Mutagenetix > Incidental Mutation

Incidental Mutation 'R0043:Spink12'

15831

Institutional Source

Beutler Lab

Gene Symbol

Spink12

Ensembl Gene

ENSMUSG00000061144

Gene Name

serine peptidase inhibitor, Kazal type 12

Synonyms

9230117E20Rik

MMRRC Submission

038337-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0043 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44237474-44241610 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44240763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 50 (C50R)

Ref Sequence

ENSEMBL: ENSMUSP00000080025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081271]

AlphaFold

Q9D256

Predicted Effect

probably damaging
Transcript: ENSMUST00000081271
AA Change: C50R

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

SMART Domains

Protein: ENSMUSP00000080025
Gene: ENSMUSG00000061144
AA Change: C50R

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
KAZAL	49	105	4.52e-12	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 81.2%
3x: 72.1%
10x: 49.9%
20x: 30.2%

Validation Efficiency

90% (56/62)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	A	G	2: 93,672,230 (GRCm39)	Y213H	probably benign	Het
Adcy9	A	G	16: 4,106,879 (GRCm39)	L982P	probably benign	Het
Cntnap2	T	A	6: 46,460,917 (GRCm39)	V651E	probably benign	Het
Cstf3	A	T	2: 104,475,430 (GRCm39)		probably benign	Het
Dnah1	T	C	14: 30,996,362 (GRCm39)	D2658G	probably damaging	Het
Dsg4	T	C	18: 20,586,029 (GRCm39)	S240P	probably damaging	Het
Dync2h1	C	T	9: 7,005,574 (GRCm39)	M3765I	probably benign	Het
Fbxw7	T	C	3: 84,879,874 (GRCm39)		probably benign	Het
Fhip2b	A	T	14: 70,826,101 (GRCm39)	S304T	probably benign	Het
Gata4	T	C	14: 63,440,750 (GRCm39)		probably benign	Het
Hyal1	T	C	9: 107,456,519 (GRCm39)	L152P	probably benign	Het
Ifi207	T	A	1: 173,556,678 (GRCm39)	T694S	possibly damaging	Het
Kalrn	C	A	16: 33,875,276 (GRCm39)	G99W	probably damaging	Het
Man1a2	A	T	3: 100,495,196 (GRCm39)	W448R	probably damaging	Het
Mfsd6	A	T	1: 52,747,811 (GRCm39)	Y351*	probably null	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mki67	T	C	7: 135,302,310 (GRCm39)	D908G	probably benign	Het
Nav3	A	G	10: 109,603,379 (GRCm39)	S1057P	possibly damaging	Het
Rasgef1b	T	C	5: 99,391,053 (GRCm39)	Y102C	probably damaging	Het
Sbf1	A	G	15: 89,179,764 (GRCm39)	V1281A	probably benign	Het
Sfmbt1	T	A	14: 30,538,764 (GRCm39)	S794R	probably damaging	Het
Skint3	T	A	4: 112,134,820 (GRCm39)	V331E	probably damaging	Het
Spata31e2	T	A	1: 26,722,883 (GRCm39)	I766F	possibly damaging	Het
Spata6	A	T	4: 111,638,002 (GRCm39)	R277S	probably damaging	Het
Trappc11	A	G	8: 47,958,610 (GRCm39)		probably benign	Het
Ube2u	G	T	4: 100,340,026 (GRCm39)	V66F	possibly damaging	Het
Usp42	A	C	5: 143,700,465 (GRCm39)	V1186G	probably benign	Het
Yme1l1	T	C	2: 23,077,815 (GRCm39)	I419T	probably damaging	Het

Other mutations in Spink12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Spink12	APN	18	44,240,872 (GRCm39)	missense	probably damaging	1.00
IGL00731:Spink12	APN	18	44,241,177 (GRCm39)	utr 3 prime	probably benign
IGL01694:Spink12	APN	18	44,240,827 (GRCm39)	missense	probably damaging	1.00
IGL02379:Spink12	APN	18	44,239,575 (GRCm39)	splice site	probably benign
IGL02702:Spink12	APN	18	44,237,836 (GRCm39)	missense	probably benign	0.00
R0001:Spink12	UTSW	18	44,240,763 (GRCm39)	missense	probably damaging	1.00
R0002:Spink12	UTSW	18	44,240,763 (GRCm39)	missense	probably damaging	1.00
R0043:Spink12	UTSW	18	44,240,763 (GRCm39)	missense	probably damaging	1.00
R0565:Spink12	UTSW	18	44,237,755 (GRCm39)	nonsense	probably null
R0639:Spink12	UTSW	18	44,240,831 (GRCm39)	nonsense	probably null
R1636:Spink12	UTSW	18	44,240,795 (GRCm39)	missense	probably benign	0.10
R4073:Spink12	UTSW	18	44,237,731 (GRCm39)	missense	possibly damaging	0.53
R5398:Spink12	UTSW	18	44,240,794 (GRCm39)	missense	possibly damaging	0.46
R7620:Spink12	UTSW	18	44,237,684 (GRCm39)	start gained	probably benign
Z1192:Spink12	UTSW	18	44,237,775 (GRCm39)	missense	probably benign

Posted On

2013-01-08