Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4618001:Scgb2b24'

555699

Institutional Source

Beutler Lab

Gene Symbol

Scgb2b24

Ensembl Gene

ENSMUSG00000046438

Gene Name

secretoglobin, family 2B, member 24

Synonyms

Abpz, Abpbg24, C2b, Scgb2b3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

PIT4618001 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

33436618-33438720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33438036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 24 (C24S)

Ref Sequence

ENSEMBL: ENSMUSP00000052456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055444]

AlphaFold

Q7M747

Predicted Effect

probably damaging
Transcript: ENSMUST00000055444
AA Change: C24S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052456
Gene: ENSMUSG00000046438
AA Change: C24S

Domain	Start	End	E-Value	Type
low complexity region	5	11	N/A	INTRINSIC
Pfam:Feld-I_B	24	90	5.9e-33	PFAM

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 85.9%
20x: 75.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,693,575 (GRCm39)	D64V	probably damaging	Het
Ankdd1a	A	C	9: 65,414,932 (GRCm39)	I268S	possibly damaging	Het
Atad3a	C	T	4: 155,834,595 (GRCm39)	R402Q	probably benign	Het
C3ar1	A	G	6: 122,827,746 (GRCm39)	V157A	probably benign	Het
Cd200l1	A	G	16: 45,264,297 (GRCm39)	F87S	probably benign	Het
Cd55	C	T	1: 130,384,606 (GRCm39)	V206I	probably benign	Het
Cd8a	A	G	6: 71,350,661 (GRCm39)	D42G	possibly damaging	Het
Cemip	G	T	7: 83,593,147 (GRCm39)	F1185L	probably benign	Het
Cfap58	A	G	19: 47,963,953 (GRCm39)	D527G	probably damaging	Het
Cyp2a12	C	A	7: 26,734,198 (GRCm39)	S377Y	probably benign	Het
Dapk2	A	G	9: 66,175,968 (GRCm39)	D289G	probably benign	Het
Efcab6	G	A	15: 83,867,647 (GRCm39)	A277V	probably benign	Het
Ephx2	A	T	14: 66,339,671 (GRCm39)	F250L	probably damaging	Het
Flg2	A	T	3: 93,111,088 (GRCm39)	S1039C	unknown	Het
Gramd1a	A	G	7: 30,832,021 (GRCm39)	V674A	probably benign	Het
Gtf2a1	A	C	12: 91,534,543 (GRCm39)	V237G	probably benign	Het
I830077J02Rik	G	A	3: 105,833,886 (GRCm39)	T90M	probably damaging	Het
Jagn1	T	A	6: 113,424,398 (GRCm39)	L90H	probably damaging	Het
Mdn1	G	T	4: 32,746,527 (GRCm39)	A4158S	probably benign	Het
Myh11	G	A	16: 14,018,930 (GRCm39)	A1839V		Het
Olr1	G	A	6: 129,476,869 (GRCm39)	A132V	probably damaging	Het
Paqr3	A	T	5: 97,251,330 (GRCm39)	H131Q	possibly damaging	Het
Pde4b	A	T	4: 102,460,009 (GRCm39)	T397S	probably benign	Het
Pon1	A	G	6: 5,168,349 (GRCm39)	C353R	probably damaging	Het
Ppie	G	A	4: 123,032,661 (GRCm39)	T43I	probably null	Het
Prr5l	A	G	2: 101,588,875 (GRCm39)	F92L	probably damaging	Het
Rai14	T	C	15: 10,575,242 (GRCm39)	Y601C	probably damaging	Het
Rasal1	A	G	5: 120,808,441 (GRCm39)	D491G	probably damaging	Het
Rbm12b1	T	A	4: 12,145,441 (GRCm39)	V471E	probably damaging	Het
Rpusd2	T	C	2: 118,868,933 (GRCm39)	L452P	possibly damaging	Het
Slc17a5	C	T	9: 78,445,530 (GRCm39)	V468M	possibly damaging	Het
Tcp10c	A	G	17: 13,576,772 (GRCm39)	K117R	possibly damaging	Het
Ubash3b	A	G	9: 40,927,923 (GRCm39)	S584P	probably benign	Het
Vps13b	C	T	15: 35,709,386 (GRCm39)	R1778C	probably damaging	Het
Ythdc2	A	G	18: 44,967,665 (GRCm39)	I220M	probably benign	Het
Zfp474	C	A	18: 52,771,476 (GRCm39)	T43K	probably damaging	Het
Zscan4-ps3	G	A	7: 11,347,261 (GRCm39)	M432I	probably benign	Het

Other mutations in Scgb2b24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01825:Scgb2b24	APN	7	33,438,652 (GRCm39)	missense	probably damaging	0.97
IGL02328:Scgb2b24	APN	7	33,438,050 (GRCm39)	splice site	probably benign
R3441:Scgb2b24	UTSW	7	33,438,025 (GRCm39)	missense	probably damaging	1.00
R5874:Scgb2b24	UTSW	7	33,436,830 (GRCm39)	missense	probably damaging	0.99
R6572:Scgb2b24	UTSW	7	33,437,902 (GRCm39)	missense	probably damaging	1.00
R6800:Scgb2b24	UTSW	7	33,437,894 (GRCm39)	missense	probably benign	0.01
R7431:Scgb2b24	UTSW	7	33,438,674 (GRCm39)	missense	probably benign	0.13
R8096:Scgb2b24	UTSW	7	33,438,646 (GRCm39)	splice site	probably null
R8458:Scgb2b24	UTSW	7	33,436,779 (GRCm39)	missense	probably benign	0.00
R9481:Scgb2b24	UTSW	7	33,436,795 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGAGGACATTACCAAAATTTGTGG -3'
(R):5'- TCTCTAAGTAGGGCATGAGACC -3'

Sequencing Primer
(F):5'- ACCAAAATTTGTGGTTCCAGTG -3'
(R):5'- GGGCATGAGACCGACCTAG -3'

Posted On

2019-06-07