Mutagenetix > Incidental Mutation

Incidental Mutation 'R9553:Sirpb1a'

720592

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1a

Ensembl Gene

ENSMUSG00000095788

Gene Name

signal-regulatory protein beta 1A

Synonyms

9930027N05Rik, Sirpb1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R9553 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15436887-15491487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15476320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 226 (C226Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141504 (fasta)

Gene Model

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

AlphaFold

A0A0A6YYP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000099201
AA Change: C226Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096807
Gene: ENSMUSG00000095788
AA Change: C226Y

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

probably damaging
Transcript: ENSMUST00000192700
AA Change: C226Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141504
Gene: ENSMUSG00000095788
AA Change: C226Y

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

possibly damaging
Transcript: ENSMUST00000194144
AA Change: C159Y

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141659
Gene: ENSMUSG00000095788
AA Change: C159Y

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	C	T	7: 43,900,334 (GRCm39)	R80W	probably damaging	Het
Ankdd1b	G	T	13: 96,591,294 (GRCm39)	N68K	possibly damaging	Het
Arhgef1	A	G	7: 24,619,115 (GRCm39)	E452G	probably damaging	Het
Cbx8	T	G	11: 118,930,964 (GRCm39)	E45D	probably damaging	Het
Ceacam15	T	C	7: 16,407,316 (GRCm39)	Y67C	probably damaging	Het
Ceacam20	A	G	7: 19,723,926 (GRCm39)	Y570C	probably damaging	Het
Cnga4	A	G	7: 105,054,977 (GRCm39)	Y187C	probably damaging	Het
Cntrob	T	C	11: 69,205,679 (GRCm39)	N385S	probably benign	Het
Coro7	A	G	16: 4,486,624 (GRCm39)	V183A	possibly damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dnah7b	A	G	1: 46,264,956 (GRCm39)	Y2150C	probably damaging	Het
E2f8	A	G	7: 48,528,394 (GRCm39)	S25P	probably damaging	Het
Eif1ad7	A	G	12: 88,238,476 (GRCm39)	Y95H	probably damaging	Het
Eif3d	T	C	15: 77,843,837 (GRCm39)	E503G	probably damaging	Het
Elp6	T	A	9: 110,144,965 (GRCm39)	V157D	probably damaging	Het
Entpd3	T	C	9: 120,387,546 (GRCm39)	Y248H	probably damaging	Het
Fam186a	T	C	15: 99,844,561 (GRCm39)	E561G	unknown	Het
Fbxl13	C	T	5: 21,728,151 (GRCm39)	G519S	probably damaging	Het
Fgfr4	T	G	13: 55,309,228 (GRCm39)	S422A	probably damaging	Het
Flg2	G	A	3: 93,121,901 (GRCm39)	C1357Y	unknown	Het
Fpr3	T	A	17: 18,191,612 (GRCm39)	N294K	probably damaging	Het
Gas6	T	C	8: 13,525,048 (GRCm39)	Q312R	possibly damaging	Het
Glg1	C	T	8: 111,926,770 (GRCm39)	E182K	probably benign	Het
Gucy1b1	T	C	3: 81,947,087 (GRCm39)	D374G	probably damaging	Het
Ifrd2	C	T	9: 107,468,285 (GRCm39)	T251I	possibly damaging	Het
Igkv4-91	C	T	6: 68,745,632 (GRCm39)	G89R	possibly damaging	Het
Kcnk1	C	A	8: 126,756,322 (GRCm39)	Y281*	probably null	Het
Kcp	G	T	6: 29,485,100 (GRCm39)	F1217L	probably null	Het
Lama3	G	A	18: 12,563,019 (GRCm39)	G514D	probably damaging	Het
Madd	A	G	2: 91,008,800 (GRCm39)	L34P	probably damaging	Het
Mak	T	A	13: 41,183,595 (GRCm39)	T562S	probably benign	Het
Nfatc4	A	G	14: 56,070,259 (GRCm39)	E879G	probably damaging	Het
Or5w14	A	T	2: 87,541,992 (GRCm39)	V86E	probably benign	Het
Pcdhb19	C	T	18: 37,631,848 (GRCm39)	R548C	probably damaging	Het
Peli2	A	G	14: 48,488,150 (GRCm39)	I165V	probably damaging	Het
Plekhd1	A	T	12: 80,753,977 (GRCm39)	M148L	probably benign	Het
Rars2	G	A	4: 34,637,014 (GRCm39)	G172R	probably damaging	Het
Reck	T	C	4: 43,928,310 (GRCm39)	V537A	probably damaging	Het
Rnf135	T	A	11: 80,074,758 (GRCm39)	S6T	probably benign	Het
Speg	A	C	1: 75,394,645 (GRCm39)	I1785L	probably benign	Het
Spry4	T	C	18: 38,723,070 (GRCm39)	N231S	probably damaging	Het
Tchh	C	T	3: 93,355,125 (GRCm39)	Q1522*	probably null	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Trav7d-3	G	T	14: 52,981,820 (GRCm39)		probably benign	Het
Vmn2r49	A	C	7: 9,720,849 (GRCm39)	V214G	probably benign	Het
Vmn2r80	T	C	10: 78,984,743 (GRCm39)	Y32H	probably benign	Het
Vwf	A	C	6: 125,577,662 (GRCm39)	D501A		Het
Zfp428	A	G	7: 24,214,866 (GRCm39)	T161A	possibly damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
IGL02419:Sirpb1a	APN	3	15,491,398 (GRCm39)	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TGTAGTGATCATACTCTGTGACC -3'
(R):5'- TCAGCAGACAGTGACCTTTAC -3'

Sequencing Primer
(F):5'- TAGTGATCATACTCTGTGACCACCAC -3'
(R):5'- GACAGTGACCTTTACATGCAGATC -3'

Posted On

2022-08-09