Mutagenetix > Incidental Mutation

Incidental Mutation 'R5681:Serinc2'

443022

Institutional Source

Beutler Lab

Gene Symbol

Serinc2

Ensembl Gene

ENSMUSG00000023232

Gene Name

serine incorporator 2

Synonyms

FKSG84, 2310004K20Rik, TDE2, Tde2l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5681 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

130253495-130279205 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 130265076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 10 (L10R)

Ref Sequence

ENSEMBL: ENSMUSP00000116586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105996] [ENSMUST00000120126] [ENSMUST00000122374] [ENSMUST00000146478] [ENSMUST00000154846]

AlphaFold

Q8K0E7

Predicted Effect

probably damaging
Transcript: ENSMUST00000105996
AA Change: L65R

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

SMART Domains

Protein: ENSMUSP00000101618
Gene: ENSMUSG00000023232
AA Change: L65R

Domain	Start	End	E-Value	Type
Pfam:Serinc	15	449	4.1e-162	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120126
AA Change: L74R

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

SMART Domains

Protein: ENSMUSP00000113044
Gene: ENSMUSG00000023232
AA Change: L74R

Domain	Start	End	E-Value	Type
Pfam:Serinc	25	457	1.4e-158	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122374
AA Change: L10R

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

SMART Domains

Protein: ENSMUSP00000112535
Gene: ENSMUSG00000023232
AA Change: L10R

Domain	Start	End	E-Value	Type
Pfam:Serinc	1	394	2.9e-148	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146478
AA Change: L10R

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

SMART Domains

Protein: ENSMUSP00000115198
Gene: ENSMUSG00000023232
AA Change: L10R

Domain	Start	End	E-Value	Type
Pfam:Serinc	1	148	1.9e-56	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154846
AA Change: L10R

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

SMART Domains

Protein: ENSMUSP00000116586
Gene: ENSMUSG00000023232
AA Change: L10R

Domain	Start	End	E-Value	Type
Pfam:Serinc	1	82	3.3e-26	PFAM

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	A	5: 9,459,308		probably null	Het
Acoxl	T	C	2: 127,972,639	F45S	possibly damaging	Het
Adora2b	T	A	11: 62,249,241	V47E	probably damaging	Het
Amdhd2	A	G	17: 24,156,040	I396T	probably damaging	Het
Arhgap5	G	A	12: 52,519,779	D1178N	probably benign	Het
Atp10d	T	C	5: 72,246,946		probably benign	Het
Baiap3	A	G	17: 25,249,373	S264P	probably damaging	Het
BC055324	T	C	1: 163,962,085	N627S	probably damaging	Het
Brinp3	A	T	1: 146,901,746	I644F	probably benign	Het
Ccdc66	T	C	14: 27,486,741	R675G	probably benign	Het
Cnr2	T	G	4: 135,916,689	M26R	probably damaging	Het
Col6a2	A	T	10: 76,609,251		probably null	Het
Cux1	A	G	5: 136,308,184	W696R	probably damaging	Het
D6Ertd527e	A	G	6: 87,111,206	N117S	unknown	Het
Dnah12	T	C	14: 26,815,495	C2234R	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Dock2	T	G	11: 34,249,836	I1405L	probably benign	Het
Dsg1c	T	C	18: 20,283,213	F724L	probably damaging	Het
Enoph1	T	C	5: 100,062,277		probably null	Het
Epha10	A	T	4: 124,902,566	Q356L	unknown	Het
Fbln2	G	T	6: 91,271,796	V1148L	probably damaging	Het
Gm11397	G	A	13: 33,395,829	C20Y	probably damaging	Het
Gm8251	A	T	1: 44,061,464	V158D	possibly damaging	Het
Gp2	C	T	7: 119,452,294	V233M	possibly damaging	Het
Gtf2ird1	T	A	5: 134,363,318	S800C	probably damaging	Het
Hat1	A	G	2: 71,434,209		probably null	Het
Hpdl	A	T	4: 116,820,842	S141T	probably benign	Het
Klhl29	A	G	12: 5,090,669	S658P	possibly damaging	Het
Lifr	T	A	15: 7,191,084	I1065N	probably damaging	Het
Lrrn2	G	T	1: 132,937,161		probably benign	Het
March9	T	A	10: 127,058,303	I144F	probably benign	Het
Mtnr1a	A	G	8: 45,087,937	I312V	possibly damaging	Het
Ngf	T	A	3: 102,520,353	F139L	probably damaging	Het
Nipbl	T	C	15: 8,301,382	I2318V	probably benign	Het
Nkpd1	C	T	7: 19,523,573	Q276*	probably null	Het
Nphs1	A	G	7: 30,486,625	D1227G	probably benign	Het
Olfm3	C	A	3: 115,122,275	N285K	probably benign	Het
Olfr1313	T	A	2: 112,072,377	I69F	probably benign	Het
Olfr3	C	A	2: 36,812,681	S137I	probably benign	Het
Olfr855	G	A	9: 19,584,899	D121N	probably damaging	Het
Olfr870	A	G	9: 20,170,795	Y259H	probably damaging	Het
Olfr887	C	T	9: 38,085,631	S265F	possibly damaging	Het
Osbp2	A	G	11: 3,863,486	S128P	probably benign	Het
Otop2	A	T	11: 115,326,859	M174L	probably damaging	Het
Pard3	A	G	8: 127,389,433	T668A	possibly damaging	Het
Pkhd1	T	C	1: 20,547,461	T967A	possibly damaging	Het
Pls1	A	G	9: 95,787,012	V52A	probably damaging	Het
Ptcd3	T	C	6: 71,907,659	K64R	probably damaging	Het
Pxn	T	C	5: 115,544,534	W69R	possibly damaging	Het
Rai14	T	C	15: 10,575,120	D584G	probably damaging	Het
Safb	G	A	17: 56,599,000		probably benign	Het
Serpinb12	A	T	1: 106,946,701	H52L	probably benign	Het
Serpinf2	A	G	11: 75,435,939	Y273H	probably damaging	Het
Slc2a10	T	A	2: 165,514,740	S107T	probably benign	Het
Slc41a3	T	C	6: 90,640,946	L318P	probably damaging	Het
Slc6a3	A	T	13: 73,538,735	I74F	probably damaging	Het
Snrnp200	G	A	2: 127,225,135	G788D	probably damaging	Het
Snx7	A	G	3: 117,846,623	I79T	probably benign	Het
Sox11	G	T	12: 27,341,824	D195E	probably benign	Het
Ssc4d	A	G	5: 135,970,220	L43P	probably damaging	Het
Tab2	A	G	10: 7,920,073	I215T	probably damaging	Het
Ttn	C	T	2: 76,830,598	V7422I	possibly damaging	Het
Unc13c	A	T	9: 73,546,075		probably null	Het
Wdr17	T	C	8: 54,662,869	D633G	probably damaging	Het
Wdsub1	A	T	2: 59,852,895	M445K	probably damaging	Het
Xpc	A	G	6: 91,504,120	F257L	probably damaging	Het

Other mutations in Serinc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Serinc2	APN	4	130264408	missense	possibly damaging	0.88
IGL02031:Serinc2	APN	4	130264444	nonsense	probably null
IGL02551:Serinc2	APN	4	130260774	missense	probably benign	0.01
R1455:Serinc2	UTSW	4	130264340	missense	probably damaging	0.96
R1520:Serinc2	UTSW	4	130260750	missense	probably benign	0.00
R2059:Serinc2	UTSW	4	130260785	missense	probably damaging	1.00
R2869:Serinc2	UTSW	4	130265212	missense	probably damaging	1.00
R2869:Serinc2	UTSW	4	130265212	missense	probably damaging	1.00
R3160:Serinc2	UTSW	4	130260735	missense	probably benign
R3162:Serinc2	UTSW	4	130260735	missense	probably benign
R4497:Serinc2	UTSW	4	130254054	missense	possibly damaging	0.67
R4735:Serinc2	UTSW	4	130263645	missense	probably benign	0.13
R4987:Serinc2	UTSW	4	130263027	splice site	probably null
R5569:Serinc2	UTSW	4	130278479	missense	probably benign	0.17
R5946:Serinc2	UTSW	4	130255521	missense	possibly damaging	0.91
R6556:Serinc2	UTSW	4	130258271	missense	probably damaging	1.00
R6898:Serinc2	UTSW	4	130255442	missense	probably benign	0.13
R7264:Serinc2	UTSW	4	130258259	missense	probably benign	0.00
R7526:Serinc2	UTSW	4	130258790	missense	probably benign	0.03
R7835:Serinc2	UTSW	4	130275487	missense	unknown
R8744:Serinc2	UTSW	4	130265195	start gained	probably benign
R8819:Serinc2	UTSW	4	130255379	missense	probably damaging	1.00
R8820:Serinc2	UTSW	4	130255379	missense	probably damaging	1.00
R9335:Serinc2	UTSW	4	130264427	missense	probably benign	0.01
R9419:Serinc2	UTSW	4	130255522	missense	probably damaging	0.99
R9542:Serinc2	UTSW	4	130258723	nonsense	probably null
R9688:Serinc2	UTSW	4	130264340	missense	probably damaging	0.96
Z1176:Serinc2	UTSW	4	130253995	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGCCAAGACAAGAGTCC -3'
(R):5'- GGACTAAAGAAGCTACCGTCC -3'

Sequencing Primer
(F):5'- GACAAGAGTCCCACCCTGG -3'
(R):5'- AGAAGCTACCGTCCCTGTC -3'

Posted On

2016-11-09