Mutagenetix > Incidental Mutation

Incidental Mutation 'R7300:Spag4'

566913

Institutional Source

Beutler Lab

Gene Symbol

Spag4

Ensembl Gene

ENSMUSG00000038180

Gene Name

sperm associated antigen 4

Synonyms

Sun4, 1700041K21Rik

MMRRC Submission

045404-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155907108-155911421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155907541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 87 (H87L)

Ref Sequence

ENSEMBL: ENSMUSP00000036484 (fasta)

Gene Model

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

AlphaFold

Q9JJF2

Predicted Effect

probably benign
Transcript: ENSMUST00000038860
AA Change: H87L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036484
Gene: ENSMUSG00000038180
AA Change: H87L

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: 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

possibly damaging
Transcript: ENSMUST00000138178
AA Change: H62L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1459

Coding Region Coverage

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

Validation Efficiency

94% (45/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Adgrd1	T	C	5: 129,174,411 (GRCm39)		probably null	Het
Atr	T	C	9: 95,747,423 (GRCm39)	I235T	probably benign	Het
Bpifb5	A	G	2: 154,070,066 (GRCm39)	E172G	possibly damaging	Het
Btbd2	A	T	10: 80,480,100 (GRCm39)	I420N	probably damaging	Het
Ccdc141	G	A	2: 76,845,038 (GRCm39)	T1343I	probably benign	Het
Cd59b	A	T	2: 103,914,795 (GRCm39)	K64N	possibly damaging	Het
Cd63	A	G	10: 128,748,034 (GRCm39)	N144S	probably benign	Het
Cip2a	A	G	16: 48,834,217 (GRCm39)	K631E	probably damaging	Het
Col4a4	C	T	1: 82,464,361 (GRCm39)	R989Q	unknown	Het
Cyp4a31	A	G	4: 115,427,468 (GRCm39)	T225A	probably benign	Het
Dnah1	T	G	14: 30,991,798 (GRCm39)	E3068A	probably benign	Het
Fpgt	C	T	3: 154,792,612 (GRCm39)	V472I	probably damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Homer3	T	C	8: 70,737,953 (GRCm39)	M1T	probably null	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Il17ra	A	G	6: 120,459,063 (GRCm39)	D738G	probably benign	Het
Il2ra	A	G	2: 11,681,721 (GRCm39)	T109A	not run	Het
Itgb6	T	C	2: 60,435,650 (GRCm39)	D700G	probably benign	Het
Krt31	T	C	11: 99,938,612 (GRCm39)	E327G	probably damaging	Het
Large1	A	C	8: 73,564,224 (GRCm39)	L514R	probably damaging	Het
Map3k8	C	T	18: 4,349,076 (GRCm39)	V81M	probably damaging	Het
Mstn	T	C	1: 53,103,239 (GRCm39)	S192P	probably benign	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or13a27	A	T	7: 139,925,268 (GRCm39)	N211K	probably damaging	Het
Or2n1c	A	C	17: 38,519,588 (GRCm39)	T151P	possibly damaging	Het
Or2y1c	C	T	11: 49,361,473 (GRCm39)	T165I	probably benign	Het
Or52i2	A	G	7: 102,319,417 (GRCm39)	S97G	probably benign	Het
Or7g17	T	C	9: 18,768,530 (GRCm39)	I194T	not run	Het
Or8k25	T	C	2: 86,244,330 (GRCm39)	E22G	probably null	Het
Pde4a	T	C	9: 21,117,618 (GRCm39)	S627P	probably damaging	Het
Pdxdc1	A	G	16: 13,697,374 (GRCm39)	I102T	probably damaging	Het
Phldb2	A	G	16: 45,645,925 (GRCm39)	S174P	probably damaging	Het
Pla2g4e	C	T	2: 120,021,680 (GRCm39)	V143I	probably damaging	Het
Pou4f2	C	T	8: 79,162,735 (GRCm39)		probably null	Het
Ppl	C	T	16: 4,920,235 (GRCm39)	V387M	possibly damaging	Het
Pramel43	A	T	5: 94,760,655 (GRCm39)	D340E	probably benign	Het
Rarg	A	T	15: 102,160,852 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,758,936 (GRCm39)	Y3414C	probably damaging	Het
Serpinb8	T	A	1: 107,535,053 (GRCm39)	*375K	probably null	Het
Sim1	C	T	10: 50,785,614 (GRCm39)	H228Y	probably benign	Het
Ttc17	A	T	2: 94,205,479 (GRCm39)	L289Q	probably damaging	Het
Ubac2	T	C	14: 122,142,586 (GRCm39)	L28P	probably damaging	Het
Vmn2r31	C	A	7: 7,387,775 (GRCm39)	A599S	possibly damaging	Het
Vps13c	T	C	9: 67,847,826 (GRCm39)	V2196A	probably benign	Het
Zswim5	A	T	4: 116,833,102 (GRCm39)	I612F	probably damaging	Het
Zzef1	T	A	11: 72,765,830 (GRCm39)	H1452Q	probably benign	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
R6092:Spag4	UTSW	2	155,907,696 (GRCm39)	intron	probably benign
R7138:Spag4	UTSW	2	155,908,519 (GRCm39)	missense	probably benign	0.00
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

PCR Primer
(F):5'- AATAGTTCCCACAGCGCGAC -3'
(R):5'- GTCTCAATCAGTGGAAACCGC -3'

Sequencing Primer
(F):5'- CTTCGGGGGACAGCAATG -3'
(R):5'- CCAGGCACAGGATTTCCTC -3'

Posted On

2019-06-26