Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03136:Spam1'

410551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spam1

Ensembl Gene

ENSMUSG00000029682

Gene Name

sperm adhesion molecule 1

Synonyms

Ph-20

Accession Numbers

Genbank: NM_001079875.1, NM_009241.2

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

24791188-24801048 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 24797011 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031693] [ENSMUST00000202331] [ENSMUST00000202569]

Predicted Effect

probably benign
Transcript: ENSMUST00000031693

SMART Domains

Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	42	373	4.5e-136	PFAM
Blast:EGF	376	439	5e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000202331

SMART Domains

Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	42	373	4.5e-136	PFAM
Blast:EGF	376	439	5e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000202569

SMART Domains

Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	42	373	4.5e-136	PFAM
Blast:EGF	376	439	5e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202786

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male homozygotes for a targeted null mutation are normally fertile, but in vitro their sperm are slower at clearing cells from the cumulus mass. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,769,122	L7S	unknown	Het
Abr	C	T	11: 76,425,295	W571*	probably null	Het
Adam18	A	T	8: 24,641,836	C420S	probably damaging	Het
Akap5	G	T	12: 76,329,875	E694*	probably null	Het
Bbs1	T	C	19: 4,890,991	K565R	probably benign	Het
Brix1	A	G	15: 10,478,766	F189S	probably damaging	Het
Cnot4	C	A	6: 35,051,241	R480L	probably damaging	Het
Ctu2	A	G	8: 122,479,201		probably benign	Het
Dhcr7	A	G	7: 143,847,366	H422R	probably damaging	Het
Dock1	A	G	7: 135,168,389	M1793V	probably benign	Het
Dock7	A	G	4: 99,003,791	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,340,229		probably benign	Het
Ftsj3	C	T	11: 106,253,813	D117N	probably damaging	Het
Gphn	A	G	12: 78,481,333	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,852,985	A230V	probably damaging	Het
Hydin	G	A	8: 110,418,524	A836T	probably benign	Het
Ift52	G	T	2: 163,025,334	E71*	probably null	Het
Ms4a14	T	C	19: 11,304,411	D261G	possibly damaging	Het
Nid1	G	A	13: 13,500,499	V935I	probably benign	Het
Nrap	T	C	19: 56,342,255	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,028,861	V1340G	probably benign	Het
Olfr1442	T	A	19: 12,674,967	I254N	probably damaging	Het
Olfr169	A	T	16: 19,566,353	F177I	probably damaging	Het
Olfr974	T	C	9: 39,943,036	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,691,499	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,433,439	V80A	possibly damaging	Het
Pigw	A	G	11: 84,877,777	I242T	probably benign	Het
Prtg	T	G	9: 72,856,985	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,543,463	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,544,918	R577H	probably damaging	Het
Ryr3	G	A	2: 112,675,974		probably benign	Het
Selenoi	T	C	5: 30,257,727	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,310,765	C343R	probably benign	Het
Smurf2	A	T	11: 106,831,048	D527E	probably benign	Het
Stkld1	T	C	2: 26,951,423	V460A	probably benign	Het
Tgoln1	G	A	6: 72,614,113	R339W	probably damaging	Het
Tprg	T	C	16: 25,412,762		probably benign	Het
Treml1	T	G	17: 48,364,851		probably benign	Het
Ttc39b	A	T	4: 83,237,280	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,249,763	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 86,148,703	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,950,310	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,585,956	C87R	probably damaging	Het
Zfp790	T	A	7: 29,829,895	Y668*	probably null	Het

Other mutations in Spam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:Spam1	APN	6	24796723	nonsense	probably null
IGL02152:Spam1	APN	6	24800803	utr 3 prime	probably benign
IGL02377:Spam1	APN	6	24796697	missense	probably damaging	1.00
IGL02666:Spam1	APN	6	24796124	missense	possibly damaging	0.67
IGL02968:Spam1	APN	6	24796443	missense	possibly damaging	0.84
IGL03004:Spam1	APN	6	24796914	missense	probably damaging	1.00
I2288:Spam1	UTSW	6	24796478	missense	probably benign	0.00
I2289:Spam1	UTSW	6	24796478	missense	probably benign	0.00
R0279:Spam1	UTSW	6	24800419	missense	probably benign
R0454:Spam1	UTSW	6	24797838	missense	probably damaging	0.99
R0486:Spam1	UTSW	6	24796395	missense	probably damaging	1.00
R0734:Spam1	UTSW	6	24796949	missense	probably benign	0.17
R0811:Spam1	UTSW	6	24796887	missense	probably damaging	1.00
R0812:Spam1	UTSW	6	24796887	missense	probably damaging	1.00
R1294:Spam1	UTSW	6	24796907	missense	probably benign	0.12
R1703:Spam1	UTSW	6	24796257	missense	probably damaging	1.00
R2156:Spam1	UTSW	6	24796268	missense	probably damaging	1.00
R2163:Spam1	UTSW	6	24796847	missense	probably benign	0.33
R2762:Spam1	UTSW	6	24796643	missense	possibly damaging	0.94
R2970:Spam1	UTSW	6	24796725	missense	probably damaging	1.00
R4646:Spam1	UTSW	6	24800587	missense	probably benign	0.01
R4664:Spam1	UTSW	6	24796662	missense	probably benign	0.01
R4923:Spam1	UTSW	6	24796656	missense	probably damaging	1.00
R5452:Spam1	UTSW	6	24800732	missense	probably benign	0.00
R5589:Spam1	UTSW	6	24796110	missense	probably benign	0.01
R5591:Spam1	UTSW	6	24800546	missense	probably damaging	0.99
R5861:Spam1	UTSW	6	24796571	missense	probably benign
R6481:Spam1	UTSW	6	24796930	missense	probably benign	0.01
R6564:Spam1	UTSW	6	24796356	missense	possibly damaging	0.90
R6754:Spam1	UTSW	6	24796316	missense	probably damaging	0.97
R7103:Spam1	UTSW	6	24800584	missense	probably benign	0.00
R7462:Spam1	UTSW	6	24796908	missense	probably damaging	0.99
R7559:Spam1	UTSW	6	24800453	missense	probably damaging	1.00
R8127:Spam1	UTSW	6	24796971	missense	possibly damaging	0.95
X0022:Spam1	UTSW	6	24797886	missense	possibly damaging	0.52
Z1176:Spam1	UTSW	6	24800323	missense	probably damaging	1.00

Posted On

2016-08-02