
AA Change: D85G

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029922
Gene: ENSMUSG00000028259
AA Change: D85G

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 benign
Transcript: ENSMUST00000108204
AA Change: D85G

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103839
Gene: ENSMUSG00000028259
AA Change: D85G

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: 99.0%
20x: 96.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,635,317 (GRCm39)	W229R	probably damaging	Het
Adck2	T	C	6: 39,560,998 (GRCm39)		probably null	Het
Ahi1	A	T	10: 20,930,968 (GRCm39)	N936I	probably damaging	Het
Ass1	T	C	2: 31,404,813 (GRCm39)	S365P	probably damaging	Het
Atp9b	T	C	18: 80,935,072 (GRCm39)	K208E	possibly damaging	Het
Bag6	G	A	17: 35,364,898 (GRCm39)		probably null	Het
Bptf	A	T	11: 106,945,421 (GRCm39)	V2491E	probably damaging	Het
Cd300ld2	T	A	11: 114,904,619 (GRCm39)	R83W	probably damaging	Het
Chrnd	T	C	1: 87,126,434 (GRCm39)	F396L	probably damaging	Het
Cyp3a13	G	A	5: 137,893,546 (GRCm39)	P439S	probably damaging	Het
Dnhd1	C	A	7: 105,364,770 (GRCm39)	H4279N	probably damaging	Het
Fam118a	T	C	15: 84,929,038 (GRCm39)		probably null	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fasn	T	A	11: 120,699,115 (GRCm39)	D2386V	probably benign	Het
Fat1	G	A	8: 45,477,532 (GRCm39)	V2170I	probably benign	Het
Fdps	T	C	3: 89,000,958 (GRCm39)	R374G	probably benign	Het
Flvcr1	T	C	1: 190,757,861 (GRCm39)	M144V	possibly damaging	Het
Gask1b	T	C	3: 79,848,769 (GRCm39)	I505T	probably damaging	Het
Gpr31b	A	G	17: 13,270,765 (GRCm39)	S135P	probably damaging	Het
Hey2	A	T	10: 30,710,413 (GRCm39)	D113E	probably benign	Het
Hoxc5	T	A	15: 102,923,807 (GRCm39)	I201N	probably damaging	Het
Ighv1-50	A	T	12: 115,083,794 (GRCm39)	W3R	probably damaging	Het
Impa1	A	G	3: 10,380,348 (GRCm39)	I208T	probably benign	Het
Iqcj	T	C	3: 67,954,624 (GRCm39)	L43P	possibly damaging	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Kdm4b	T	C	17: 56,706,435 (GRCm39)	C850R	probably damaging	Het
Krt25	A	T	11: 99,208,205 (GRCm39)	I341N	probably damaging	Het
L3mbtl3	T	A	10: 26,168,567 (GRCm39)	R621*	probably null	Het
Lipm	T	C	19: 34,078,563 (GRCm39)		probably benign	Het
Macrod2	A	T	2: 142,098,441 (GRCm39)	D286V	probably damaging	Het
Mad2l2	T	A	4: 148,225,411 (GRCm39)	V27E	possibly damaging	Het
Map4k4	T	A	1: 40,050,842 (GRCm39)	H768Q	probably benign	Het
Mgat4d	A	G	8: 84,081,496 (GRCm39)	N83S	probably benign	Het
Nucb1	C	T	7: 45,148,282 (GRCm39)	R141H	possibly damaging	Het
Or2t46	A	G	11: 58,472,491 (GRCm39)	K274E	possibly damaging	Het
Pcdhga2	A	C	18: 37,803,719 (GRCm39)	D521A	probably damaging	Het
Pcnx1	T	C	12: 81,964,586 (GRCm39)	V251A	probably benign	Het
Pdf	A	T	8: 107,774,833 (GRCm39)	M133K	probably damaging	Het
Piezo2	A	G	18: 63,166,057 (GRCm39)	F2058S	probably damaging	Het
Plekhb2	T	A	1: 34,915,982 (GRCm39)		probably null	Het
Ppp2r3d	G	C	9: 101,052,547 (GRCm39)	H221D	probably damaging	Het
Prl2c5	A	T	13: 13,357,503 (GRCm39)		probably null	Het
Puf60	T	A	15: 75,947,663 (GRCm39)	M49L	probably benign	Het
Rdh16f1	T	C	10: 127,624,561 (GRCm39)	V133A	probably benign	Het
Robo2	T	A	16: 73,778,946 (GRCm39)	D389V	probably damaging	Het
Slc22a23	G	T	13: 34,528,362 (GRCm39)	A140D	probably benign	Het
Slc25a42	A	G	8: 70,641,573 (GRCm39)	L136P	probably damaging	Het
Slc36a3	T	A	11: 55,020,519 (GRCm39)	M284L	probably damaging	Het
Tas2r115	T	A	6: 132,714,895 (GRCm39)	I19F	probably damaging	Het
Tmc2	A	G	2: 130,103,300 (GRCm39)	H812R	probably benign	Het
Vmn2r26	A	G	6: 124,016,057 (GRCm39)	S174G	possibly damaging	Het
Vstm4	T	A	14: 32,585,959 (GRCm39)		probably null	Het
Vwc2	C	A	11: 11,104,250 (GRCm39)	P261T	probably damaging	Het
Zfhx3	C	G	8: 109,683,453 (GRCm39)	H3631D	unknown	Het
Zfp335	A	G	2: 164,735,640 (GRCm39)	C1105R	probably damaging	Het
Zfp488	A	G	14: 33,692,755 (GRCm39)	L136P	probably benign	Het
Zzef1	G	A	11: 72,803,983 (GRCm39)	R2575H	probably 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
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
R9609:Fhl5	UTSW	4	25,214,653 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAAAGCAAGAACAGCACTTCTTTTC -3'
(R):5'- ACAGTTTCAGCAACTCTCCC -3'

Sequencing Primer
(F):5'- GAACAGCACTTCTTTTCTTAGAGCAG -3'
(R):5'- TGGCACTAGGTTCCCAAGAATGTC -3'

Posted On

2018-11-28