Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03302:Spag4'

416264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spag4

Ensembl Gene

ENSMUSG00000038180

Gene Name

sperm associated antigen 4

Synonyms

Sun4, 1700041K21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03302

Quality Score

Status

Chromosome

Chromosomal Location

155907108-155911421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155910340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 322 (Q322R)

Ref Sequence

ENSEMBL: ENSMUSP00000036484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038860] [ENSMUST00000079312] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000138178] [ENSMUST00000132494] [ENSMUST00000184265] [ENSMUST00000137966]

AlphaFold

Q9JJF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000038860
AA Change: Q322R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036484
Gene: ENSMUSG00000038180
AA Change: Q322R

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

probably benign
Transcript: ENSMUST00000079312

SMART Domains

Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
VWA	282	468	8.96e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109607

SMART Domains

Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
VWA	282	484	9.5e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109608

SMART Domains

Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
VWA	282	484	9.5e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126513

Predicted Effect

probably benign
Transcript: ENSMUST00000127956

SMART Domains

Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
low complexity region	10	28	N/A	INTRINSIC
low complexity region	73	172	N/A	INTRINSIC
RRM	217	287	1.05e-1	SMART
RRM	343	415	2.73e-7	SMART
RRM	457	529	8.73e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142975

Predicted Effect

probably benign
Transcript: ENSMUST00000138178

Predicted Effect

probably benign
Transcript: ENSMUST00000132494

SMART Domains

Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
Pfam:RRM_6	5	70	1.5e-5	PFAM
low complexity region	98	116	N/A	INTRINSIC
low complexity region	161	260	N/A	INTRINSIC
RRM	305	375	1.05e-1	SMART
RRM	431	503	2.73e-7	SMART
RRM	545	617	8.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140109

SMART Domains

Protein: ENSMUSP00000121998
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
Pfam:Copine	1	148	2.1e-50	PFAM
Pfam:vWA-TerF-like	5	111	2.5e-7	PFAM
low complexity region	167	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184265

SMART Domains

Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART

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: ENSMUST00000131144

Coding Region Coverage

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,858,576 (GRCm39)	Y542F	possibly damaging	Het
Ankrd34b	A	T	13: 92,576,151 (GRCm39)	N461I	possibly damaging	Het
Ccl24	T	C	5: 135,599,732 (GRCm39)	K93E	probably benign	Het
Ccr9	T	A	9: 123,608,601 (GRCm39)	D94E	probably damaging	Het
Cd79a	G	A	7: 24,598,759 (GRCm39)	V103M	probably damaging	Het
Ces1e	A	G	8: 93,950,521 (GRCm39)		probably null	Het
Cul9	T	C	17: 46,837,566 (GRCm39)	E993G	probably damaging	Het
Cyp4a14	T	C	4: 115,348,575 (GRCm39)	I330V	probably benign	Het
Cyp7a1	T	C	4: 6,273,801 (GRCm39)	D35G	probably benign	Het
Dmpk	C	A	7: 18,820,411 (GRCm39)		probably benign	Het
Gcnt1	G	T	19: 17,306,547 (GRCm39)	R393S	probably benign	Het
Lctl	C	T	9: 64,042,130 (GRCm39)		probably benign	Het
Mttp	A	T	3: 137,810,468 (GRCm39)	I664N	possibly damaging	Het
Myh1	C	T	11: 67,102,328 (GRCm39)	A873V	probably benign	Het
Nedd9	A	G	13: 41,492,330 (GRCm39)	V54A	probably damaging	Het
Or3a1b	T	G	11: 74,012,459 (GRCm39)	C115G	possibly damaging	Het
Or4f14	A	T	2: 111,743,167 (GRCm39)	V36E	possibly damaging	Het
Or6b1	G	T	6: 42,814,937 (GRCm39)	E41*	probably null	Het
Pak6	A	T	2: 118,523,784 (GRCm39)	E313V	probably benign	Het
Pla2g4a	A	G	1: 149,740,698 (GRCm39)	S402P	probably benign	Het
Polq	T	C	16: 36,892,134 (GRCm39)	M2012T	probably damaging	Het
Ppp1r12b	A	T	1: 134,765,788 (GRCm39)		probably benign	Het
Rbp3	A	G	14: 33,676,616 (GRCm39)	H188R	probably damaging	Het
Rps6ka2	C	A	17: 7,566,787 (GRCm39)	Q682K	possibly damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Spef2	T	C	15: 9,676,466 (GRCm39)	T702A	probably benign	Het
Spmap2l	T	G	5: 77,202,423 (GRCm39)	S281R	probably benign	Het
Taf3	G	T	2: 9,956,942 (GRCm39)	F408L	probably damaging	Het
Tead2	T	G	7: 44,882,323 (GRCm39)	Y121D	possibly damaging	Het
Tmco5	A	T	2: 116,722,760 (GRCm39)	T294S	probably damaging	Het
Trim37	A	G	11: 87,037,827 (GRCm39)	E187G	possibly damaging	Het
Ubb	T	A	11: 62,443,243 (GRCm39)	L91Q	probably damaging	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Zan	T	C	5: 137,466,652 (GRCm39)	S402G	possibly damaging	Het
Zc3h7a	T	A	16: 10,959,574 (GRCm39)	H793L	probably damaging	Het
Zfhx4	C	T	3: 5,468,773 (GRCm39)	T2977I	possibly 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
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
R6092:Spag4	UTSW	2	155,907,696 (GRCm39)	intron	probably benign
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

Posted On

2016-08-02