Mutagenetix > Incidental Mutation

Incidental Mutation 'R7462:Spam1'

578496

Institutional Source

Beutler Lab

Gene Symbol

Spam1

Ensembl Gene

ENSMUSG00000029682

Gene Name

sperm adhesion molecule 1

Synonyms

Ph-20

MMRRC Submission

045536-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24791187-24801047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24796907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 286 (I286T)

Ref Sequence

ENSEMBL: ENSMUSP00000031693 (fasta)

Gene Model

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

AlphaFold

P48794

Predicted Effect

probably damaging
Transcript: ENSMUST00000031693
AA Change: I286T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: I286T

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: I286T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: I286T

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: I286T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: I286T

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

Meta Mutation Damage Score

0.5235

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	G	C	3: 126,736,683 (GRCm39)	T3067S	unknown	Het
Ankrd28	T	C	14: 31,500,886 (GRCm39)	N35S	probably benign	Het
Bicra	A	T	7: 15,713,060 (GRCm39)	S996T	possibly damaging	Het
Btbd7	T	C	12: 102,803,981 (GRCm39)	E353G	possibly damaging	Het
Cdhr2	A	T	13: 54,874,552 (GRCm39)	I875F	probably damaging	Het
Ceacam5	A	T	7: 17,494,764 (GRCm39)	Y924F	probably damaging	Het
Clca4b	A	G	3: 144,628,621 (GRCm39)	I362T	probably benign	Het
Dchs2	A	G	3: 83,253,462 (GRCm39)		probably null	Het
Dlc1	T	A	8: 37,405,118 (GRCm39)	T224S	unknown	Het
Dmxl2	T	C	9: 54,273,916 (GRCm39)		probably null	Het
Dnajc1	A	G	2: 18,313,710 (GRCm39)	F137S	probably damaging	Het
E130311K13Rik	T	C	3: 63,836,722 (GRCm39)	T24A	probably benign	Het
Eya1	T	C	1: 14,301,638 (GRCm39)	E317G	probably null	Het
Fpr-rs6	A	G	17: 20,402,485 (GRCm39)	L292P	probably damaging	Het
Gca	G	T	2: 62,502,753 (GRCm39)	D54Y	possibly damaging	Het
Gm45861	G	A	8: 28,024,517 (GRCm39)		probably null	Het
Gm57858	T	A	3: 36,080,055 (GRCm39)		probably null	Het
Gtf2a1l	A	G	17: 89,001,566 (GRCm39)	T141A	possibly damaging	Het
Hgsnat	T	C	8: 26,447,241 (GRCm39)	N351S	probably benign	Het
Htr1f	A	T	16: 64,746,383 (GRCm39)	V303E	probably damaging	Het
Iars2	C	A	1: 185,055,063 (GRCm39)	W302L	probably damaging	Het
Igkv4-74	T	A	6: 69,162,100 (GRCm39)	Q23L	possibly damaging	Het
Il18	A	T	9: 50,476,673 (GRCm39)		probably benign	Het
Ints4	A	G	7: 97,155,335 (GRCm39)	D329G	probably benign	Het
Itsn1	T	C	16: 91,650,073 (GRCm39)	F249S	possibly damaging	Het
Ktn1	A	G	14: 47,932,089 (GRCm39)	E672G	probably null	Het
Lhx6	A	G	2: 35,974,083 (GRCm39)	I359T	possibly damaging	Het
Lrp1b	T	C	2: 41,003,041 (GRCm39)	E2030G		Het
Macf1	T	A	4: 123,386,556 (GRCm39)	K1114N	probably damaging	Het
Mbd5	A	G	2: 49,147,892 (GRCm39)	M701V	possibly damaging	Het
Mcemp1	A	T	8: 3,717,065 (GRCm39)	M69L	probably benign	Het
Mfsd4b2	T	A	10: 39,797,877 (GRCm39)	K159N	probably benign	Het
Mroh2b	T	A	15: 4,938,109 (GRCm39)	D243E	probably damaging	Het
Muc21	T	C	17: 35,931,568 (GRCm39)	S873G	unknown	Het
Mug1	A	T	6: 121,852,399 (GRCm39)	Q829L	probably benign	Het
Nav3	A	T	10: 109,659,439 (GRCm39)	V726E	probably damaging	Het
Nfib	T	C	4: 82,271,826 (GRCm39)	Q247R	probably benign	Het
Npbwr1	T	C	1: 5,987,151 (GRCm39)	N121S	probably damaging	Het
Or1e19	T	C	11: 73,316,296 (GRCm39)	D171G	probably benign	Het
Or52b2	T	A	7: 104,986,707 (GRCm39)	D72V	probably damaging	Het
Or5h19	A	T	16: 58,856,379 (GRCm39)	C240*	probably null	Het
Pkd1l3	A	G	8: 110,355,409 (GRCm39)	S726G	probably benign	Het
Ppip5k1	A	T	2: 121,167,232 (GRCm39)	V847D	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Ripor2	G	A	13: 24,880,290 (GRCm39)	V385M	unknown	Het
Rufy1	C	T	11: 50,298,655 (GRCm39)	V379M	possibly damaging	Het
S100a5	A	G	3: 90,517,207 (GRCm39)	K26R	probably damaging	Het
Sin3a	T	C	9: 57,002,809 (GRCm39)	S234P	probably benign	Het
Sirt7	G	A	11: 120,511,618 (GRCm39)	T225I	probably benign	Het
Slc34a1	A	T	13: 24,006,401 (GRCm39)	T476S	probably damaging	Het
Slc38a6	T	A	12: 73,397,351 (GRCm39)	M331K	probably benign	Het
Syne1	T	A	10: 5,002,793 (GRCm39)	I214F	possibly damaging	Het
Tmtc1	A	G	6: 148,226,643 (GRCm39)	L427P	probably damaging	Het
Tpbg	G	A	9: 85,726,903 (GRCm39)	A291T	possibly damaging	Het
Zfp40	A	G	17: 23,397,362 (GRCm39)	F45S	possibly damaging	Het
Zfp451	C	T	1: 33,816,094 (GRCm39)	V619M	probably damaging	Het
Zim1	A	G	7: 6,680,811 (GRCm39)	L284P	probably damaging	Het
Zkscan4	A	G	13: 21,668,044 (GRCm39)	E165G	probably benign	Het
Zmynd11	T	A	13: 9,748,720 (GRCm39)	N154Y	probably benign	Het
Zscan12	A	T	13: 21,553,457 (GRCm39)	H427L	possibly damaging	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
IGL02377:Spam1	APN	6	24,796,696 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGACCCTAAGTATGATGGGC -3'
(R):5'- TGTTTGGGAGAATATAGAACAAGCC -3'

Sequencing Primer
(F):5'- CCCTAAGTATGATGGGCAGTGC -3'
(R):5'- CAAGCCCTGTTTACATTCTTAAGTG -3'

Posted On

2019-10-07