Mutagenetix > Incidental Mutation

Incidental Mutation 'R6092:Spag4'

485968

Institutional Source

Beutler Lab

Gene Symbol

Spag4

Ensembl Gene

ENSMUSG00000038180

Gene Name

sperm associated antigen 4

Synonyms

Sun4, 1700041K21Rik

MMRRC Submission

044249-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6092 (G1)

Quality Score

89.0077

Status

Not validated

Chromosome

Chromosomal Location

155907108-155911421 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 155907696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038860] [ENSMUST00000137966] [ENSMUST00000138178]

AlphaFold

Q9JJF2

Predicted Effect

probably benign
Transcript: ENSMUST00000038860

SMART Domains

Protein: ENSMUSP00000036484
Gene: ENSMUSG00000038180

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	19	37	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	166	188	N/A	INTRINSIC
low complexity region	214	222	N/A	INTRINSIC
Pfam:Sad1_UNC	293	426	1.9e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125996

Predicted Effect

probably benign
Transcript: ENSMUST00000131144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136765

Predicted Effect

probably benign
Transcript: ENSMUST00000137966

SMART Domains

Protein: ENSMUSP00000118715
Gene: ENSMUSG00000038180

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
transmembrane domain	72	94	N/A	INTRINSIC
coiled coil region	112	147	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149139

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show disrupted spermiogenesis, severe defects in sperm head formation, abnormal manchette morphology, globozoospermia, and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,701 (GRCm39)	P1297S	probably benign	Het
4930486L24Rik	C	T	13: 61,001,461 (GRCm39)	V89M	probably benign	Het
Abhd16a	T	C	17: 35,317,786 (GRCm39)		probably null	Het
Abtb1	A	C	6: 88,815,433 (GRCm39)	C264G	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arid1a	C	T	4: 133,421,163 (GRCm39)	G881R	unknown	Het
Asb8	A	G	15: 98,034,123 (GRCm39)	V144A	possibly damaging	Het
Atm	A	C	9: 53,435,714 (GRCm39)	C199G	probably damaging	Het
Atxn1	C	A	13: 45,720,288 (GRCm39)	V536L	probably benign	Het
Baz1a	C	T	12: 54,955,868 (GRCm39)	V1074M	possibly damaging	Het
BC034090	T	A	1: 155,100,659 (GRCm39)	D535V	probably damaging	Het
Casp8ap2	C	A	4: 32,639,380 (GRCm39)	H145N	probably damaging	Het
Ccdc24	T	A	4: 117,729,645 (GRCm39)	K25*	probably null	Het
Ccdc91	A	G	6: 147,437,114 (GRCm39)	N100S	possibly damaging	Het
Cdh20	A	T	1: 110,026,036 (GRCm39)	Y424F	probably benign	Het
Clasp1	T	C	1: 118,438,028 (GRCm39)	S612P	probably damaging	Het
Cxcl14	T	C	13: 56,443,646 (GRCm39)	M55V	possibly damaging	Het
Dnah11	T	C	12: 117,892,191 (GRCm39)	T3661A	probably benign	Het
Dnah14	T	A	1: 181,449,398 (GRCm39)	D574E	probably benign	Het
Dnah6	C	T	6: 73,091,680 (GRCm39)	V2204M	possibly damaging	Het
Ercc4	A	T	16: 12,943,125 (GRCm39)	H178L	probably benign	Het
Far2	T	C	6: 148,076,581 (GRCm39)	F475L	probably benign	Het
Ggt7	A	G	2: 155,359,959 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,718,364 (GRCm39)	T81S	possibly damaging	Het
Gprc6a	A	G	10: 51,491,173 (GRCm39)	S788P	probably damaging	Het
Hmgxb3	C	A	18: 61,270,672 (GRCm39)	G884V	possibly damaging	Het
Homer1	T	A	13: 93,502,945 (GRCm39)		probably benign	Het
Iars1	T	C	13: 49,861,897 (GRCm39)	S483P	probably damaging	Het
Kansl1l	C	G	1: 66,812,643 (GRCm39)	E457Q	probably damaging	Het
Krtap4-9	G	A	11: 99,676,481 (GRCm39)		probably benign	Het
Lepr	C	A	4: 101,649,220 (GRCm39)	P874T	probably damaging	Het
Mad2l2	T	A	4: 148,228,067 (GRCm39)	F100L	probably damaging	Het
Mavs	A	T	2: 131,087,518 (GRCm39)	R339*	probably null	Het
Mettl1	G	A	10: 126,877,843 (GRCm39)		probably benign	Het
Mfsd8	A	G	3: 40,774,031 (GRCm39)	V493A	possibly damaging	Het
Mtmr9	C	T	14: 63,779,901 (GRCm39)	V63M	possibly damaging	Het
Mto1	T	C	9: 78,368,131 (GRCm39)	I425T	possibly damaging	Het
Or2av9	A	T	11: 58,380,900 (GRCm39)	M227K	probably damaging	Het
Or5g29	A	G	2: 85,420,950 (GRCm39)	Y22C	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pclo	C	T	5: 14,727,937 (GRCm39)		probably benign	Het
Phf2	T	C	13: 48,969,533 (GRCm39)	D608G	unknown	Het
Plch2	T	C	4: 155,068,829 (GRCm39)	T1266A	probably benign	Het
Prdm12	A	G	2: 31,533,889 (GRCm39)	N169D	probably damaging	Het
Rimbp3	A	G	16: 17,030,134 (GRCm39)	Y1186C	probably damaging	Het
Serpinb3d	T	C	1: 107,006,989 (GRCm39)	M240V	probably damaging	Het
Slc25a38	C	T	9: 119,945,658 (GRCm39)	R74C	probably damaging	Het
Slc25a39	A	T	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc26a8	T	C	17: 28,867,129 (GRCm39)	N564S	probably damaging	Het
Stx1b	A	G	7: 127,407,035 (GRCm39)	M74T	possibly damaging	Het
Tbc1d1	A	G	5: 64,507,242 (GRCm39)	D1153G	probably benign	Het
Tert	T	C	13: 73,776,700 (GRCm39)	F484L	probably benign	Het
Tet1	A	G	10: 62,649,494 (GRCm39)	V72A	probably benign	Het
Tnfrsf13c	T	C	15: 82,107,355 (GRCm39)	T147A	probably damaging	Het
Trpa1	A	T	1: 14,959,710 (GRCm39)	Y659N	probably damaging	Het
Trpm2	A	G	10: 77,761,516 (GRCm39)	F1045L	probably benign	Het
Ttc13	T	C	8: 125,405,772 (GRCm39)	H529R	probably benign	Het
Ttn	T	C	2: 76,545,614 (GRCm39)	T32570A	probably damaging	Het
Uba7	A	G	9: 107,860,359 (GRCm39)	T892A	possibly damaging	Het
Uty	A	T	Y: 1,174,836 (GRCm39)	M195K	probably benign	Het
Zfp109	A	G	7: 23,928,978 (GRCm39)	S152P	possibly damaging	Het
Zfp532	T	C	18: 65,777,281 (GRCm39)	V846A	probably damaging	Het
Zfp658	A	T	7: 43,223,951 (GRCm39)	H742L	possibly damaging	Het
Zfp831	C	A	2: 174,547,299 (GRCm39)	P1494Q	probably damaging	Het

Other mutations in Spag4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01409:Spag4	APN	2	155,911,252 (GRCm39)	missense	possibly damaging	0.88
IGL01843:Spag4	APN	2	155,910,417 (GRCm39)	missense	probably benign	0.04
IGL02200:Spag4	APN	2	155,908,517 (GRCm39)	missense	probably benign	0.14
IGL02506:Spag4	APN	2	155,911,142 (GRCm39)	missense	probably damaging	1.00
IGL02570:Spag4	APN	2	155,910,364 (GRCm39)	missense	possibly damaging	0.60
IGL03302:Spag4	APN	2	155,910,340 (GRCm39)	missense	probably damaging	0.97
R0127:Spag4	UTSW	2	155,909,962 (GRCm39)	missense	probably damaging	0.99
R0314:Spag4	UTSW	2	155,909,229 (GRCm39)	unclassified	probably benign
R0441:Spag4	UTSW	2	155,909,899 (GRCm39)	missense	probably damaging	1.00
R1699:Spag4	UTSW	2	155,907,342 (GRCm39)	missense	probably damaging	1.00
R5270:Spag4	UTSW	2	155,907,853 (GRCm39)	intron	probably benign
R5293:Spag4	UTSW	2	155,908,111 (GRCm39)	missense	probably benign	0.07
R7138:Spag4	UTSW	2	155,908,519 (GRCm39)	missense	probably benign	0.00
R7300:Spag4	UTSW	2	155,907,541 (GRCm39)	missense	probably benign	0.06
R7898:Spag4	UTSW	2	155,911,244 (GRCm39)	missense	probably damaging	1.00
R8756:Spag4	UTSW	2	155,908,493 (GRCm39)	missense	possibly damaging	0.94
R9025:Spag4	UTSW	2	155,910,424 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-08-16