Mutagenetix > Incidental Mutation

Incidental Mutation 'R8250:Sirpb1a'

640271

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1a

Ensembl Gene

ENSMUSG00000095788

Gene Name

signal-regulatory protein beta 1A

Synonyms

9930027N05Rik, Sirpb1

MMRRC Submission

067676-MU

Accession Numbers

Essential gene?

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

Stock #

R8250 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15436887-15491487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15444104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 382 (L382Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096807 (fasta)

Gene Model

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

AlphaFold

A0A0A6YYP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099201
AA Change: L382Q

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096807
Gene: ENSMUSG00000095788
AA Change: L382Q

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: ENSMUST00000192700
AA Change: L376Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141504
Gene: ENSMUSG00000095788
AA Change: L376Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,260,846 (GRCm39)	E1027V	probably damaging	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Bltp1	T	C	3: 36,971,811 (GRCm39)	S515P	probably damaging	Het
Ccdc27	A	T	4: 154,126,245 (GRCm39)	D81E	unknown	Het
Csrnp3	A	G	2: 65,852,562 (GRCm39)	E330G	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Fat1	A	G	8: 45,406,336 (GRCm39)	N1029S	probably damaging	Het
Ftcd	T	G	10: 76,417,461 (GRCm39)	I300R	probably damaging	Het
Fxr1	T	A	3: 34,101,178 (GRCm39)	Y161*	probably null	Het
Gabrg2	C	T	11: 41,858,379 (GRCm39)	V250I	probably benign	Het
Gmcl1	T	C	6: 86,698,384 (GRCm39)	D171G	possibly damaging	Het
Grk2	A	G	19: 4,339,962 (GRCm39)	F375S	probably damaging	Het
Kat2b	T	A	17: 53,970,564 (GRCm39)	I650N	probably damaging	Het
Lhfpl6	T	C	3: 52,950,759 (GRCm39)	I11T	probably benign	Het
Mbtd1	A	G	11: 93,801,176 (GRCm39)	Y141C	probably damaging	Het
Mon1b	A	T	8: 114,366,351 (GRCm39)	E449V	probably damaging	Het
Mrpl47	T	C	3: 32,785,382 (GRCm39)	N112S	probably damaging	Het
Myo9a	T	A	9: 59,767,392 (GRCm39)	H865Q	probably damaging	Het
Notch3	T	C	17: 32,351,310 (GRCm39)	N1895S	probably damaging	Het
Nuggc	A	G	14: 65,879,318 (GRCm39)	I693V	probably benign	Het
Oip5	A	G	2: 119,446,110 (GRCm39)	S133P	probably benign	Het
Opcml	A	G	9: 28,586,566 (GRCm39)	I95V	probably damaging	Het
Or10v1	A	T	19: 11,873,741 (GRCm39)	M119L	probably damaging	Het
Or52l1	T	C	7: 104,830,518 (GRCm39)	M16V		Het
Or8k20	T	C	2: 86,106,498 (GRCm39)	E111G	probably damaging	Het
P2rx3	A	C	2: 84,852,735 (GRCm39)	V221G	probably damaging	Het
Prr27	A	G	5: 87,990,556 (GRCm39)	N56S	possibly damaging	Het
Psmd11	T	C	11: 80,336,752 (GRCm39)	S135P	possibly damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Sall3	T	C	18: 81,016,743 (GRCm39)	D395G	probably benign	Het
Scube2	T	C	7: 109,463,377 (GRCm39)	N62S	probably benign	Het
Sema6a	A	T	18: 47,423,182 (GRCm39)	S275T	probably damaging	Het
Snrpn	T	A	7: 59,636,633 (GRCm39)		probably null	Het
Sox5	A	T	6: 144,100,777 (GRCm39)	S71T	possibly damaging	Het
Synpo2l	G	T	14: 20,712,344 (GRCm39)	T321K	probably benign	Het
Tex15	G	A	8: 34,055,233 (GRCm39)	E285K	probably null	Het
Tmem126b	G	A	7: 90,118,317 (GRCm39)	L188F	probably damaging	Het
Ttll2	T	C	17: 7,618,767 (GRCm39)	T387A	probably benign	Het
Ttn	A	G	2: 76,667,155 (GRCm39)	Y11484H	unknown	Het
Vmn2r76	T	A	7: 85,875,231 (GRCm39)	Y582F	possibly damaging	Het
Zfp786	A	T	6: 47,797,729 (GRCm39)	L403Q	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCCCATGTTACTCCATTGAG -3'
(R):5'- CCATGTCTTCTAAGTTGAACTACTG -3'

Sequencing Primer
(F):5'- CTCCCCAGAATGATGGATTCATGAG -3'
(R):5'- TTAATGGTGAAAGAGAACACACTC -3'

Posted On

2020-07-28