Mutagenetix > Incidental Mutation

Incidental Mutation 'R3966:Spink10'

312375

Institutional Source

Beutler Lab

Gene Symbol

Spink10

Ensembl Gene

ENSMUSG00000044176

Gene Name

serine peptidase inhibitor, Kazal type 10

Synonyms

A230091H23Rik

MMRRC Submission

040935-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62681982-62797412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62790975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 87 (I87T)

Ref Sequence

ENSEMBL: ENSMUSP00000062976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055725] [ENSMUST00000097557] [ENSMUST00000162365] [ENSMUST00000162511] [ENSMUST00000163259]

AlphaFold

Q8CAC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000055725
AA Change: I87T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062976
Gene: ENSMUSG00000044176
AA Change: I87T

Domain	Start	End	E-Value	Type
KAZAL	34	78	2.85e-2	SMART
transmembrane domain	80	102	N/A	INTRINSIC
KAZAL	111	162	2.61e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097557

SMART Domains

Protein: ENSMUSP00000095165
Gene: ENSMUSG00000073551

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
KAZAL	50	96	9.26e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161674

Predicted Effect

probably benign
Transcript: ENSMUST00000162365
AA Change: I87T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125171
Gene: ENSMUSG00000044176
AA Change: I87T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
KAZAL	34	78	2.85e-2	SMART
transmembrane domain	80	102	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162511
AA Change: I13T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125330
Gene: ENSMUSG00000044176
AA Change: I13T

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
KAZAL	37	88	2.61e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163259

SMART Domains

Protein: ENSMUSP00000128279
Gene: ENSMUSG00000091744

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	C	1: 89,762,183 (GRCm39)	I371T	probably damaging	Het
Brwd1	G	A	16: 95,845,730 (GRCm39)	T731I	probably damaging	Het
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
C3	A	G	17: 57,525,664 (GRCm39)	V864A	probably damaging	Het
Cadps	A	T	14: 12,522,161 (GRCm38)		probably null	Het
Cemip	T	A	7: 83,600,717 (GRCm39)	Y968F	probably benign	Het
Ces1g	C	A	8: 94,055,139 (GRCm39)	R186L	possibly damaging	Het
Chd2	A	G	7: 73,114,143 (GRCm39)		probably benign	Het
Clptm1l	T	C	13: 73,764,091 (GRCm39)	Y404H	probably damaging	Het
CN725425	T	A	15: 91,126,890 (GRCm39)		probably null	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Cyp1a1	T	A	9: 57,607,432 (GRCm39)	V20D	probably benign	Het
E330034G19Rik	G	T	14: 24,356,939 (GRCm39)	M158I	unknown	Het
Ehbp1l1	C	T	19: 5,760,601 (GRCm39)		probably null	Het
Gm14137	T	A	2: 119,005,497 (GRCm39)	S19T	probably benign	Het
Gpr141b	A	G	13: 19,913,614 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Inhbb	C	A	1: 119,345,291 (GRCm39)	G333W	probably damaging	Het
Kcnb1	C	T	2: 166,946,412 (GRCm39)	C812Y	probably damaging	Het
Kdm4c	A	G	4: 74,216,820 (GRCm39)	D193G	probably damaging	Het
Mbd5	A	T	2: 49,162,082 (GRCm39)	I855L	possibly damaging	Het
Mcpt1	G	A	14: 56,256,503 (GRCm39)	V80M	probably benign	Het
Med31	C	T	11: 72,102,755 (GRCm39)	A118T	probably benign	Het
Megf10	A	G	18: 57,313,646 (GRCm39)	D30G	probably damaging	Het
Ms4a6b	T	C	19: 11,499,098 (GRCm39)	S71P	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Mycbp2	A	G	14: 103,376,161 (GRCm39)		probably benign	Het
Myrf	T	C	19: 10,196,979 (GRCm39)	E267G	probably benign	Het
Ncor1	T	C	11: 62,235,583 (GRCm39)	T624A	probably damaging	Het
Nfat5	G	T	8: 108,093,921 (GRCm39)	A721S	possibly damaging	Het
Nfatc2	C	T	2: 168,346,469 (GRCm39)	S875N	probably benign	Het
Npm1	C	T	11: 33,110,350 (GRCm39)	G148D	probably benign	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Nucb2	A	G	7: 116,128,110 (GRCm39)	E273G	probably damaging	Het
Prkd1	C	T	12: 50,439,724 (GRCm39)	E368K	probably benign	Het
Ptgs2	T	A	1: 149,981,226 (GRCm39)	I503N	probably damaging	Het
Qrfpr	A	G	3: 36,235,149 (GRCm39)	S243P	possibly damaging	Het
Safb2	T	C	17: 56,882,356 (GRCm39)	S426G	probably null	Het
Sos1	C	T	17: 80,762,608 (GRCm39)	R73H	probably damaging	Het
Tet2	A	G	3: 133,193,418 (GRCm39)	S339P	possibly damaging	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tmx4	T	C	2: 134,441,981 (GRCm39)	I206V	possibly damaging	Het
Tom1	A	G	8: 75,785,867 (GRCm39)	K360E	probably benign	Het
Trp73	A	G	4: 154,146,493 (GRCm39)	V422A	probably benign	Het
Vmn2r33	T	C	7: 7,557,168 (GRCm39)	M511V	probably benign	Het
Zfp628	T	C	7: 4,924,744 (GRCm39)	S989P	probably benign	Het

Other mutations in Spink10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01730:Spink10	APN	18	62,784,816 (GRCm39)	splice site	probably null
R0491:Spink10	UTSW	18	62,793,036 (GRCm39)	missense	probably damaging	1.00
R3804:Spink10	UTSW	18	62,786,485 (GRCm39)	unclassified	probably benign
R5991:Spink10	UTSW	18	62,790,956 (GRCm39)	missense	probably null	1.00
R8770:Spink10	UTSW	18	62,786,532 (GRCm39)	missense	probably benign	0.03
R9566:Spink10	UTSW	18	62,790,939 (GRCm39)	missense	probably benign	0.03
X0063:Spink10	UTSW	18	62,791,003 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGAAGTCTCCAGGAGGATTCG -3'
(R):5'- TGTAAAAGCGAGTCGTTGGG -3'

Sequencing Primer
(F):5'- AGGATTCGGGACCTCTGTC -3'
(R):5'- AAGCGAGTCGTTGGGGTAAGTTC -3'

Posted On

2015-04-29