Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02377:Spam1'

291172

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02377

Quality Score

Status

Chromosome

Chromosomal Location

24791187-24801047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24796696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 216 (G216S)

Ref Sequence

ENSEMBL: ENSMUSP00000143970 (fasta)

Gene Model

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

AlphaFold

P48794

Predicted Effect

probably damaging
Transcript: ENSMUST00000031693
AA Change: G216S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: G216S

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 damaging
Transcript: ENSMUST00000202331
AA Change: G216S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: G216S

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 damaging
Transcript: ENSMUST00000202569
AA Change: G216S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: G216S

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,937,689 (GRCm39)		probably benign	Het
Abca15	T	C	7: 119,965,133 (GRCm39)		probably benign	Het
App	T	C	16: 84,879,719 (GRCm39)	Q138R	probably benign	Het
Asah2	T	A	19: 31,986,814 (GRCm39)	I529F	probably benign	Het
Atp8b3	A	G	10: 80,356,128 (GRCm39)	S1195P	probably benign	Het
Brca1	A	G	11: 101,415,149 (GRCm39)	M134T	probably benign	Het
Cacna1s	T	C	1: 135,996,732 (GRCm39)	L111P	probably damaging	Het
Capns2	A	T	8: 93,628,215 (GRCm39)	N35Y	probably benign	Het
Ccne1	A	G	7: 37,798,415 (GRCm39)		probably null	Het
Cfap91	G	T	16: 38,153,181 (GRCm39)		probably benign	Het
Csf1r	G	T	18: 61,257,540 (GRCm39)		probably benign	Het
Dipk2b	T	A	X: 18,313,930 (GRCm39)	I131F	possibly damaging	Het
Dlg3	A	T	X: 99,817,007 (GRCm39)	Y326F	possibly damaging	Het
Dnah8	T	C	17: 31,013,770 (GRCm39)	V3837A	probably damaging	Het
Dock10	A	G	1: 80,562,711 (GRCm39)		probably null	Het
Emg1	A	G	6: 124,681,620 (GRCm39)	V208A	probably benign	Het
Eml6	T	A	11: 29,727,282 (GRCm39)	D1280V	probably damaging	Het
Ep400	T	C	5: 110,868,691 (GRCm39)	D911G	unknown	Het
Fam171a1	T	C	2: 3,224,623 (GRCm39)		probably null	Het
Fcgbp	T	C	7: 27,806,395 (GRCm39)	V2121A	possibly damaging	Het
Fggy	G	A	4: 95,511,714 (GRCm39)		probably benign	Het
Fignl1	G	T	11: 11,752,845 (GRCm39)	T70K	possibly damaging	Het
Fndc3b	T	C	3: 27,674,801 (GRCm39)	E47G	probably damaging	Het
Frmd4a	A	G	2: 4,539,385 (GRCm39)	K189E	possibly damaging	Het
Hpse	T	A	5: 100,839,199 (GRCm39)	Y383F	probably damaging	Het
Ip6k2	T	C	9: 108,681,798 (GRCm39)	L197P	probably damaging	Het
Klf1	A	C	8: 85,631,561 (GRCm39)	H375P	probably damaging	Het
Krtap6-5	T	A	16: 88,844,734 (GRCm39)		probably benign	Het
Lacc1	A	T	14: 77,267,055 (GRCm39)	S403T	probably damaging	Het
Lama3	A	G	18: 12,689,807 (GRCm39)	I2850V	possibly damaging	Het
Lats2	C	T	14: 57,929,052 (GRCm39)	R941Q	probably damaging	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrig3	A	T	10: 125,850,743 (GRCm39)	H1103L	probably benign	Het
Lrrc40	G	A	3: 157,742,365 (GRCm39)	M1I	probably null	Het
Magee2	A	T	X: 103,900,399 (GRCm39)	V84D	possibly damaging	Het
Msantd2	G	A	9: 37,434,602 (GRCm39)	V281I	possibly damaging	Het
Mycbpap	A	G	11: 94,394,076 (GRCm39)	V340A	probably damaging	Het
Myh6	A	T	14: 55,181,775 (GRCm39)	M1842K	probably benign	Het
Mylk4	T	C	13: 32,906,130 (GRCm39)	D145G	possibly damaging	Het
Nfkbid	C	T	7: 30,124,689 (GRCm39)	Q160*	probably null	Het
Or11h6	T	A	14: 50,879,975 (GRCm39)		probably null	Het
Or2y1d	A	T	11: 49,321,859 (GRCm39)	K185N	probably damaging	Het
Or5w1b	T	A	2: 87,475,630 (GRCm39)	Y279F	probably damaging	Het
Or7e168	C	T	9: 19,720,343 (GRCm39)	S243F	probably damaging	Het
Or8c11	A	T	9: 38,289,542 (GRCm39)	T122S	probably damaging	Het
Or9q2	T	G	19: 13,772,693 (GRCm39)	Q94P	possibly damaging	Het
Pdgfrb	A	C	18: 61,213,404 (GRCm39)	Q916P	probably damaging	Het
Pex14	T	C	4: 149,050,743 (GRCm39)	Q174R	probably benign	Het
Pogz	T	C	3: 94,786,321 (GRCm39)	S970P	probably damaging	Het
Potegl	T	C	2: 23,102,667 (GRCm39)		probably benign	Het
Rabggta	A	G	14: 55,955,952 (GRCm39)	V165A	possibly damaging	Het
Rdh10	G	A	1: 16,176,438 (GRCm39)	W66*	probably null	Het
Ripor2	T	A	13: 24,879,549 (GRCm39)		probably benign	Het
Slc35g1	T	A	19: 38,391,678 (GRCm39)	M320K	possibly damaging	Het
Slc9a7	A	G	X: 20,068,963 (GRCm39)	Y197H	probably damaging	Het
Smn1	T	C	13: 100,272,192 (GRCm39)		probably benign	Het
Spata31	A	T	13: 65,068,194 (GRCm39)	N114I	probably damaging	Het
Sptbn1	A	T	11: 30,069,491 (GRCm39)	V1615D	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Thoc2	T	A	X: 40,914,355 (GRCm39)	Q1005H	possibly damaging	Het
Thra	G	A	11: 98,652,742 (GRCm39)	R189Q	probably damaging	Het
Trappc11	A	T	8: 47,983,685 (GRCm39)		probably null	Het
Vps13d	G	T	4: 144,882,934 (GRCm39)	H886Q	probably damaging	Het
Zfp157	G	A	5: 138,445,859 (GRCm39)	W71*	probably null	Het

Other mutations in Spam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:Spam1	APN	6	24,796,722 (GRCm39)	nonsense	probably null
IGL02152:Spam1	APN	6	24,800,802 (GRCm39)	utr 3 prime	probably benign
IGL02666:Spam1	APN	6	24,796,123 (GRCm39)	missense	possibly damaging	0.67
IGL02968:Spam1	APN	6	24,796,442 (GRCm39)	missense	possibly damaging	0.84
IGL03004:Spam1	APN	6	24,796,913 (GRCm39)	missense	probably damaging	1.00
IGL03136:Spam1	APN	6	24,797,010 (GRCm39)	splice site	probably benign
I2288:Spam1	UTSW	6	24,796,477 (GRCm39)	missense	probably benign	0.00
I2289:Spam1	UTSW	6	24,796,477 (GRCm39)	missense	probably benign	0.00
R0279:Spam1	UTSW	6	24,800,418 (GRCm39)	missense	probably benign
R0454:Spam1	UTSW	6	24,797,837 (GRCm39)	missense	probably damaging	0.99
R0486:Spam1	UTSW	6	24,796,394 (GRCm39)	missense	probably damaging	1.00
R0734:Spam1	UTSW	6	24,796,948 (GRCm39)	missense	probably benign	0.17
R0811:Spam1	UTSW	6	24,796,886 (GRCm39)	missense	probably damaging	1.00
R0812:Spam1	UTSW	6	24,796,886 (GRCm39)	missense	probably damaging	1.00
R1294:Spam1	UTSW	6	24,796,906 (GRCm39)	missense	probably benign	0.12
R1703:Spam1	UTSW	6	24,796,256 (GRCm39)	missense	probably damaging	1.00
R2156:Spam1	UTSW	6	24,796,267 (GRCm39)	missense	probably damaging	1.00
R2163:Spam1	UTSW	6	24,796,846 (GRCm39)	missense	probably benign	0.33
R2762:Spam1	UTSW	6	24,796,642 (GRCm39)	missense	possibly damaging	0.94
R2970:Spam1	UTSW	6	24,796,724 (GRCm39)	missense	probably damaging	1.00
R4646:Spam1	UTSW	6	24,800,586 (GRCm39)	missense	probably benign	0.01
R4664:Spam1	UTSW	6	24,796,661 (GRCm39)	missense	probably benign	0.01
R4923:Spam1	UTSW	6	24,796,655 (GRCm39)	missense	probably damaging	1.00
R5452:Spam1	UTSW	6	24,800,731 (GRCm39)	missense	probably benign	0.00
R5589:Spam1	UTSW	6	24,796,109 (GRCm39)	missense	probably benign	0.01
R5591:Spam1	UTSW	6	24,800,545 (GRCm39)	missense	probably damaging	0.99
R5861:Spam1	UTSW	6	24,796,570 (GRCm39)	missense	probably benign
R6481:Spam1	UTSW	6	24,796,929 (GRCm39)	missense	probably benign	0.01
R6564:Spam1	UTSW	6	24,796,355 (GRCm39)	missense	possibly damaging	0.90
R6754:Spam1	UTSW	6	24,796,315 (GRCm39)	missense	probably damaging	0.97
R7103:Spam1	UTSW	6	24,800,583 (GRCm39)	missense	probably benign	0.00
R7462:Spam1	UTSW	6	24,796,907 (GRCm39)	missense	probably damaging	0.99
R7559:Spam1	UTSW	6	24,800,452 (GRCm39)	missense	probably damaging	1.00
R8127:Spam1	UTSW	6	24,796,970 (GRCm39)	missense	possibly damaging	0.95
R8677:Spam1	UTSW	6	24,796,984 (GRCm39)	missense	probably benign	0.13
R9356:Spam1	UTSW	6	24,800,565 (GRCm39)	missense	probably damaging	1.00
R9783:Spam1	UTSW	6	24,796,226 (GRCm39)	missense	probably benign	0.01
X0022:Spam1	UTSW	6	24,797,885 (GRCm39)	missense	possibly damaging	0.52
Z1176:Spam1	UTSW	6	24,800,322 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16