Mutagenetix > Incidental Mutation

Incidental Mutation 'R6086:Spmap2l'

482472

Institutional Source

Beutler Lab

Gene Symbol

Spmap2l

Ensembl Gene

ENSMUSG00000029248

Gene Name

sperm microtubule associated protein 2 like

Synonyms

1700023E05Rik, Thegl

MMRRC Submission

044427-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77163879-77209382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77209152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 458 (V458E)

Ref Sequence

ENSEMBL: ENSMUSP00000112814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031161] [ENSMUST00000117880]

AlphaFold

Q9DA15

Predicted Effect

probably benign
Transcript: ENSMUST00000031161
AA Change: V458E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: V458E

Domain	Start	End	E-Value	Type
low complexity region	21	30	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
THEG	172	190	4.56e2	SMART
THEG	212	231	5.84e0	SMART
THEG	258	277	3.1e-1	SMART
THEG	291	310	8.37e2	SMART
THEG	327	346	7.65e1	SMART
THEG	367	386	3.61e1	SMART
THEG	403	422	1.15e1	SMART
THEG	440	459	9.98e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117880
AA Change: V458E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: V458E

Domain	Start	End	E-Value	Type
low complexity region	21	30	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
THEG	172	190	4.56e2	SMART
THEG	212	231	5.84e0	SMART
THEG	258	277	3.1e-1	SMART
THEG	291	310	8.37e2	SMART
THEG	327	346	7.65e1	SMART
THEG	367	386	3.61e1	SMART
THEG	403	422	1.15e1	SMART
THEG	440	459	9.98e0	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	G	T	12: 8,065,164 (GRCm39)	K4044N	probably benign	Het
Asic4	G	A	1: 75,449,887 (GRCm39)	V468I	possibly damaging	Het
Atf4	T	A	15: 80,141,654 (GRCm39)	V348D	probably benign	Het
Bcl9	A	G	3: 97,112,840 (GRCm39)	V1205A	possibly damaging	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cap2	C	A	13: 46,789,188 (GRCm39)	P131Q	probably damaging	Het
Cdyl2	A	G	8: 117,316,035 (GRCm39)	S318P	probably damaging	Het
Ces1a	T	G	8: 93,753,981 (GRCm39)	N341H	probably benign	Het
Cimap2	T	C	4: 106,470,403 (GRCm39)	E218G	probably damaging	Het
Crlf3	C	T	11: 79,939,436 (GRCm39)	V352M	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyren	A	G	6: 34,851,555 (GRCm39)	S127P	probably damaging	Het
Dnah2	T	C	11: 69,406,834 (GRCm39)	T529A	probably benign	Het
Dnah9	C	T	11: 65,880,741 (GRCm39)	D2619N	probably damaging	Het
Dnah9	A	C	11: 65,976,000 (GRCm39)	S1350A	probably benign	Het
Dnajc6	C	T	4: 101,455,004 (GRCm39)	S65L	probably benign	Het
Dnm3	C	A	1: 162,148,602 (GRCm39)	R256S	probably damaging	Het
Enpp2	T	C	15: 54,709,230 (GRCm39)	D795G	probably damaging	Het
Fah	A	T	7: 84,238,120 (GRCm39)	W367R	probably damaging	Het
Fam220a	T	A	5: 143,548,796 (GRCm39)	H69Q	probably benign	Het
Fgd3	T	A	13: 49,440,772 (GRCm39)	T220S	probably benign	Het
Furin	G	T	7: 80,045,179 (GRCm39)	H248Q	probably damaging	Het
Gabrg1	A	T	5: 70,911,396 (GRCm39)	L410Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm9742	T	C	13: 8,080,069 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	G	2: 132,380,034 (GRCm39)	S252P	probably damaging	Het
Hnrnpdl	C	T	5: 100,184,340 (GRCm39)	G398S	probably null	Het
Hspa1l	T	C	17: 35,197,131 (GRCm39)	V390A	possibly damaging	Het
Htr3b	T	C	9: 48,858,598 (GRCm39)	S94G	probably benign	Het
Klf10	G	T	15: 38,297,181 (GRCm39)	S271R	probably benign	Het
Klk1b3	T	A	7: 43,851,158 (GRCm39)	L197Q	probably damaging	Het
Knl1	A	G	2: 118,924,549 (GRCm39)	R1861G	probably damaging	Het
Myo9a	C	T	9: 59,697,340 (GRCm39)	Q374*	probably null	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncapg	T	C	5: 45,850,578 (GRCm39)	L728P	probably damaging	Het
Nfxl1	A	C	5: 72,698,362 (GRCm39)	F228V	probably benign	Het
Ntaq1	C	A	15: 58,014,024 (GRCm39)	A71E	probably damaging	Het
Oc90	A	G	15: 65,761,560 (GRCm39)	S153P	probably damaging	Het
Or4c123	A	G	2: 89,127,198 (GRCm39)	C139R	probably damaging	Het
Or5b105	A	G	19: 13,079,745 (GRCm39)	*308Q	probably null	Het
Pbk	A	T	14: 66,052,702 (GRCm39)	K182*	probably null	Het
Piezo1	A	G	8: 123,228,396 (GRCm39)	F296S	possibly damaging	Het
Psmg1	T	A	16: 95,781,244 (GRCm39)	Y288F	probably damaging	Het
Rab11fip4	G	A	11: 79,574,306 (GRCm39)	D132N	probably damaging	Het
Recql4	T	C	15: 76,588,787 (GRCm39)	D1051G	probably damaging	Het
Reep5	A	C	18: 34,490,184 (GRCm39)	D104E	probably damaging	Het
Rnpepl1	T	C	1: 92,845,403 (GRCm39)	Y441H	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sema3b	T	C	9: 107,478,047 (GRCm39)	D446G	probably damaging	Het
Sema4d	C	T	13: 51,867,781 (GRCm39)	R190Q	probably damaging	Het
Slco3a1	G	A	7: 73,968,338 (GRCm39)	R461C	possibly damaging	Het
Tenm2	T	A	11: 35,899,473 (GRCm39)	I2562F	possibly damaging	Het
Tmem40	G	T	6: 115,710,628 (GRCm39)	N120K	possibly damaging	Het
Tmod3	T	C	9: 75,407,405 (GRCm39)	H351R	probably benign	Het
Tnn	C	T	1: 159,913,690 (GRCm39)	V1268M	probably damaging	Het
Tpmt	T	A	13: 47,188,506 (GRCm39)	D132V	probably damaging	Het
Trgc3	T	C	13: 19,447,454 (GRCm39)	S136P	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Tsen2	A	G	6: 115,537,036 (GRCm39)	E264G	probably benign	Het
Urah	A	G	7: 140,416,711 (GRCm39)	I60M	probably benign	Het
Vmn2r26	T	A	6: 124,016,519 (GRCm39)	S328T	possibly damaging	Het
Vmn2r27	G	C	6: 124,168,958 (GRCm39)	T724R	probably damaging	Het
Washc2	A	G	6: 116,233,177 (GRCm39)		probably null	Het
Zfp955b	T	A	17: 33,521,478 (GRCm39)	W316R	probably benign	Het
Zranb2	T	C	3: 157,248,883 (GRCm39)		probably null	Het

Other mutations in Spmap2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Spmap2l	APN	5	77,208,678 (GRCm39)	missense	probably damaging	1.00
IGL02008:Spmap2l	APN	5	77,208,605 (GRCm39)	missense	probably benign	0.01
IGL02014:Spmap2l	APN	5	77,195,002 (GRCm39)	missense	probably damaging	0.99
IGL02525:Spmap2l	APN	5	77,164,400 (GRCm39)	missense	probably benign	0.08
IGL03036:Spmap2l	APN	5	77,164,197 (GRCm39)	missense	possibly damaging	0.86
IGL03200:Spmap2l	APN	5	77,208,711 (GRCm39)	missense	possibly damaging	0.66
IGL03302:Spmap2l	APN	5	77,202,423 (GRCm39)	missense	probably benign	0.09
R0242:Spmap2l	UTSW	5	77,164,152 (GRCm39)	nonsense	probably null
R0242:Spmap2l	UTSW	5	77,164,152 (GRCm39)	nonsense	probably null
R0483:Spmap2l	UTSW	5	77,185,204 (GRCm39)	splice site	probably benign
R1875:Spmap2l	UTSW	5	77,202,431 (GRCm39)	missense	probably benign	0.29
R2121:Spmap2l	UTSW	5	77,208,605 (GRCm39)	missense	probably benign	0.01
R2232:Spmap2l	UTSW	5	77,207,252 (GRCm39)	missense	possibly damaging	0.84
R2280:Spmap2l	UTSW	5	77,207,214 (GRCm39)	missense	probably damaging	1.00
R2281:Spmap2l	UTSW	5	77,207,214 (GRCm39)	missense	probably damaging	1.00
R4422:Spmap2l	UTSW	5	77,202,383 (GRCm39)	missense	possibly damaging	0.91
R4423:Spmap2l	UTSW	5	77,202,383 (GRCm39)	missense	possibly damaging	0.91
R4424:Spmap2l	UTSW	5	77,202,383 (GRCm39)	missense	possibly damaging	0.91
R4935:Spmap2l	UTSW	5	77,185,200 (GRCm39)	critical splice donor site	probably null
R5041:Spmap2l	UTSW	5	77,203,928 (GRCm39)	missense	probably benign	0.05
R5175:Spmap2l	UTSW	5	77,164,317 (GRCm39)	missense	probably benign	0.00
R5560:Spmap2l	UTSW	5	77,164,333 (GRCm39)	missense	possibly damaging	0.61
R6193:Spmap2l	UTSW	5	77,164,183 (GRCm39)	missense	possibly damaging	0.85
R7070:Spmap2l	UTSW	5	77,195,124 (GRCm39)	critical splice donor site	probably null
R7453:Spmap2l	UTSW	5	77,208,633 (GRCm39)	missense	probably damaging	1.00
R7703:Spmap2l	UTSW	5	77,164,444 (GRCm39)	missense	probably benign	0.34
R8534:Spmap2l	UTSW	5	77,207,325 (GRCm39)	missense	probably damaging	1.00
R8899:Spmap2l	UTSW	5	77,185,200 (GRCm39)	critical splice donor site	probably null
R9126:Spmap2l	UTSW	5	77,164,453 (GRCm39)	missense	probably damaging	0.96
R9525:Spmap2l	UTSW	5	77,195,138 (GRCm39)	missense	probably benign	0.01
RF007:Spmap2l	UTSW	5	77,164,255 (GRCm39)	small insertion	probably benign
RF010:Spmap2l	UTSW	5	77,164,274 (GRCm39)	small insertion	probably benign
RF014:Spmap2l	UTSW	5	77,164,247 (GRCm39)	small insertion	probably benign
RF016:Spmap2l	UTSW	5	77,164,255 (GRCm39)	small insertion	probably benign
RF020:Spmap2l	UTSW	5	77,164,247 (GRCm39)	small insertion	probably benign
RF028:Spmap2l	UTSW	5	77,164,248 (GRCm39)	small insertion	probably benign
RF030:Spmap2l	UTSW	5	77,164,248 (GRCm39)	small insertion	probably benign
RF031:Spmap2l	UTSW	5	77,164,257 (GRCm39)	small insertion	probably benign
RF033:Spmap2l	UTSW	5	77,164,276 (GRCm39)	small insertion	probably benign
RF033:Spmap2l	UTSW	5	77,164,252 (GRCm39)	small insertion	probably benign
RF036:Spmap2l	UTSW	5	77,164,276 (GRCm39)	small insertion	probably benign
RF037:Spmap2l	UTSW	5	77,164,268 (GRCm39)	small insertion	probably benign
RF039:Spmap2l	UTSW	5	77,164,249 (GRCm39)	small insertion	probably benign
RF044:Spmap2l	UTSW	5	77,164,252 (GRCm39)	small insertion	probably benign
RF046:Spmap2l	UTSW	5	77,164,250 (GRCm39)	small insertion	probably benign
RF055:Spmap2l	UTSW	5	77,164,250 (GRCm39)	small insertion	probably benign
RF060:Spmap2l	UTSW	5	77,164,274 (GRCm39)	small insertion	probably benign
RF063:Spmap2l	UTSW	5	77,164,273 (GRCm39)	small insertion	probably benign
RF064:Spmap2l	UTSW	5	77,164,262 (GRCm39)	small insertion	probably benign
Z1176:Spmap2l	UTSW	5	77,208,641 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGCCTTGAAATCCCAATGGG -3'
(R):5'- TTGGTAAAGACAAGATCACACACG -3'

Posted On

2017-07-14