Mutagenetix > Incidental Mutation

Incidental Mutation 'R6292:Scgb1b24'

508499

Institutional Source

Beutler Lab

Gene Symbol

Scgb1b24

Ensembl Gene

ENSMUSG00000078753

Gene Name

secretoglobin, family 1B, member 24

Synonyms

Gm12769, Abpa24

MMRRC Submission

044461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33743799-33744982 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33744152 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 79 (A79S)

Ref Sequence

ENSEMBL: ENSMUSP00000103722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055444] [ENSMUST00000108087]

AlphaFold

B1B0N6

Predicted Effect

probably benign
Transcript: ENSMUST00000055444

SMART Domains

Protein: ENSMUSP00000052456
Gene: ENSMUSG00000046438

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108087
AA Change: A79S

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103722
Gene: ENSMUSG00000078753
AA Change: A79S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
UTG	23	92	4.95e-15	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,200,251 (GRCm38)	V709E	probably damaging	Het
Ankrd33b	C	T	15: 31,325,085 (GRCm38)		probably null	Het
Apaf1	T	C	10: 90,991,563 (GRCm38)	T1202A	possibly damaging	Het
Apip	G	T	2: 103,092,467 (GRCm38)	C210F	probably benign	Het
Chd9	A	T	8: 90,932,922 (GRCm38)	H170L	probably benign	Het
Clec16a	T	C	16: 10,560,151 (GRCm38)		probably null	Het
Ep300	T	A	15: 81,616,734 (GRCm38)		probably benign	Het
Etl4	C	T	2: 20,743,573 (GRCm38)	H39Y	probably damaging	Het
Gdap1l1	A	T	2: 163,451,507 (GRCm38)	I218F	probably damaging	Het
Gm5141	A	T	13: 62,774,438 (GRCm38)	C306S	probably damaging	Het
Gm9961	C	T	16: 11,930,472 (GRCm38)		noncoding transcript	Het
Gpr27	C	T	6: 99,693,658 (GRCm38)	S327L	possibly damaging	Het
Hectd3	A	C	4: 116,998,808 (GRCm38)	T435P	probably damaging	Het
Hs3st1	T	A	5: 39,614,790 (GRCm38)	Q170L	possibly damaging	Het
Hykk	T	C	9: 54,920,826 (GRCm38)		probably null	Het
Lilra5	T	C	7: 4,238,339 (GRCm38)	S92P	possibly damaging	Het
Lrig1	A	T	6: 94,616,445 (GRCm38)	N418K	probably damaging	Het
Miga1	A	G	3: 152,317,719 (GRCm38)	F232L	probably benign	Het
Mkrn2	T	A	6: 115,613,334 (GRCm38)	M217K	probably damaging	Het
Myh7b	A	T	2: 155,632,396 (GRCm38)	Q1677L	probably damaging	Het
N4bp1	T	C	8: 86,853,239 (GRCm38)	E645G	probably damaging	Het
Nckap5	T	C	1: 125,915,015 (GRCm38)	K1752E	probably damaging	Het
Nek1	A	G	8: 61,054,736 (GRCm38)		probably null	Het
Ntng1	T	C	3: 110,143,886 (GRCm38)		probably benign	Het
Nup133	A	G	8: 123,917,437 (GRCm38)	V730A	probably benign	Het
Olfr314	T	A	11: 58,786,237 (GRCm38)	M1K	probably null	Het
Olfr620	T	A	7: 103,612,179 (GRCm38)	H58L	probably damaging	Het
Paqr6	C	T	3: 88,367,898 (GRCm38)	P213S	probably damaging	Het
Pign	A	T	1: 105,585,077 (GRCm38)	V627D	possibly damaging	Het
Rasal1	T	A	5: 120,659,620 (GRCm38)	V139E	probably damaging	Het
Slc25a28	T	C	19: 43,664,592 (GRCm38)	D210G	probably benign	Het
Slc38a3	A	T	9: 107,655,154 (GRCm38)	I393N	possibly damaging	Het
Slc41a2	T	C	10: 83,254,926 (GRCm38)	N465D	probably damaging	Het
Slc5a5	G	A	8: 70,891,178 (GRCm38)	T160I	probably damaging	Het
Smarca2	C	T	19: 26,630,892 (GRCm38)	A117V	probably damaging	Het
Sorcs2	C	T	5: 36,062,587 (GRCm38)	R371H	probably damaging	Het
Taf4	A	G	2: 179,923,987 (GRCm38)	S872P	probably damaging	Het
Tdrd3	G	T	14: 87,506,254 (GRCm38)	C540F	probably benign	Het
Thumpd1	A	T	7: 119,720,674 (GRCm38)	L23Q	probably benign	Het
Top1	A	T	2: 160,698,141 (GRCm38)	Y213F	probably benign	Het
Txndc5	T	C	13: 38,528,184 (GRCm38)		probably null	Het
Unc79	C	A	12: 103,142,732 (GRCm38)	A2005D	possibly damaging	Het
Upb1	T	C	10: 75,438,171 (GRCm38)	L344P	probably damaging	Het
Vmn1r72	T	A	7: 11,669,652 (GRCm38)	S290C	probably benign	Het
Vmn2r103	A	G	17: 19,793,604 (GRCm38)	I219M	possibly damaging	Het
Wapl	A	G	14: 34,729,195 (GRCm38)	T729A	probably damaging	Het
Washc5	C	T	15: 59,355,934 (GRCm38)	R393H	probably damaging	Het

Other mutations in Scgb1b24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Scgb1b24	APN	7	33,744,009 (GRCm38)	missense	probably damaging	1.00
IGL01906:Scgb1b24	APN	7	33,744,113 (GRCm38)	missense	probably damaging	0.98
IGL02268:Scgb1b24	APN	7	33,744,963 (GRCm38)	missense	possibly damaging	0.95
R0268:Scgb1b24	UTSW	7	33,743,853 (GRCm38)	missense	probably null	1.00
R1869:Scgb1b24	UTSW	7	33,744,044 (GRCm38)	missense	probably damaging	0.99
R5229:Scgb1b24	UTSW	7	33,744,095 (GRCm38)	missense	possibly damaging	0.95
R7444:Scgb1b24	UTSW	7	33,744,141 (GRCm38)	missense	possibly damaging	0.64
R9428:Scgb1b24	UTSW	7	33,744,068 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTCTGGGATGTGCTGGTAC -3'
(R):5'- ACTCAGGCAGGGATCTAGTG -3'

Sequencing Primer
(F):5'- GCTGGTACATGTCTTTCAATGAAG -3'
(R):5'- CAGGGATCTAGTGTGGCTTGGC -3'

Posted On

2018-03-15