Mutagenetix > Incidental Mutation

Incidental Mutation 'R4073:Spink12'

316424

Institutional Source

Beutler Lab

Gene Symbol

Spink12

Ensembl Gene

ENSMUSG00000061144

Gene Name

serine peptidase inhibitor, Kazal type 12

Synonyms

9230117E20Rik

MMRRC Submission

041621-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4073 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44237474-44241610 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44237731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 3 (N3S)

Ref Sequence

ENSEMBL: ENSMUSP00000080025 (fasta)

Gene Model

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

AlphaFold

Q9D256

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081271
AA Change: N3S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080025
Gene: ENSMUSG00000061144
AA Change: N3S

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (67/70)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415M13Rik	C	T	17: 54,031,494 (GRCm39)		noncoding transcript	Het
Alox12	T	C	11: 70,138,136 (GRCm39)	N400D	probably damaging	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Cbs	C	T	17: 31,851,979 (GRCm39)	C8Y	possibly damaging	Het
Ccdc103	C	T	11: 102,774,925 (GRCm39)	R175W	probably damaging	Het
Clasp1	T	C	1: 118,431,578 (GRCm39)	F171L	probably damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Cytl1	A	G	5: 37,892,940 (GRCm39)	I17V	unknown	Het
Dnah11	A	G	12: 118,009,413 (GRCm39)	M2083T	probably benign	Het
Dock7	A	T	4: 98,896,296 (GRCm39)	S768R	probably benign	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Ehhadh	T	C	16: 21,585,257 (GRCm39)	D208G	probably benign	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Erbin	T	C	13: 103,996,619 (GRCm39)	E211G	probably damaging	Het
Ercc4	G	A	16: 12,948,549 (GRCm39)	V499I	probably damaging	Het
Gpd2	A	G	2: 57,180,025 (GRCm39)	R91G	probably damaging	Het
Herc1	A	G	9: 66,325,774 (GRCm39)	D1416G	probably benign	Het
Ighv1-30	C	T	12: 114,781,021 (GRCm39)		noncoding transcript	Het
Il23r	A	G	6: 67,463,106 (GRCm39)	I129T	probably damaging	Het
Jph4	T	C	14: 55,352,497 (GRCm39)	S79G	probably benign	Het
Lamp3	A	G	16: 19,519,466 (GRCm39)	L239P	possibly damaging	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Lrrc71	G	A	3: 87,652,569 (GRCm39)	T185I	probably benign	Het
Mroh1	A	G	15: 76,292,185 (GRCm39)	D219G	probably benign	Het
Mtor	T	A	4: 148,633,832 (GRCm39)	S2342T	probably damaging	Het
Nf2	T	C	11: 4,798,958 (GRCm39)	S10G	probably benign	Het
Nlrp4c	A	G	7: 6,075,709 (GRCm39)	K667E	probably benign	Het
Nrm	T	A	17: 36,172,424 (GRCm39)		probably benign	Het
Nsd1	T	A	13: 55,395,541 (GRCm39)	H1047Q	probably benign	Het
Obox3	G	T	7: 15,359,724 (GRCm39)	T315N	possibly damaging	Het
Or2t47	T	C	11: 58,442,888 (GRCm39)	Y59C	probably damaging	Het
Or4k5	A	G	14: 50,385,500 (GRCm39)	V277A	possibly damaging	Het
Or4x13	T	C	2: 90,231,337 (GRCm39)	F111L	probably benign	Het
Or5b3	G	A	19: 13,388,299 (GRCm39)	R122H	possibly damaging	Het
Or6aa1	T	A	7: 86,044,155 (GRCm39)	I184F	probably damaging	Het
Or8b38	T	C	9: 37,973,165 (GRCm39)	L183P	probably damaging	Het
Pbx3	T	C	2: 34,114,424 (GRCm39)	Y112C	probably damaging	Het
Pde11a	C	T	2: 76,168,242 (GRCm39)	R237H	probably damaging	Het
Phactr1	ACTT	A	13: 43,213,245 (GRCm39)		probably benign	Het
Pidd1	A	G	7: 141,020,739 (GRCm39)	F453L	probably damaging	Het
Ptgs1	C	T	2: 36,127,788 (GRCm39)	R116C	probably damaging	Het
Rab39b	T	C	X: 74,618,658 (GRCm39)		probably benign	Het
Rpp25	T	C	9: 57,411,592 (GRCm39)	S25P	probably benign	Het
Rrbp1	T	G	2: 143,805,030 (GRCm39)	Q1045P	probably benign	Het
Sbk3	G	T	7: 4,973,501 (GRCm39)	A41D	probably damaging	Het
Slc24a3	T	A	2: 145,455,636 (GRCm39)		probably benign	Het
Slc28a3	T	C	13: 58,707,104 (GRCm39)	I565V	probably benign	Het
Slc35a3	T	C	3: 116,468,887 (GRCm39)	T275A	probably benign	Het
Srp72	C	A	5: 77,146,098 (GRCm39)	T633K	probably benign	Het
Tab3	G	T	X: 84,658,063 (GRCm39)	V197F	probably damaging	Het
Taf2	A	G	15: 54,915,633 (GRCm39)	L431P	probably damaging	Het
Tas2r131	A	T	6: 132,934,802 (GRCm39)	Y2*	probably null	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Trpv1	T	C	11: 73,141,606 (GRCm39)	V175A	probably damaging	Het
Usp21	T	C	1: 171,109,746 (GRCm39)		probably benign	Het
Vmn1r25	A	G	6: 57,955,572 (GRCm39)	V239A	possibly damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zfhx4	G	T	3: 5,464,384 (GRCm39)	C1514F	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTGACTGGAAAGGGCCTG -3'
(R):5'- GTGTTGGGGCATCACTCATC -3'

Sequencing Primer
(F):5'- AAAGGGCCTGAAATGAGTTTCTTTG -3'
(R):5'- GGGGCATCACTCATCATTGTTC -3'

Posted On

2015-05-15