Mutagenetix > Incidental Mutation

Incidental Mutation 'R3922:Sbno1'

306978

Institutional Source

Beutler Lab

Gene Symbol

Sbno1

Ensembl Gene

ENSMUSG00000038095

Gene Name

strawberry notch 1

Synonyms

9330180L10Rik, sno

MMRRC Submission

040819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124506765-124564059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124519993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1122 (Y1122C)

Ref Sequence

ENSEMBL: ENSMUSP00000142481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065263] [ENSMUST00000168651] [ENSMUST00000199808]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000065263
AA Change: Y1122C

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

SMART Domains

Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: Y1122C

Domain	Start	End	E-Value	Type
low complexity region	217	234	N/A	INTRINSIC
Pfam:AAA_34	254	559	3.6e-144	PFAM
Pfam:ResIII	287	478	2.7e-8	PFAM
low complexity region	633	649	N/A	INTRINSIC
low complexity region	727	748	N/A	INTRINSIC
low complexity region	779	797	N/A	INTRINSIC
low complexity region	815	838	N/A	INTRINSIC
coiled coil region	839	868	N/A	INTRINSIC
Pfam:Helicase_C_4	870	1146	3.6e-126	PFAM
low complexity region	1365	1384	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168651
AA Change: Y1121C

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

SMART Domains

Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: Y1121C

Domain	Start	End	E-Value	Type
low complexity region	217	234	N/A	INTRINSIC
Pfam:AAA_34	254	559	3.6e-144	PFAM
Pfam:ResIII	287	478	2.7e-8	PFAM
low complexity region	633	649	N/A	INTRINSIC
low complexity region	727	748	N/A	INTRINSIC
low complexity region	779	797	N/A	INTRINSIC
low complexity region	815	838	N/A	INTRINSIC
coiled coil region	839	868	N/A	INTRINSIC
Pfam:Helicase_C_4	870	1146	3.6e-126	PFAM
low complexity region	1365	1384	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199245

Predicted Effect

probably damaging
Transcript: ENSMUST00000199808
AA Change: Y1122C

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

SMART Domains

Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: Y1122C

Domain	Start	End	E-Value	Type
low complexity region	217	234	N/A	INTRINSIC
Pfam:AAA_34	252	560	6e-139	PFAM
Pfam:ResIII	289	476	1.3e-7	PFAM
low complexity region	633	649	N/A	INTRINSIC
low complexity region	727	748	N/A	INTRINSIC
low complexity region	779	797	N/A	INTRINSIC
low complexity region	815	838	N/A	INTRINSIC
coiled coil region	839	868	N/A	INTRINSIC
Pfam:Helicase_C_4	870	1146	4.6e-120	PFAM
low complexity region	1365	1384	N/A	INTRINSIC

Meta Mutation Damage Score

0.6270

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
4921504E06Rik	T	A	2: 19,485,371 (GRCm39)	E432V	probably benign	Het
Ahnak	G	A	19: 8,983,692 (GRCm39)	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,105,150 (GRCm39)	R405W	probably damaging	Het
Arhgef28	A	G	13: 98,130,452 (GRCm39)	L462P	possibly damaging	Het
Arid1b	T	C	17: 5,393,316 (GRCm39)	V2282A	probably damaging	Het
Becn2	T	C	1: 175,748,852 (GRCm39)	V306A	probably benign	Het
Cdkl1	G	T	12: 69,803,373 (GRCm39)	R168S	probably damaging	Het
Cep70	T	A	9: 99,157,632 (GRCm39)	*117R	probably null	Het
Cnnm1	A	G	19: 43,428,884 (GRCm39)	M1V	probably null	Het
Cntrl	A	G	2: 35,019,751 (GRCm39)	E526G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Ddx59	T	A	1: 136,344,482 (GRCm39)	V51D	probably benign	Het
Dtd2	G	C	12: 52,051,734 (GRCm39)		probably null	Het
Eea1	T	A	10: 95,872,495 (GRCm39)	N1068K	probably benign	Het
Egfr	T	A	11: 16,831,495 (GRCm39)	C555S	probably damaging	Het
Esd	A	T	14: 74,980,667 (GRCm39)	Q130H	probably benign	Het
Gpr89	A	T	3: 96,798,215 (GRCm39)	I147N	probably damaging	Het
H2-M10.1	T	A	17: 36,636,577 (GRCm39)	I76L	probably benign	Het
Lgi4	A	T	7: 30,766,873 (GRCm39)	D300V	probably benign	Het
Lrp1b	C	A	2: 40,567,593 (GRCm39)	V276L	unknown	Het
Lrp2	T	C	2: 69,336,720 (GRCm39)	K1351E	probably benign	Het
Mroh8	T	C	2: 157,064,731 (GRCm39)	I782V	probably benign	Het
Msrb1	T	C	17: 24,959,057 (GRCm39)	S70P	probably damaging	Het
Nek10	T	C	14: 14,861,585 (GRCm38)	M547T	possibly damaging	Het
Or51ah3	T	C	7: 103,209,912 (GRCm39)	V76A	probably benign	Het
Or6c2b	C	A	10: 128,947,482 (GRCm39)	V271F	possibly damaging	Het
Or9i2	T	C	19: 13,816,130 (GRCm39)	T136A	probably damaging	Het
P4htm	T	C	9: 108,460,094 (GRCm39)	N227D	probably benign	Het
Plekhm2	T	C	4: 141,356,843 (GRCm39)	T787A	probably benign	Het
Pramel5	A	G	4: 143,999,622 (GRCm39)	L155P	probably damaging	Het
Scn9a	T	A	2: 66,357,217 (GRCm39)	D1028V	possibly damaging	Het
Sft2d1	G	T	17: 8,537,714 (GRCm39)	L34F	possibly damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc27a3	G	T	3: 90,294,392 (GRCm39)	H460N	possibly damaging	Het
Slc35g2	A	T	9: 100,434,780 (GRCm39)	I297N	probably benign	Het
Ssh1	T	G	5: 114,080,769 (GRCm39)	Q865P	possibly damaging	Het
Trp63	A	G	16: 25,707,759 (GRCm39)	D583G	probably damaging	Het
Usp28	T	C	9: 48,942,223 (GRCm39)		probably null	Het
Wdr43	A	G	17: 71,945,296 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,465,707 (GRCm39)	Y1955C	probably damaging	Het
Zfp108	G	A	7: 23,960,773 (GRCm39)	G455R	probably damaging	Het
Zfp353-ps	A	T	8: 42,536,049 (GRCm39)		noncoding transcript	Het

Other mutations in Sbno1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Sbno1	APN	5	124,540,268 (GRCm39)	missense	probably damaging	1.00
IGL01154:Sbno1	APN	5	124,548,312 (GRCm39)	missense	probably damaging	1.00
IGL01309:Sbno1	APN	5	124,519,769 (GRCm39)	missense	probably benign	0.41
IGL01330:Sbno1	APN	5	124,530,042 (GRCm39)	missense	probably damaging	1.00
IGL01541:Sbno1	APN	5	124,516,618 (GRCm39)	splice site	probably benign
IGL01800:Sbno1	APN	5	124,519,568 (GRCm39)	splice site	probably benign
IGL01987:Sbno1	APN	5	124,542,282 (GRCm39)	missense	probably damaging	1.00
IGL02178:Sbno1	APN	5	124,538,258 (GRCm39)	splice site	probably null
IGL02544:Sbno1	APN	5	124,542,046 (GRCm39)	missense	probably damaging	0.99
IGL02572:Sbno1	APN	5	124,519,740 (GRCm39)	splice site	probably benign
IGL02592:Sbno1	APN	5	124,538,872 (GRCm39)	missense	probably damaging	1.00
IGL03033:Sbno1	APN	5	124,514,213 (GRCm39)	missense	probably damaging	0.97
IGL03089:Sbno1	APN	5	124,525,374 (GRCm39)	splice site	probably benign
IGL03131:Sbno1	APN	5	124,526,668 (GRCm39)	missense	probably damaging	1.00
Decrement	UTSW	5	124,538,910 (GRCm39)	missense	probably damaging	1.00
R0200:Sbno1	UTSW	5	124,522,604 (GRCm39)	missense	probably damaging	1.00
R0217:Sbno1	UTSW	5	124,542,387 (GRCm39)	critical splice acceptor site	probably null
R0233:Sbno1	UTSW	5	124,514,289 (GRCm39)	missense	probably damaging	1.00
R0233:Sbno1	UTSW	5	124,514,289 (GRCm39)	missense	probably damaging	1.00
R0334:Sbno1	UTSW	5	124,524,931 (GRCm39)	missense	possibly damaging	0.79
R0401:Sbno1	UTSW	5	124,548,348 (GRCm39)	missense	probably damaging	0.96
R0608:Sbno1	UTSW	5	124,522,604 (GRCm39)	missense	probably damaging	1.00
R0615:Sbno1	UTSW	5	124,548,202 (GRCm39)	missense	probably damaging	1.00
R0653:Sbno1	UTSW	5	124,524,955 (GRCm39)	missense	possibly damaging	0.79
R0655:Sbno1	UTSW	5	124,514,212 (GRCm39)	missense	possibly damaging	0.95
R1037:Sbno1	UTSW	5	124,531,975 (GRCm39)	missense	possibly damaging	0.92
R1439:Sbno1	UTSW	5	124,522,523 (GRCm39)	splice site	probably benign
R1522:Sbno1	UTSW	5	124,530,675 (GRCm39)	missense	probably damaging	1.00
R1590:Sbno1	UTSW	5	124,522,567 (GRCm39)	missense	possibly damaging	0.55
R1618:Sbno1	UTSW	5	124,542,279 (GRCm39)	missense	probably damaging	1.00
R1671:Sbno1	UTSW	5	124,530,130 (GRCm39)	splice site	probably null
R1779:Sbno1	UTSW	5	124,526,580 (GRCm39)	unclassified	probably benign
R2103:Sbno1	UTSW	5	124,532,000 (GRCm39)	missense	probably damaging	0.98
R2136:Sbno1	UTSW	5	124,525,597 (GRCm39)	splice site	probably null
R2149:Sbno1	UTSW	5	124,540,182 (GRCm39)	splice site	probably null
R2153:Sbno1	UTSW	5	124,516,606 (GRCm39)	missense	probably benign
R2154:Sbno1	UTSW	5	124,516,574 (GRCm39)	missense	probably benign
R2231:Sbno1	UTSW	5	124,543,767 (GRCm39)	missense	probably damaging	1.00
R2879:Sbno1	UTSW	5	124,526,635 (GRCm39)	missense	probably damaging	1.00
R3004:Sbno1	UTSW	5	124,519,771 (GRCm39)	missense	probably damaging	0.96
R4061:Sbno1	UTSW	5	124,526,635 (GRCm39)	missense	probably damaging	1.00
R4096:Sbno1	UTSW	5	124,529,983 (GRCm39)	critical splice donor site	probably null
R4612:Sbno1	UTSW	5	124,542,087 (GRCm39)	missense	probably damaging	1.00
R4879:Sbno1	UTSW	5	124,542,087 (GRCm39)	missense	probably damaging	1.00
R4937:Sbno1	UTSW	5	124,512,672 (GRCm39)	missense	possibly damaging	0.93
R4990:Sbno1	UTSW	5	124,538,228 (GRCm39)	missense	probably damaging	1.00
R5341:Sbno1	UTSW	5	124,546,538 (GRCm39)	critical splice donor site	probably null
R5365:Sbno1	UTSW	5	124,519,929 (GRCm39)	frame shift	probably null
R5399:Sbno1	UTSW	5	124,530,804 (GRCm39)	missense	probably benign	0.09
R5704:Sbno1	UTSW	5	124,533,956 (GRCm39)	critical splice donor site	probably null
R5898:Sbno1	UTSW	5	124,524,854 (GRCm39)	intron	probably benign
R6136:Sbno1	UTSW	5	124,516,554 (GRCm39)	missense	probably benign	0.41
R6154:Sbno1	UTSW	5	124,516,542 (GRCm39)	missense	possibly damaging	0.94
R6412:Sbno1	UTSW	5	124,530,777 (GRCm39)	missense	probably damaging	0.99
R6414:Sbno1	UTSW	5	124,533,994 (GRCm39)	missense	probably benign	0.28
R6454:Sbno1	UTSW	5	124,538,910 (GRCm39)	missense	probably damaging	1.00
R7085:Sbno1	UTSW	5	124,519,783 (GRCm39)	missense	possibly damaging	0.83
R7176:Sbno1	UTSW	5	124,530,944 (GRCm39)	missense	probably benign	0.21
R7219:Sbno1	UTSW	5	124,543,722 (GRCm39)	missense	probably benign	0.00
R7535:Sbno1	UTSW	5	124,551,342 (GRCm39)	missense	possibly damaging	0.48
R7673:Sbno1	UTSW	5	124,551,279 (GRCm39)	missense	probably benign
R7692:Sbno1	UTSW	5	124,543,709 (GRCm39)	missense	probably benign	0.35
R7745:Sbno1	UTSW	5	124,530,962 (GRCm39)	missense	probably benign	0.00
R7762:Sbno1	UTSW	5	124,512,729 (GRCm39)	missense	probably benign	0.19
R8012:Sbno1	UTSW	5	124,522,565 (GRCm39)	missense	probably benign	0.43
R8142:Sbno1	UTSW	5	124,546,608 (GRCm39)	missense	probably benign
R8164:Sbno1	UTSW	5	124,512,684 (GRCm39)	missense	probably benign	0.13
R8259:Sbno1	UTSW	5	124,519,759 (GRCm39)	missense	probably damaging	0.99
R8289:Sbno1	UTSW	5	124,542,068 (GRCm39)	missense	probably damaging	1.00
R8717:Sbno1	UTSW	5	124,512,618 (GRCm39)	missense	possibly damaging	0.85
R9045:Sbno1	UTSW	5	124,543,720 (GRCm39)	missense	probably benign	0.14
R9149:Sbno1	UTSW	5	124,519,762 (GRCm39)	missense	probably benign	0.01
R9529:Sbno1	UTSW	5	124,517,413 (GRCm39)	nonsense	probably null
Z1088:Sbno1	UTSW	5	124,542,367 (GRCm39)	missense	probably damaging	0.98
Z1088:Sbno1	UTSW	5	124,532,021 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACCCTGGAGTTAGAAACTTCTTG -3'
(R):5'- AGTGAGGGCCCTACAAACTG -3'

Sequencing Primer
(F):5'- CCTGGAGTTAGAAACTTCTTGACATC -3'
(R):5'- GAAGGTTTGCTTAGCTGAAG -3'

Posted On

2015-04-17