Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02419:Sirpb1a'

292559

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sirpb1a

Ensembl Gene

ENSMUSG00000095788

Gene Name

signal-regulatory protein beta 1A

Synonyms

9930027N05Rik, Sirpb1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

15436887-15491487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15491398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 23 (F23S)

Ref Sequence

ENSEMBL: ENSMUSP00000141504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099201] [ENSMUST00000192700] [ENSMUST00000194144]

AlphaFold

A0A0A6YYP6

Predicted Effect

probably benign
Transcript: ENSMUST00000099201
AA Change: F23S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096807
Gene: ENSMUSG00000095788
AA Change: F23S

Domain	Start	End	E-Value	Type
low complexity region	15	21	N/A	INTRINSIC
IG	37	143	2.48e-8	SMART
IGc1	163	236	1.17e-4	SMART
IGc1	269	339	4.91e-4	SMART
transmembrane domain	364	386	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191958

Predicted Effect

probably benign
Transcript: ENSMUST00000192700
AA Change: F23S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141504
Gene: ENSMUSG00000095788
AA Change: F23S

Domain	Start	End	E-Value	Type
low complexity region	15	21	N/A	INTRINSIC
IG	37	143	2.48e-8	SMART
IGc1	163	236	1.17e-4	SMART
IGc1	269	339	4.91e-4	SMART
transmembrane domain	364	386	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000194144
AA Change: F23S

SMART Domains

Protein: ENSMUSP00000141659
Gene: ENSMUSG00000095788
AA Change: F23S

Domain	Start	End	E-Value	Type
Pfam:Ig_2	15	66	6.6e-1	PFAM
Pfam:Ig_3	21	52	1.7e-2	PFAM
Pfam:V-set	23	75	1.2e-7	PFAM
IGc1	96	169	4.8e-7	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 88,312,727 (GRCm39)	F171L	possibly damaging	Het
Abca2	A	G	2: 25,336,849 (GRCm39)	N2291D	probably benign	Het
Adamts9	A	G	6: 92,773,978 (GRCm39)	V1145A	probably benign	Het
Adcy2	A	G	13: 69,130,482 (GRCm39)	V135A	probably benign	Het
Akr1c14	A	T	13: 4,130,617 (GRCm39)		probably null	Het
Aptx	G	T	4: 40,691,032 (GRCm39)	A229E	probably benign	Het
Ash1l	T	C	3: 88,892,872 (GRCm39)	S1584P	probably benign	Het
Catsper3	A	T	13: 55,955,881 (GRCm39)	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,024,055 (GRCm39)	D27G	probably damaging	Het
Cobll1	A	T	2: 64,981,392 (GRCm39)	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,463,799 (GRCm39)	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777 (GRCm39)		probably null	Het
Cyp11b2	A	T	15: 74,722,904 (GRCm39)	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,292,332 (GRCm39)	I162T	probably damaging	Het
Efcab9	T	C	11: 32,472,950 (GRCm39)	I166V	probably benign	Het
Ep400	A	T	5: 110,845,242 (GRCm39)		probably null	Het
Gata6	G	A	18: 11,054,220 (GRCm39)	G50R	probably damaging	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Grifin	T	C	5: 140,550,455 (GRCm39)	T20A	probably benign	Het
Hnf4a	A	T	2: 163,408,202 (GRCm39)	I352F	probably damaging	Het
Ifi204	T	C	1: 173,576,946 (GRCm39)	T552A	possibly damaging	Het
Ifi205	C	T	1: 173,845,180 (GRCm39)	A201T	probably damaging	Het
Kcnk6	A	G	7: 28,924,627 (GRCm39)	V259A	probably benign	Het
Kif21b	A	G	1: 136,079,005 (GRCm39)	N451S	probably benign	Het
Klhl24	T	A	16: 19,926,118 (GRCm39)	Y215*	probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mical1	A	G	10: 41,358,273 (GRCm39)	K429E	possibly damaging	Het
Misp	A	G	10: 79,663,705 (GRCm39)		probably benign	Het
Mon2	T	C	10: 122,852,352 (GRCm39)	N1007S	probably benign	Het
Or10v1	A	T	19: 11,874,186 (GRCm39)	Y267F	probably benign	Het
Or14a260	C	A	7: 85,984,870 (GRCm39)	V245F	probably damaging	Het
Or51v8	A	T	7: 103,319,682 (GRCm39)	C185*	probably null	Het
Or8k41	T	A	2: 86,313,259 (GRCm39)	I276F	probably damaging	Het
Pex6	C	A	17: 47,035,361 (GRCm39)	T840N	possibly damaging	Het
Prox1	C	T	1: 189,893,327 (GRCm39)	A373T	probably benign	Het
Rapgef3	G	T	15: 97,648,171 (GRCm39)	N679K	probably benign	Het
Serpina3n	T	C	12: 104,379,777 (GRCm39)	V390A	possibly damaging	Het
Slc44a3	T	C	3: 121,283,906 (GRCm39)	T449A	probably benign	Het
Smad6	G	A	9: 63,860,800 (GRCm39)		probably benign	Het
Sos2	C	T	12: 69,663,764 (GRCm39)	M573I	probably benign	Het
St8sia1	A	T	6: 142,774,661 (GRCm39)	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 84,902,125 (GRCm39)	S1674P	possibly damaging	Het
Trim47	G	A	11: 115,997,027 (GRCm39)	R576W	probably damaging	Het
Wdr86	A	T	5: 24,927,702 (GRCm39)	I79N	probably damaging	Het
Wwp2	T	A	8: 108,276,447 (GRCm39)	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,013,581 (GRCm39)	T428A	probably benign	Het
Zfp592	A	G	7: 80,687,993 (GRCm39)	E973G	probably damaging	Het

Other mutations in Sirpb1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Sirpb1a	APN	3	15,475,788 (GRCm39)	unclassified	probably benign
IGL00597:Sirpb1a	APN	3	15,481,977 (GRCm39)	missense	probably damaging	1.00
IGL01521:Sirpb1a	APN	3	15,475,561 (GRCm39)	missense	probably benign	0.00
IGL01678:Sirpb1a	APN	3	15,476,370 (GRCm39)	missense	probably damaging	1.00
IGL02154:Sirpb1a	APN	3	15,475,504 (GRCm39)	missense	probably damaging	1.00
IGL02275:Sirpb1a	APN	3	15,475,469 (GRCm39)	critical splice donor site	probably null
IGL02657:Sirpb1a	APN	3	15,482,111 (GRCm39)	missense	possibly damaging	0.85
IGL03086:Sirpb1a	APN	3	15,491,388 (GRCm39)	splice site	probably null
PIT4142001:Sirpb1a	UTSW	3	15,476,258 (GRCm39)	missense	probably benign	0.00
R0270:Sirpb1a	UTSW	3	15,475,587 (GRCm39)	missense	probably damaging	1.00
R1975:Sirpb1a	UTSW	3	15,444,141 (GRCm39)	missense	probably benign	0.00
R3432:Sirpb1a	UTSW	3	15,491,447 (GRCm39)	missense	probably damaging	0.98
R4613:Sirpb1a	UTSW	3	15,482,097 (GRCm39)	missense	probably benign	0.09
R5325:Sirpb1a	UTSW	3	15,476,503 (GRCm39)	missense	possibly damaging	0.90
R6223:Sirpb1a	UTSW	3	15,444,086 (GRCm39)	missense	probably benign	0.02
R6526:Sirpb1a	UTSW	3	15,444,080 (GRCm39)	missense	probably damaging	0.99
R6903:Sirpb1a	UTSW	3	15,481,984 (GRCm39)	missense	probably damaging	0.99
R7349:Sirpb1a	UTSW	3	15,475,664 (GRCm39)	missense	probably damaging	0.99
R7513:Sirpb1a	UTSW	3	15,476,503 (GRCm39)	missense	possibly damaging	0.90
R8250:Sirpb1a	UTSW	3	15,444,104 (GRCm39)	missense	possibly damaging	0.92
R8700:Sirpb1a	UTSW	3	15,476,419 (GRCm39)	missense	probably damaging	0.97
R9263:Sirpb1a	UTSW	3	15,481,992 (GRCm39)	missense	probably damaging	1.00
R9553:Sirpb1a	UTSW	3	15,476,320 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16