Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02702:Spink12'

304160

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spink12

Ensembl Gene

ENSMUSG00000061144

Gene Name

serine peptidase inhibitor, Kazal type 12

Synonyms

9230117E20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02702

Quality Score

Status

Chromosome

Chromosomal Location

44237474-44241610 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44237836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 38 (V38A)

Ref Sequence

ENSEMBL: ENSMUSP00000080025 (fasta)

Gene Model

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

AlphaFold

Q9D256

Predicted Effect

probably benign
Transcript: ENSMUST00000081271
AA Change: V38A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080025
Gene: ENSMUSG00000061144
AA Change: V38A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	C	T	6: 88,815,120 (GRCm39)	V337I	probably benign	Het
Adam11	G	A	11: 102,667,864 (GRCm39)	V750I	probably benign	Het
Alms1	T	C	6: 85,576,831 (GRCm39)	V129A	probably benign	Het
Cacna1d	T	A	14: 29,845,490 (GRCm39)	K560*	probably null	Het
Cntn1	A	G	15: 92,189,482 (GRCm39)		probably benign	Het
Cpne2	T	C	8: 95,296,651 (GRCm39)	V530A	probably benign	Het
Fbxo21	T	C	5: 118,138,575 (GRCm39)	L507P	probably damaging	Het
Fndc4	T	C	5: 31,451,079 (GRCm39)	K204R	probably damaging	Het
Gnrhr	G	T	5: 86,330,128 (GRCm39)	N297K	possibly damaging	Het
Grin2b	A	G	6: 135,716,130 (GRCm39)	F729S	probably damaging	Het
Hdac3	C	A	18: 38,074,147 (GRCm39)	R359L	probably benign	Het
Met	T	C	6: 17,534,142 (GRCm39)	S662P	possibly damaging	Het
Mphosph9	T	A	5: 124,398,052 (GRCm39)	E1081D	probably damaging	Het
Mycbp2	T	G	14: 103,457,560 (GRCm39)	T1546P	probably benign	Het
Nlrp9a	T	A	7: 26,264,381 (GRCm39)	M767K	possibly damaging	Het
Olfm5	A	G	7: 103,803,564 (GRCm39)	Y300H	probably damaging	Het
Or8b47	T	A	9: 38,435,856 (GRCm39)	V276D	probably damaging	Het
Pcf11	A	T	7: 92,310,826 (GRCm39)	N178K	possibly damaging	Het
Polr3a	T	C	14: 24,520,945 (GRCm39)	I571M	probably benign	Het
Ppef2	T	A	5: 92,379,678 (GRCm39)	R557W	probably benign	Het
Prelid3a	T	A	18: 67,606,864 (GRCm39)	D85E	probably damaging	Het
Rb1cc1	A	G	1: 6,310,247 (GRCm39)	E215G	probably damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Recql4	C	T	15: 76,591,485 (GRCm39)	G501R	probably damaging	Het
Sema3e	T	C	5: 14,283,740 (GRCm39)		probably benign	Het
Shisa6	A	C	11: 66,110,788 (GRCm39)	L318V	probably damaging	Het
Slu7	T	C	11: 43,329,719 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,144,698 (GRCm39)	D1549G	probably damaging	Het
Tet1	A	G	10: 62,715,531 (GRCm39)	V88A	possibly damaging	Het
Tmem200a	C	T	10: 25,869,501 (GRCm39)	G256D	probably damaging	Het
Ttn	G	T	2: 76,714,835 (GRCm39)		probably benign	Het
Ugt2b34	T	C	5: 87,040,750 (GRCm39)	I391V	probably benign	Het
Zfp292	A	T	4: 34,809,415 (GRCm39)	L1215I	probably benign	Het
Zfp410	C	A	12: 84,372,550 (GRCm39)	N125K	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
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
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

2015-04-16