Mutagenetix > Incidental Mutation

Incidental Mutation 'R9419:Serinc2'

712213

Institutional Source

Beutler Lab

Gene Symbol

Serinc2

Ensembl Gene

ENSMUSG00000023232

Gene Name

serine incorporator 2

Synonyms

Tde2l, 2310004K20Rik, FKSG84, TDE2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R9419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130147289-130172993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130149315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 296 (T296A)

Ref Sequence

ENSEMBL: ENSMUSP00000112535 (fasta)

Gene Model

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

AlphaFold

Q8K0E7

Predicted Effect

probably damaging
Transcript: ENSMUST00000105996
AA Change: T351A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101618
Gene: ENSMUSG00000023232
AA Change: T351A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120126
AA Change: T360A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113044
Gene: ENSMUSG00000023232
AA Change: T360A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000122374
AA Change: T296A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112535
Gene: ENSMUSG00000023232
AA Change: T296A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,682,685 (GRCm39)	T30A	unknown	Het
Abca12	A	G	1: 71,342,649 (GRCm39)	Y944H	possibly damaging	Het
Adgrv1	T	C	13: 81,656,887 (GRCm39)	N2869S	probably benign	Het
Ank1	C	A	8: 23,574,825 (GRCm39)	Q140K	probably damaging	Het
Aspm	T	A	1: 139,384,923 (GRCm39)	M189K	probably benign	Het
Atp2b1	G	T	10: 98,837,178 (GRCm39)	R539L	possibly damaging	Het
Camsap1	A	G	2: 25,845,304 (GRCm39)	S152P		Het
Catsperd	A	T	17: 56,958,821 (GRCm39)	I276L	probably benign	Het
Cbarp	A	G	10: 79,967,861 (GRCm39)	V460A	probably damaging	Het
Ccdc168	T	C	1: 44,096,935 (GRCm39)	I1388V	probably benign	Het
Cd40	A	T	2: 164,904,162 (GRCm39)		probably benign	Het
Cdk11b	A	T	4: 155,724,302 (GRCm39)	T307S	unknown	Het
Chfr	C	T	5: 110,317,056 (GRCm39)	T643I	probably damaging	Het
Cnbd1	T	C	4: 19,098,156 (GRCm39)	Q88R	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Ghdc	G	T	11: 100,661,081 (GRCm39)	A28D	probably damaging	Het
Gm5114	T	C	7: 39,057,540 (GRCm39)	H693R	possibly damaging	Het
H2-M1	G	T	17: 36,981,231 (GRCm39)	A268E	probably damaging	Het
Hsf5	A	G	11: 87,528,935 (GRCm39)	N557D	probably benign	Het
Ighg2c	A	G	12: 113,251,015 (GRCm39)		probably benign	Het
Il17ra	C	A	6: 120,458,255 (GRCm39)	Q469K	possibly damaging	Het
Ipo8	T	A	6: 148,686,064 (GRCm39)	N809Y	probably benign	Het
Klra10	T	A	6: 130,256,435 (GRCm39)	Q73L	probably damaging	Het
Lamb2	T	C	9: 108,356,959 (GRCm39)	V3A	unknown	Het
Map3k9	T	C	12: 81,827,341 (GRCm39)	Y103C	probably damaging	Het
Map4	T	C	9: 109,882,029 (GRCm39)	S298P	possibly damaging	Het
Mtus2	T	A	5: 148,243,451 (GRCm39)	N1254K	probably damaging	Het
Nap1l5	T	A	6: 58,883,952 (GRCm39)	M1L	probably benign	Het
Nfxl1	G	A	5: 72,716,641 (GRCm39)		probably benign	Het
Nmd3	T	C	3: 69,643,349 (GRCm39)	I227T	probably benign	Het
Or8c10	T	G	9: 38,279,162 (GRCm39)	C97G	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptchd3	G	A	11: 121,732,356 (GRCm39)	M415I	possibly damaging	Het
Rab28	A	T	5: 41,793,182 (GRCm39)	S154R	possibly damaging	Het
Rin1	A	G	19: 5,103,735 (GRCm39)	E567G	probably damaging	Het
Rrbp1	A	C	2: 143,811,436 (GRCm39)	V806G	probably benign	Het
Sec63	T	A	10: 42,679,901 (GRCm39)	L326Q	probably damaging	Het
Skint10	G	A	4: 112,572,981 (GRCm39)	L272F	probably damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Stag1	A	G	9: 100,811,967 (GRCm39)	Q815R	probably benign	Het
Stat3	A	G	11: 100,780,357 (GRCm39)	M735T	possibly damaging	Het
Stat3	A	G	11: 100,784,738 (GRCm39)	I576T	probably benign	Het
Styxl2	T	C	1: 165,927,755 (GRCm39)	Q619R	probably damaging	Het
Syne1	T	C	10: 5,155,071 (GRCm39)	K5623E	probably benign	Het
Tas1r2	T	C	4: 139,387,036 (GRCm39)	V165A	possibly damaging	Het
Tcaf3	A	T	6: 42,573,716 (GRCm39)	D165E	probably benign	Het
Tex2	G	A	11: 106,457,835 (GRCm39)	Q532*	probably null	Het
Utrn	T	C	10: 12,564,125 (GRCm39)	E1245G	probably damaging	Het

Other mutations in Serinc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Serinc2	APN	4	130,158,201 (GRCm39)	missense	possibly damaging	0.88
IGL02031:Serinc2	APN	4	130,158,237 (GRCm39)	nonsense	probably null
IGL02551:Serinc2	APN	4	130,154,567 (GRCm39)	missense	probably benign	0.01
R1455:Serinc2	UTSW	4	130,158,133 (GRCm39)	missense	probably damaging	0.96
R1520:Serinc2	UTSW	4	130,154,543 (GRCm39)	missense	probably benign	0.00
R2059:Serinc2	UTSW	4	130,154,578 (GRCm39)	missense	probably damaging	1.00
R2869:Serinc2	UTSW	4	130,159,005 (GRCm39)	missense	probably damaging	1.00
R2869:Serinc2	UTSW	4	130,159,005 (GRCm39)	missense	probably damaging	1.00
R3160:Serinc2	UTSW	4	130,154,528 (GRCm39)	missense	probably benign
R3162:Serinc2	UTSW	4	130,154,528 (GRCm39)	missense	probably benign
R4497:Serinc2	UTSW	4	130,147,847 (GRCm39)	missense	possibly damaging	0.67
R4735:Serinc2	UTSW	4	130,157,438 (GRCm39)	missense	probably benign	0.13
R4987:Serinc2	UTSW	4	130,156,820 (GRCm39)	splice site	probably null
R5569:Serinc2	UTSW	4	130,172,272 (GRCm39)	missense	probably benign	0.17
R5681:Serinc2	UTSW	4	130,158,869 (GRCm39)	missense	probably damaging	1.00
R5946:Serinc2	UTSW	4	130,149,314 (GRCm39)	missense	possibly damaging	0.91
R6556:Serinc2	UTSW	4	130,152,064 (GRCm39)	missense	probably damaging	1.00
R6898:Serinc2	UTSW	4	130,149,235 (GRCm39)	missense	probably benign	0.13
R7264:Serinc2	UTSW	4	130,152,052 (GRCm39)	missense	probably benign	0.00
R7526:Serinc2	UTSW	4	130,152,583 (GRCm39)	missense	probably benign	0.03
R7835:Serinc2	UTSW	4	130,169,280 (GRCm39)	missense	unknown
R8744:Serinc2	UTSW	4	130,158,988 (GRCm39)	start gained	probably benign
R8819:Serinc2	UTSW	4	130,149,172 (GRCm39)	missense	probably damaging	1.00
R8820:Serinc2	UTSW	4	130,149,172 (GRCm39)	missense	probably damaging	1.00
R9335:Serinc2	UTSW	4	130,158,220 (GRCm39)	missense	probably benign	0.01
R9542:Serinc2	UTSW	4	130,152,516 (GRCm39)	nonsense	probably null
R9688:Serinc2	UTSW	4	130,158,133 (GRCm39)	missense	probably damaging	0.96
Z1176:Serinc2	UTSW	4	130,147,788 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCATACCTGTACCAGTTGG -3'
(R):5'- AATCCAGGGTTCACAGAGGG -3'

Sequencing Primer
(F):5'- CCAGTTGGTAAGCGTCATCATGAC -3'
(R):5'- CACAGAGGGTGTATTTTACTCAGG -3'

Posted On

2022-05-16