Mutagenetix > Incidental Mutation

Incidental Mutation 'R7358:Spag16'

571066

Institutional Source

Beutler Lab

Gene Symbol

Spag16

Ensembl Gene

ENSMUSG00000053153

Gene Name

sperm associated antigen 16

Synonyms

4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik

MMRRC Submission

045444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R7358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69866129-70764291 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69883526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 85 (H85R)

Ref Sequence

ENSEMBL: ENSMUSP00000069821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065425] [ENSMUST00000113940]

AlphaFold

Q8K450

Predicted Effect

probably benign
Transcript: ENSMUST00000065425
AA Change: H85R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: H85R

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC
coiled coil region	146	190	N/A	INTRINSIC
WD40	349	388	7.8e-2	SMART
WD40	391	430	6.23e-10	SMART
WD40	433	472	1.34e-9	SMART
WD40	475	514	1.92e-10	SMART
WD40	517	556	2.38e-6	SMART
WD40	559	598	1.42e2	SMART
WD40	600	639	4.83e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113940
AA Change: H85R

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: H85R

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC
coiled coil region	146	190	N/A	INTRINSIC
low complexity region	342	347	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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.] Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]
PHENOTYPE: Chimeric males carrying one copy of the mutated allele have impaired spermatogenesis, a significant loss of germ cells at the round spermatid stage, and disorganized sperm axoneme structure. No offspring carrying the mutated allele are produced from matings using male chimeras. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,510,529 (GRCm39)	Q983L	probably benign	Het
Agtr1a	A	T	13: 30,564,962 (GRCm39)	D9V	probably benign	Het
Ahcyl	T	C	16: 45,974,201 (GRCm39)	E392G	probably damaging	Het
Ankrd13c	T	A	3: 157,697,374 (GRCm39)	Y326*	probably null	Het
Ano2	A	G	6: 125,687,696 (GRCm39)	D67G	probably benign	Het
Arhgef5	G	A	6: 43,256,507 (GRCm39)	R1205H	probably damaging	Het
Ascc3	T	A	10: 50,590,448 (GRCm39)	Y1055*	probably null	Het
Atad5	C	T	11: 80,023,862 (GRCm39)	A1658V	probably benign	Het
Atp6ap1l	T	C	13: 91,031,926 (GRCm39)	D252G	probably damaging	Het
Bdkrb2	T	C	12: 105,558,800 (GRCm39)	V347A	possibly damaging	Het
Ccdc187	A	T	2: 26,146,007 (GRCm39)	L1194Q	probably damaging	Het
Chd9	A	C	8: 91,710,115 (GRCm39)	D770A	unknown	Het
Chd9	A	G	8: 91,760,846 (GRCm39)	D2197G	unknown	Het
Clip2	C	A	5: 134,531,484 (GRCm39)	E774*	probably null	Het
Clspn	A	G	4: 126,459,993 (GRCm39)	T407A	probably benign	Het
Col24a1	T	A	3: 144,998,926 (GRCm39)		probably null	Het
Cradd	T	A	10: 95,158,637 (GRCm39)	T37S	probably damaging	Het
Cspg4b	A	G	13: 113,456,501 (GRCm39)	D849G		Het
Ctbp2	A	G	7: 132,600,610 (GRCm39)	F70S	probably damaging	Het
D3Ertd751e	A	T	3: 41,701,000 (GRCm39)	E6D	probably damaging	Het
Dst	T	A	1: 34,230,754 (GRCm39)	F2782L	probably benign	Het
Dync2h1	A	G	9: 7,159,479 (GRCm39)		probably null	Het
Eif2s1	G	T	12: 78,927,969 (GRCm39)	G215V	probably damaging	Het
Epg5	A	T	18: 78,002,252 (GRCm39)	D557V	possibly damaging	Het
Eya4	C	T	10: 22,999,749 (GRCm39)		probably null	Het
Fpr1	C	A	17: 18,097,242 (GRCm39)	R249L	probably damaging	Het
Fry	A	G	5: 150,339,788 (GRCm39)	T1520A	probably benign	Het
Gapvd1	C	T	2: 34,580,473 (GRCm39)		probably null	Het
Gemin4	A	C	11: 76,104,278 (GRCm39)	L161*	probably null	Het
Gid8	A	T	2: 180,359,779 (GRCm39)	K221I	probably benign	Het
Gm21028	A	C	7: 42,227,913 (GRCm39)	C34G	probably damaging	Het
Greb1	A	G	12: 16,774,882 (GRCm39)	S172P	probably damaging	Het
Herc2	A	G	7: 55,832,423 (GRCm39)	I3040V	possibly damaging	Het
Hmcn2	T	A	2: 31,306,824 (GRCm39)	V3190E	probably damaging	Het
Hrnr	G	T	3: 93,230,448 (GRCm39)	G229*	probably null	Het
Igfn1	A	T	1: 135,891,738 (GRCm39)	V2259D	probably damaging	Het
Ism2	A	G	12: 87,326,814 (GRCm39)	F375S	probably damaging	Het
Kcnk4	T	A	19: 6,903,478 (GRCm39)	D357V	probably damaging	Het
Knl1	A	G	2: 118,901,040 (GRCm39)	R914G	possibly damaging	Het
Mars2	T	C	1: 55,276,729 (GRCm39)	S111P	probably damaging	Het
Mogat2	G	A	7: 98,881,673 (GRCm39)	P88S	possibly damaging	Het
Msh2	T	A	17: 88,024,957 (GRCm39)	S612T	possibly damaging	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Or1j20	T	C	2: 36,759,890 (GRCm39)	V104A	probably benign	Het
Or2d3c	A	T	7: 106,526,111 (GRCm39)	L185Q	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,390 (GRCm39)	L259P	unknown	Het
Or5m11b	T	A	2: 85,805,780 (GRCm39)	S64R	possibly damaging	Het
Or6c202	T	A	10: 128,995,939 (GRCm39)	I305F	probably benign	Het
Or7e174	A	T	9: 20,012,169 (GRCm39)	Y38F	probably damaging	Het
P2rx7	A	T	5: 122,804,205 (GRCm39)		probably null	Het
Pard3	A	T	8: 128,319,573 (GRCm39)	I1149L	probably damaging	Het
Pcdha8	T	A	18: 37,125,830 (GRCm39)	I104N	probably damaging	Het
Pecr	G	A	1: 72,306,624 (GRCm39)	T219I	probably benign	Het
Pgap2	A	T	7: 101,859,774 (GRCm39)		probably benign	Het
Phf7	T	C	14: 30,963,745 (GRCm39)	R76G	probably benign	Het
Pigu	T	C	2: 155,141,090 (GRCm39)	T268A	probably damaging	Het
Piwil4	T	C	9: 14,641,289 (GRCm39)	T231A	possibly damaging	Het
Pkd1l1	T	G	11: 8,895,202 (GRCm39)	E636A		Het
Plscr3	T	C	11: 69,738,316 (GRCm39)	S55P	unknown	Het
Pnlip	T	A	19: 58,664,976 (GRCm39)	I268N	probably damaging	Het
Podxl	A	T	6: 31,501,929 (GRCm39)	H343Q	probably benign	Het
Prkcd	T	C	14: 30,327,793 (GRCm39)	T213A	probably benign	Het
Prss22	T	A	17: 24,215,419 (GRCm39)	Q119L	probably benign	Het
Psme3ip1	T	C	8: 95,302,327 (GRCm39)	N235D	possibly damaging	Het
Ptprcap	A	G	19: 4,206,238 (GRCm39)	E107G	possibly damaging	Het
Ptprg	A	G	14: 12,154,198 (GRCm38)	T640A	possibly damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Rasa4	A	G	5: 136,124,448 (GRCm39)	T166A	probably benign	Het
Sbf2	T	C	7: 109,998,555 (GRCm39)	E626G	possibly damaging	Het
Scn2a	T	A	2: 65,512,850 (GRCm39)	Y203*	probably null	Het
Serpinb1a	G	C	13: 33,026,981 (GRCm39)	H320Q	probably damaging	Het
Shisa7	G	A	7: 4,832,920 (GRCm39)	T464I	probably benign	Het
Slc47a2	G	A	11: 61,199,699 (GRCm39)	A399V	possibly damaging	Het
Snrnp200	A	G	2: 127,063,746 (GRCm39)	T642A	probably benign	Het
Spata31h1	A	G	10: 82,127,847 (GRCm39)	L1721S	possibly damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stag3	C	A	5: 138,299,770 (GRCm39)	L894M	probably damaging	Het
Sun2	A	T	15: 79,618,313 (GRCm39)	F284Y	probably benign	Het
Tpx2	T	A	2: 152,718,550 (GRCm39)	N184K	probably benign	Het
Trpa1	A	T	1: 14,968,334 (GRCm39)	N477K	probably damaging	Het
Ttbk2	C	T	2: 120,620,791 (GRCm39)	R157H	probably damaging	Het
Ttn	C	T	2: 76,537,649 (GRCm39)	E34760K	probably benign	Het
Tysnd1	T	C	10: 61,532,427 (GRCm39)	S360P	probably damaging	Het
Uqcc5	A	G	14: 30,846,560 (GRCm39)	V53A	probably damaging	Het
Usp34	T	A	11: 23,311,683 (GRCm39)	L511I	probably damaging	Het
Vmn2r71	A	T	7: 85,273,468 (GRCm39)	T761S	possibly damaging	Het
Zdhhc18	G	T	4: 133,360,482 (GRCm39)	C73*	probably null	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfy1	T	C	Y: 735,141 (GRCm39)	E214G	unknown	Het
Zmym5	T	A	14: 57,031,597 (GRCm39)	K504*	probably null	Het

Other mutations in Spag16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Spag16	APN	1	70,338,809 (GRCm39)	missense	probably damaging	1.00
IGL01129:Spag16	APN	1	69,935,681 (GRCm39)	missense	probably benign	0.01
IGL02117:Spag16	APN	1	69,909,479 (GRCm39)	missense	probably damaging	1.00
IGL02245:Spag16	APN	1	69,897,661 (GRCm39)	missense	probably benign
IGL02492:Spag16	APN	1	69,926,688 (GRCm39)	missense	probably benign
IGL02851:Spag16	APN	1	70,304,067 (GRCm39)	missense	possibly damaging	0.76
IGL03271:Spag16	APN	1	69,892,511 (GRCm39)	missense	probably benign	0.00
IGL03274:Spag16	APN	1	69,883,540 (GRCm39)	splice site	probably benign
PIT4243001:Spag16	UTSW	1	69,892,540 (GRCm39)	missense	probably damaging	1.00
R0084:Spag16	UTSW	1	70,035,998 (GRCm39)	missense	probably benign	0.02
R0513:Spag16	UTSW	1	70,532,927 (GRCm39)	splice site	probably benign
R0653:Spag16	UTSW	1	69,909,504 (GRCm39)	missense	probably damaging	1.00
R1165:Spag16	UTSW	1	70,036,036 (GRCm39)	missense	probably benign	0.04
R1178:Spag16	UTSW	1	69,962,817 (GRCm39)	splice site	probably benign
R1180:Spag16	UTSW	1	69,962,817 (GRCm39)	splice site	probably benign
R1404:Spag16	UTSW	1	69,934,439 (GRCm39)	splice site	probably benign
R1547:Spag16	UTSW	1	69,912,402 (GRCm39)	missense	possibly damaging	0.51
R1689:Spag16	UTSW	1	70,500,277 (GRCm39)	missense	probably benign	0.01
R1699:Spag16	UTSW	1	70,036,015 (GRCm39)	missense	probably benign	0.05
R1714:Spag16	UTSW	1	69,882,164 (GRCm39)	missense	probably damaging	0.97
R1724:Spag16	UTSW	1	70,532,941 (GRCm39)	missense	probably damaging	1.00
R1873:Spag16	UTSW	1	69,935,744 (GRCm39)	splice site	probably benign
R2196:Spag16	UTSW	1	69,897,681 (GRCm39)	missense	possibly damaging	0.92
R2207:Spag16	UTSW	1	70,764,043 (GRCm39)	missense	probably benign	0.00
R4058:Spag16	UTSW	1	69,892,487 (GRCm39)	missense	probably damaging	0.96
R4276:Spag16	UTSW	1	69,912,640 (GRCm39)	intron	probably benign
R4497:Spag16	UTSW	1	70,532,989 (GRCm39)	missense	probably damaging	1.00
R4560:Spag16	UTSW	1	69,883,455 (GRCm39)	missense	probably benign	0.05
R4648:Spag16	UTSW	1	69,866,194 (GRCm39)	missense	probably null	0.99
R4972:Spag16	UTSW	1	70,764,087 (GRCm39)	missense	probably damaging	1.00
R5027:Spag16	UTSW	1	69,962,963 (GRCm39)	intron	probably benign
R5032:Spag16	UTSW	1	69,892,511 (GRCm39)	missense	probably benign	0.00
R5174:Spag16	UTSW	1	70,532,955 (GRCm39)	missense	probably damaging	1.00
R5276:Spag16	UTSW	1	69,935,742 (GRCm39)	critical splice donor site	probably null
R5537:Spag16	UTSW	1	69,866,175 (GRCm39)	missense	probably benign
R5706:Spag16	UTSW	1	69,909,448 (GRCm39)	missense	probably benign	0.01
R5834:Spag16	UTSW	1	69,962,873 (GRCm39)	missense	probably benign	0.00
R6131:Spag16	UTSW	1	70,764,242 (GRCm39)	splice site	probably null
R6246:Spag16	UTSW	1	69,962,980 (GRCm39)	missense	probably benign	0.45
R7164:Spag16	UTSW	1	70,764,025 (GRCm39)	missense	possibly damaging	0.88
R7261:Spag16	UTSW	1	70,338,780 (GRCm39)	missense	possibly damaging	0.56
R7298:Spag16	UTSW	1	69,958,585 (GRCm39)	splice site	probably null
R7431:Spag16	UTSW	1	69,963,031 (GRCm39)	missense	unknown
R7508:Spag16	UTSW	1	69,926,679 (GRCm39)	missense	possibly damaging	0.93
R7566:Spag16	UTSW	1	69,909,487 (GRCm39)	missense	probably damaging	1.00
R7570:Spag16	UTSW	1	70,036,000 (GRCm39)	missense	probably benign	0.00
R7598:Spag16	UTSW	1	69,909,467 (GRCm39)	missense	probably damaging	1.00
R7942:Spag16	UTSW	1	69,866,247 (GRCm39)	missense	probably benign	0.11
R8047:Spag16	UTSW	1	69,882,155 (GRCm39)	missense	probably damaging	1.00
R8132:Spag16	UTSW	1	70,420,461 (GRCm39)	missense	probably damaging	1.00
R8329:Spag16	UTSW	1	69,934,407 (GRCm39)	missense	probably benign	0.00
R8870:Spag16	UTSW	1	70,036,017 (GRCm39)	missense	probably benign	0.05
R8930:Spag16	UTSW	1	70,338,928 (GRCm39)	critical splice donor site	probably null
R8932:Spag16	UTSW	1	70,338,928 (GRCm39)	critical splice donor site	probably null
R8954:Spag16	UTSW	1	70,036,004 (GRCm39)	missense
R8998:Spag16	UTSW	1	69,935,706 (GRCm39)	missense	probably benign	0.00
R9077:Spag16	UTSW	1	70,532,930 (GRCm39)	splice site	probably benign
R9144:Spag16	UTSW	1	70,420,459 (GRCm39)	missense	probably damaging	1.00
R9145:Spag16	UTSW	1	70,420,459 (GRCm39)	missense	probably damaging	1.00
R9148:Spag16	UTSW	1	70,420,459 (GRCm39)	missense	probably damaging	1.00
R9160:Spag16	UTSW	1	69,962,873 (GRCm39)	missense	probably benign	0.00
R9192:Spag16	UTSW	1	69,963,007 (GRCm39)	missense	unknown
R9436:Spag16	UTSW	1	69,892,539 (GRCm39)	missense	probably damaging	0.96
R9582:Spag16	UTSW	1	69,897,717 (GRCm39)	missense	probably benign	0.00
R9660:Spag16	UTSW	1	69,962,842 (GRCm39)	missense	probably benign	0.03
R9666:Spag16	UTSW	1	70,764,072 (GRCm39)	missense	probably damaging	1.00
R9671:Spag16	UTSW	1	69,883,495 (GRCm39)	missense	probably benign	0.29
R9728:Spag16	UTSW	1	69,962,842 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AAGTACCGTTGGATGTTTGAGAATG -3'
(R):5'- GGAAGGTATTAGTTGTTGGAAACTC -3'

Sequencing Primer
(F):5'- ATGTATTCCTCATATAGGTTGGGGAC -3'
(R):5'- AGTTGTTGGAAACTCATGTAAGAG -3'

Posted On

2019-09-13