Mutagenetix > Incidental Mutation

Incidental Mutation 'R5829:S100a16'

450314

Institutional Source

Beutler Lab

Gene Symbol

S100a16

Ensembl Gene

ENSMUSG00000074457

Gene Name

S100 calcium binding protein A16

Synonyms

2300002L21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R5829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90444561-90450458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90449454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 43 (Q43L)

Ref Sequence

ENSEMBL: ENSMUSP00000102958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098910] [ENSMUST00000098911] [ENSMUST00000107331] [ENSMUST00000107333] [ENSMUST00000107334] [ENSMUST00000107335] [ENSMUST00000150833]

AlphaFold

Q9D708

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098910
AA Change: Q43L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096509
Gene: ENSMUSG00000074457
AA Change: Q43L

Domain	Start	End	E-Value	Type
Pfam:S_100	8	52	3.7e-7	PFAM
low complexity region	96	124	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098911
AA Change: Q43L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096510
Gene: ENSMUSG00000074457
AA Change: Q43L

Domain	Start	End	E-Value	Type
Pfam:S_100	8	52	3.7e-7	PFAM
low complexity region	96	124	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107331
AA Change: Q43L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102954
Gene: ENSMUSG00000074457
AA Change: Q43L

Domain	Start	End	E-Value	Type
Pfam:S_100	8	51	2.1e-12	PFAM
low complexity region	96	124	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107333
AA Change: Q43L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102956
Gene: ENSMUSG00000074457
AA Change: Q43L

Domain	Start	End	E-Value	Type
Pfam:S_100	8	52	3.7e-7	PFAM
low complexity region	96	124	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107334
AA Change: Q43L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102957
Gene: ENSMUSG00000074457
AA Change: Q43L

Domain	Start	End	E-Value	Type
Pfam:S_100	8	52	3.7e-7	PFAM
low complexity region	96	124	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107335
AA Change: Q43L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102958
Gene: ENSMUSG00000074457
AA Change: Q43L

Domain	Start	End	E-Value	Type
Pfam:S_100	8	52	3.7e-7	PFAM
low complexity region	96	124	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127008

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150833
AA Change: Q43L

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119168
Gene: ENSMUSG00000074457
AA Change: Q43L

Domain	Start	End	E-Value	Type
Pfam:S_100	8	52	1.3e-7	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Atp6v1e2	T	C	17: 87,252,144 (GRCm39)	R85G	probably benign	Het
Bmpr1b	T	C	3: 141,550,918 (GRCm39)	H391R	probably benign	Het
Camsap3	A	G	8: 3,647,899 (GRCm39)	H69R	probably damaging	Het
Cimip2a	G	A	2: 25,108,869 (GRCm39)		probably null	Het
Col12a1	C	T	9: 79,540,955 (GRCm39)	G2391R	probably damaging	Het
Dab2ip	ATCCT	ATCCTCCT	2: 35,597,787 (GRCm39)		probably benign	Het
Epha4	G	A	1: 77,421,631 (GRCm39)	L284F	probably benign	Het
Fat4	T	C	3: 39,061,454 (GRCm39)	S4346P	probably damaging	Het
Fbxo22	T	A	9: 55,125,596 (GRCm39)		probably null	Het
Gcc1	C	A	6: 28,419,690 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,674 (GRCm39)	S394P	probably damaging	Het
Gdf9	C	T	11: 53,324,516 (GRCm39)	T95M	probably benign	Het
Gpr179	G	A	11: 97,226,524 (GRCm39)	S1877L	probably benign	Het
Gtf2i	A	G	5: 134,292,547 (GRCm39)	V380A	probably damaging	Het
Il17c	G	A	8: 123,148,970 (GRCm39)	R38Q	probably damaging	Het
Il17rd	G	A	14: 26,814,042 (GRCm39)		probably null	Het
Iqch	C	T	9: 63,332,639 (GRCm39)		probably null	Het
Lrrc37	C	T	11: 103,432,712 (GRCm39)	E1310K	possibly damaging	Het
Mpp4	A	T	1: 59,168,101 (GRCm39)	S456R	probably damaging	Het
Nek10	T	C	14: 14,865,404 (GRCm38)	Y601H	probably damaging	Het
Nrxn2	C	T	19: 6,540,879 (GRCm39)	P936L	probably benign	Het
Or8b44	T	A	9: 38,410,545 (GRCm39)	Y193*	probably null	Het
Pcdhb9	T	C	18: 37,534,942 (GRCm39)	V312A	probably damaging	Het
Pex5l	T	C	3: 33,060,139 (GRCm39)	T211A	probably benign	Het
Pik3c2a	T	C	7: 115,972,049 (GRCm39)	T794A	probably benign	Het
Pla2g6	A	G	15: 79,171,893 (GRCm39)	F710L	possibly damaging	Het
Repin1	A	T	6: 48,571,766 (GRCm39)		probably benign	Het
Rev3l	A	T	10: 39,682,902 (GRCm39)	E340V	probably damaging	Het
Ryr3	A	G	2: 112,690,076 (GRCm39)	S1158P	probably damaging	Het
Scg2	A	G	1: 79,414,637 (GRCm39)	S29P	probably damaging	Het
Sfrp5	T	C	19: 42,190,095 (GRCm39)	Y119C	probably damaging	Het
Sh3tc2	A	G	18: 62,123,986 (GRCm39)	T916A	probably benign	Het
Smpd3	A	G	8: 106,991,512 (GRCm39)	V347A	probably benign	Het
Tmem212	C	A	3: 27,939,081 (GRCm39)	C135F	possibly damaging	Het
Unc13c	T	A	9: 73,600,650 (GRCm39)	N1365Y	probably benign	Het
Usp13	G	T	3: 32,940,672 (GRCm39)	G395C	possibly damaging	Het
Vmn2r68	T	C	7: 84,886,812 (GRCm39)	N34S	probably benign	Het

Other mutations in S100a16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0036:S100a16	UTSW	3	90,449,763 (GRCm39)	missense	probably benign	0.00
R1429:S100a16	UTSW	3	90,449,391 (GRCm39)	missense	probably damaging	1.00
R1921:S100a16	UTSW	3	90,449,703 (GRCm39)	missense	probably damaging	1.00
R4110:S100a16	UTSW	3	90,449,379 (GRCm39)	missense	probably damaging	0.99
R6109:S100a16	UTSW	3	90,449,381 (GRCm39)	missense	probably damaging	1.00
R6168:S100a16	UTSW	3	90,449,879 (GRCm39)	nonsense	probably null
R6495:S100a16	UTSW	3	90,449,735 (GRCm39)	missense	probably benign	0.00
R8295:S100a16	UTSW	3	90,449,336 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAAGAAGTCTGAGGATGCTGTC -3'
(R):5'- CAGTAAAGCTTGGGATGGCC -3'

Sequencing Primer
(F):5'- CTGTGTGCAGGGATGTCC -3'
(R):5'- ATGGCCCAGACAGGACC -3'

Posted On

2016-12-20