Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02449:Spink4'

294084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spink4

Ensembl Gene

ENSMUSG00000028415

Gene Name

serine peptidase inhibitor, Kazal type 4

Synonyms

MPGC60

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02449

Quality Score

Status

Chromosome

Chromosomal Location

40920056-40931395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40929190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 72 (M72V)

Ref Sequence

ENSEMBL: ENSMUSP00000030122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030122]

AlphaFold

O35679

Predicted Effect

probably benign
Transcript: ENSMUST00000030122
AA Change: M72V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030122
Gene: ENSMUSG00000028415
AA Change: M72V

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
KAZAL	36	86	4.88e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132943

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,440,908 (GRCm39)		probably null	Het
Akap6	A	G	12: 53,186,971 (GRCm39)	T1462A	probably damaging	Het
Arl6ip6	T	C	2: 53,082,538 (GRCm39)		probably benign	Het
Ascc3	A	T	10: 50,576,695 (GRCm39)	Q883H	probably benign	Het
Atp11a	T	A	8: 12,807,358 (GRCm39)		probably null	Het
Cds1	G	A	5: 101,963,794 (GRCm39)	G371D	probably damaging	Het
Col12a1	A	G	9: 79,548,751 (GRCm39)	L2198P	probably damaging	Het
Cyp2d22	C	T	15: 82,257,442 (GRCm39)	G241D	probably benign	Het
Dapk1	T	C	13: 60,867,584 (GRCm39)		probably benign	Het
Dera	T	A	6: 137,757,815 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,894,234 (GRCm39)	V186A	probably benign	Het
Gm9637	T	A	14: 19,402,436 (GRCm38)		noncoding transcript	Het
Gpr180	T	C	14: 118,397,532 (GRCm39)	L342P	probably damaging	Het
Heg1	T	C	16: 33,559,095 (GRCm39)		probably null	Het
Kcnab2	C	A	4: 152,496,441 (GRCm39)		probably null	Het
Lax1	A	G	1: 133,607,874 (GRCm39)	V289A	probably damaging	Het
Ly6k	T	G	15: 74,668,934 (GRCm39)	D115A	probably benign	Het
Mcc	A	C	18: 44,593,025 (GRCm39)	I670S	probably benign	Het
Mpdz	C	A	4: 81,247,659 (GRCm39)		probably null	Het
Mrgprb8	T	A	7: 48,038,431 (GRCm39)	L34*	probably null	Het
Mtor	T	A	4: 148,618,378 (GRCm39)	H1730Q	possibly damaging	Het
Muc4	C	T	16: 32,576,503 (GRCm39)		probably benign	Het
Myh8	T	C	11: 67,185,440 (GRCm39)		probably null	Het
Naip5	A	T	13: 100,358,683 (GRCm39)	V851E	probably benign	Het
Neb	T	C	2: 52,091,918 (GRCm39)	I1277V	probably benign	Het
Nlrp9a	T	C	7: 26,264,396 (GRCm39)	M683T	probably benign	Het
Npr2	A	G	4: 43,646,641 (GRCm39)	Y663C	probably damaging	Het
Padi3	C	T	4: 140,517,023 (GRCm39)		probably null	Het
Pclo	A	G	5: 14,565,357 (GRCm39)	D41G	probably damaging	Het
Pds5a	A	T	5: 65,776,353 (GRCm39)	N80K	probably damaging	Het
Plec	C	T	15: 76,070,963 (GRCm39)	D812N	possibly damaging	Het
Psg20	A	T	7: 18,418,333 (GRCm39)		probably benign	Het
Ptch2	C	A	4: 116,965,380 (GRCm39)	L322I	possibly damaging	Het
Ptprv	T	C	1: 135,039,074 (GRCm39)		noncoding transcript	Het
Scn2b	A	G	9: 45,036,812 (GRCm39)	K107E	probably damaging	Het
Slc24a4	A	C	12: 102,193,341 (GRCm39)	I226L	probably benign	Het
Supt16	A	T	14: 52,411,263 (GRCm39)	M676K	possibly damaging	Het
Svep1	A	C	4: 58,070,296 (GRCm39)	C2497G	possibly damaging	Het
Tenm2	T	A	11: 35,914,449 (GRCm39)	T2362S	probably damaging	Het
Tgm3	G	T	2: 129,880,529 (GRCm39)		probably null	Het
Trpa1	T	A	1: 14,968,381 (GRCm39)	T462S	probably damaging	Het
Ucp2	G	A	7: 100,148,017 (GRCm39)	V237M	probably damaging	Het
Vmn2r53	C	A	7: 12,316,288 (GRCm39)	L510F	probably damaging	Het
Zan	G	A	5: 137,387,589 (GRCm39)	T4874M	unknown	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp974	T	A	7: 27,611,152 (GRCm39)	Y191F	probably benign	Het

Other mutations in Spink4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1216:Spink4	UTSW	4	40,924,974 (GRCm39)	splice site	probably benign
R1439:Spink4	UTSW	4	40,929,121 (GRCm39)	missense	possibly damaging	0.58
R3720:Spink4	UTSW	4	40,929,136 (GRCm39)	missense	probably damaging	1.00
R3721:Spink4	UTSW	4	40,929,136 (GRCm39)	missense	probably damaging	1.00
R3722:Spink4	UTSW	4	40,929,136 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16