Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:Spmap2l'

436509

Institutional Source

Beutler Lab

Gene Symbol

Spmap2l

Ensembl Gene

ENSMUSG00000029248

Gene Name

sperm microtubule associated protein 2 like

Synonyms

1700023E05Rik, Thegl

MMRRC Submission

043117-MU

Accession Numbers

Essential gene?

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

Stock #

R5560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77163879-77209382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77164333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 112 (D112G)

Ref Sequence

ENSEMBL: ENSMUSP00000112814 (fasta)

Gene Model

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

AlphaFold

Q9DA15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031161
AA Change: D112G

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031161
Gene: ENSMUSG00000029248
AA Change: D112G

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

possibly damaging
Transcript: ENSMUST00000117880
AA Change: D112G

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112814
Gene: ENSMUSG00000029248
AA Change: D112G

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

noncoding transcript
Transcript: ENSMUST00000129353

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adipor1	T	C	1: 134,353,778 (GRCm39)	W188R	possibly damaging	Het
Agrn	T	C	4: 156,262,954 (GRCm39)	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,520,024 (GRCm39)	S570P	probably benign	Het
Ano9	C	G	7: 140,690,395 (GRCm39)	G80R	probably damaging	Het
Arhgef2	T	A	3: 88,541,744 (GRCm39)	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,751,319 (GRCm39)	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,220,224 (GRCm39)	D40E	possibly damaging	Het
Capn12	A	G	7: 28,582,285 (GRCm39)	D133G	probably benign	Het
Ccna1	A	T	3: 54,955,990 (GRCm39)	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,632,239 (GRCm39)	Y250N	probably damaging	Het
Cep112	A	C	11: 108,328,061 (GRCm39)	K98Q	probably damaging	Het
Chst13	T	C	6: 90,295,251 (GRCm39)	D54G	probably damaging	Het
Clstn2	G	T	9: 97,351,872 (GRCm39)	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,073,261 (GRCm39)	L581M	probably damaging	Het
Cog3	T	A	14: 75,966,833 (GRCm39)	M446L	probably damaging	Het
Dennd2c	T	A	3: 103,068,871 (GRCm39)	I756K	probably damaging	Het
Dennd3	T	G	15: 73,404,744 (GRCm39)	L273R	probably damaging	Het
Dhx34	C	A	7: 15,952,466 (GRCm39)	R53L	probably benign	Het
Dnah9	G	A	11: 65,772,566 (GRCm39)	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dusp6	A	G	10: 99,102,103 (GRCm39)	Y217C	probably damaging	Het
Dync2i1	T	C	12: 116,181,733 (GRCm39)	S769G	probably damaging	Het
Dyrk1b	G	A	7: 27,883,678 (GRCm39)	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,505,645 (GRCm39)	C1009S	probably benign	Het
Frmpd1	A	T	4: 45,243,697 (GRCm39)	T57S	probably damaging	Het
Gask1a	T	C	9: 121,807,289 (GRCm39)	F478L	possibly damaging	Het
Gjc2	A	G	11: 59,068,185 (GRCm39)	V99A	possibly damaging	Het
Gm9955	A	T	18: 24,842,149 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,831,101 (GRCm39)	I734V	possibly damaging	Het
H1f2	A	G	13: 23,923,390 (GRCm39)	S187G	probably benign	Het
Herc1	A	T	9: 66,358,401 (GRCm39)	H2494L	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmgcs1	A	G	13: 120,161,351 (GRCm39)		probably null	Het
Invs	A	T	4: 48,416,084 (GRCm39)	T655S	probably benign	Het
Ipo9	G	A	1: 135,329,983 (GRCm39)	L486F	probably damaging	Het
Katnip	T	C	7: 125,453,733 (GRCm39)	V1150A	probably benign	Het
Kcnj6	A	T	16: 94,633,824 (GRCm39)	L96M	probably benign	Het
Lfng	A	G	5: 140,600,022 (GRCm39)	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,235,953 (GRCm39)	L139P	probably damaging	Het
Madd	C	A	2: 90,993,890 (GRCm39)	V923L	probably damaging	Het
Mical1	A	T	10: 41,354,961 (GRCm39)	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,199,590 (GRCm39)	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,023,105 (GRCm39)	K6R	probably benign	Het
Mug1	T	A	6: 121,838,032 (GRCm39)	C421S	probably damaging	Het
Myo18b	A	G	5: 113,016,161 (GRCm39)	I696T	probably damaging	Het
Naf1	T	C	8: 67,336,197 (GRCm39)	Y375H	probably damaging	Het
Nsf	T	A	11: 103,754,081 (GRCm39)	E485V	possibly damaging	Het
Nup188	A	G	2: 30,199,897 (GRCm39)	D307G	probably damaging	Het
Ocel1	C	A	8: 71,825,122 (GRCm39)	P108T	probably damaging	Het
Oip5	A	G	2: 119,443,540 (GRCm39)	S177P	probably damaging	Het
Omg	A	G	11: 79,392,584 (GRCm39)	W425R	possibly damaging	Het
Or1ad8	A	C	11: 50,898,350 (GRCm39)	I184L	possibly damaging	Het
Or1l4	A	G	2: 37,091,942 (GRCm39)	I230V	probably benign	Het
Or5an10	G	A	19: 12,276,008 (GRCm39)	Q163*	probably null	Het
Or8g26	A	C	9: 39,095,480 (GRCm39)	E2A	probably benign	Het
Pikfyve	A	G	1: 65,292,566 (GRCm39)	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,522,172 (GRCm39)	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,528,480 (GRCm39)	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,483,070 (GRCm39)	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,438,486 (GRCm39)	P91S	probably damaging	Het
Rnf10	A	G	5: 115,388,057 (GRCm39)	F367S	probably damaging	Het
Rnft1	A	T	11: 86,384,022 (GRCm39)	R307S	probably benign	Het
Ryr3	A	T	2: 112,585,222 (GRCm39)	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,426,137 (GRCm39)	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,389,352 (GRCm39)	A123E	probably damaging	Het
Setd2	T	A	9: 110,378,907 (GRCm39)	Y623*	probably null	Het
Slc49a3	A	T	5: 108,596,729 (GRCm39)	M1K	probably null	Het
Tbl2	C	T	5: 135,186,445 (GRCm39)	Q216*	probably null	Het
Tnc	A	G	4: 63,926,946 (GRCm39)	I860T	probably damaging	Het
Trafd1	T	C	5: 121,511,366 (GRCm39)	K484R	possibly damaging	Het
Trank1	T	C	9: 111,219,635 (GRCm39)	V2124A	probably damaging	Het
Trpm4	A	T	7: 44,959,756 (GRCm39)	W713R	probably damaging	Het
Uap1l1	T	C	2: 25,252,688 (GRCm39)	T451A	probably benign	Het
Uba6	A	T	5: 86,279,119 (GRCm39)	C668S	probably damaging	Het
Ubxn11	T	C	4: 133,853,935 (GRCm39)	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,877,723 (GRCm39)	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,401,150 (GRCm39)	I90L	probably damaging	Het
Zfp330	T	C	8: 83,491,585 (GRCm39)	E196G	probably benign	Het
Zfp746	A	G	6: 48,059,108 (GRCm39)	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,420,694 (GRCm39)	E85G	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCAGGTTCATCCGTGCGATC -3'
(R):5'- AATGGCTGGATTCAACGGGG -3'

Sequencing Primer
(F):5'- CTCCTGGAGGTGCAGAATG -3'
(R):5'- GGTCAGGGCTAAACCTACCTCTC -3'

Posted On

2016-10-24