Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00582:Spmap2l'

6421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spmap2l

Ensembl Gene

ENSMUSG00000029248

Gene Name

sperm microtubule associated protein 2 like

Synonyms

1700023E05Rik, Thegl

Accession Numbers

Essential gene?

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

Stock #

IGL00582

Quality Score

Status

Chromosome

Chromosomal Location

77163879-77209382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77208678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 402 (Y402F)

Ref Sequence

ENSEMBL: ENSMUSP00000112814 (fasta)

Gene Model

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

AlphaFold

Q9DA15

Predicted Effect

probably damaging
Transcript: ENSMUST00000031161
AA Change: Y402F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: Y402F

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 damaging
Transcript: ENSMUST00000117880
AA Change: Y402F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: Y402F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	C	A	9: 70,674,177 (GRCm39)	T513K	possibly damaging	Het
Capn1	C	A	19: 6,057,299 (GRCm39)	G383V	probably damaging	Het
Csf1	A	G	3: 107,664,043 (GRCm39)	S42P	probably benign	Het
Hipk2	A	G	6: 38,796,257 (GRCm39)		probably benign	Het
Knl1	A	T	2: 118,932,980 (GRCm39)	E2046D	probably benign	Het
Lamc3	T	C	2: 31,790,593 (GRCm39)	V271A	probably damaging	Het
Pik3c2a	G	T	7: 115,975,518 (GRCm39)	T683K	possibly damaging	Het
Ranbp17	G	A	11: 33,454,683 (GRCm39)	T55I	probably damaging	Het
Sema3d	C	T	5: 12,635,162 (GRCm39)	R743C	probably damaging	Het
Setbp1	G	A	18: 78,798,894 (GRCm39)	Q1429*	probably null	Het
Sirt7	A	G	11: 120,509,735 (GRCm39)	I383T	probably benign	Het
Sis	T	C	3: 72,853,969 (GRCm39)	I503V	probably benign	Het
Usp17le	T	C	7: 104,417,994 (GRCm39)	T383A	probably benign	Het
Zfp248	A	T	6: 118,406,693 (GRCm39)	Y299N	probably damaging	Het
Zfp420	T	C	7: 29,574,518 (GRCm39)	I246T	probably damaging	Het

Other mutations in Spmap2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6086:Spmap2l	UTSW	5	77,209,152 (GRCm39)	missense	probably benign	0.11
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

Posted On

2012-04-20