Mutagenetix > Incidental Mutation

Incidental Mutation 'R2233:Sel1l2'

240159

Institutional Source

Beutler Lab

Gene Symbol

Sel1l2

Ensembl Gene

ENSMUSG00000074764

Gene Name

sel-1 suppressor of lin-12-like 2 (C. elegans)

Synonyms

LOC228684

MMRRC Submission

040234-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R2233 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140071775-140231626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140086085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 502 (Y502C)

Ref Sequence

ENSEMBL: ENSMUSP00000113800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122367]

AlphaFold

Q3V172

Predicted Effect

probably damaging
Transcript: ENSMUST00000122367
AA Change: Y502C

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

SMART Domains

Protein: ENSMUSP00000113800
Gene: ENSMUSG00000074764
AA Change: Y502C

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	70	83	N/A	INTRINSIC
SEL1	107	142	1.99e2	SMART
SEL1	143	178	3.3e1	SMART
SEL1	179	214	5.7e-1	SMART
SEL1	215	250	6.3e-3	SMART
SEL1	297	333	6.59e-6	SMART
SEL1	334	370	1.32e-5	SMART
SEL1	371	406	4.55e-9	SMART
SEL1	407	442	4.02e-10	SMART
SEL1	443	478	2.72e-7	SMART
Blast:SEL1	511	550	9e-13	BLAST
SEL1	551	586	1.01e-6	SMART
SEL1	588	623	4.55e-9	SMART
transmembrane domain	661	683	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,584,671 (GRCm39)	I360V	probably benign	Het
Adarb1	A	G	10: 77,153,183 (GRCm39)	V322A	probably damaging	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,727,113 (GRCm39)	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,271,888 (GRCm39)	I1214V	probably benign	Het
Chrm4	A	G	2: 91,758,875 (GRCm39)	S428G	probably benign	Het
Chrnb1	A	T	11: 69,686,428 (GRCm39)	I64N	probably damaging	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Dazap1	A	G	10: 80,113,433 (GRCm39)	K110E	possibly damaging	Het
Dhx16	T	C	17: 36,198,778 (GRCm39)	C737R	probably damaging	Het
Dst	A	G	1: 34,313,343 (GRCm39)	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,002 (GRCm39)	T388A	probably damaging	Het
Gimap6	T	A	6: 48,681,418 (GRCm39)	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,473,446 (GRCm39)		probably benign	Het
Gm12695	C	T	4: 96,612,266 (GRCm39)	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,658,510 (GRCm39)	D385G	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Kifap3	T	A	1: 163,683,634 (GRCm39)	D438E	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc41	G	A	4: 115,953,582 (GRCm39)	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Nphp3	G	A	9: 103,914,575 (GRCm39)	R1052H	probably benign	Het
Nynrin	G	A	14: 56,109,524 (GRCm39)	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Or9m1	G	A	2: 87,733,819 (GRCm39)	S67F	probably damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,034,780 (GRCm39)	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,826,402 (GRCm39)		probably null	Het
Prss16	T	C	13: 22,193,579 (GRCm39)	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,772,092 (GRCm39)	K33E	probably benign	Het
Rabepk	A	T	2: 34,685,246 (GRCm39)	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 76,020,484 (GRCm39)	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scap	T	C	9: 110,210,661 (GRCm39)	C998R	probably damaging	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sf3a2	G	T	10: 80,638,663 (GRCm39)	A95S	probably benign	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,801,587 (GRCm39)	C9S	possibly damaging	Het
Snap91	T	C	9: 86,680,624 (GRCm39)	T427A	probably benign	Het
St3gal6	A	G	16: 58,293,897 (GRCm39)	F211L	probably damaging	Het
Stab1	G	A	14: 30,883,837 (GRCm39)	S240F	probably benign	Het
Sun3	T	A	11: 8,973,371 (GRCm39)	K109*	probably null	Het
Syne1	T	C	10: 4,991,484 (GRCm39)	N8410S	probably benign	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Tmem135	T	C	7: 88,803,282 (GRCm39)	N297S	probably damaging	Het
Tnk1	C	T	11: 69,746,017 (GRCm39)		probably null	Het
Txnl4b	A	G	8: 110,295,551 (GRCm39)		probably benign	Het
Uck1	T	C	2: 32,148,315 (GRCm39)	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,560,822 (GRCm39)	V239M	possibly damaging	Het
Zmpste24	T	C	4: 120,955,162 (GRCm39)	D12G	probably benign	Het
Zscan25	A	G	5: 145,220,502 (GRCm39)	Y99C	probably damaging	Het

Other mutations in Sel1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Sel1l2	APN	2	140,085,864 (GRCm39)	missense	possibly damaging	0.95
IGL01782:Sel1l2	APN	2	140,085,855 (GRCm39)	missense	probably damaging	1.00
IGL02238:Sel1l2	APN	2	140,089,859 (GRCm39)	missense	probably damaging	1.00
IGL02506:Sel1l2	APN	2	140,117,380 (GRCm39)	missense	possibly damaging	0.89
IGL02539:Sel1l2	APN	2	140,072,778 (GRCm39)	missense	probably damaging	1.00
IGL02999:Sel1l2	APN	2	140,072,724 (GRCm39)	missense	probably damaging	1.00
IGL03388:Sel1l2	APN	2	140,105,284 (GRCm39)	splice site	probably benign
IGL02988:Sel1l2	UTSW	2	140,090,508 (GRCm39)	missense	probably damaging	1.00
R0386:Sel1l2	UTSW	2	140,117,361 (GRCm39)	missense	probably benign	0.11
R0426:Sel1l2	UTSW	2	140,082,832 (GRCm39)	nonsense	probably null
R0549:Sel1l2	UTSW	2	140,107,802 (GRCm39)	missense	probably damaging	0.99
R1404:Sel1l2	UTSW	2	140,071,979 (GRCm39)	splice site	probably benign
R1502:Sel1l2	UTSW	2	140,231,515 (GRCm39)	missense	probably damaging	0.99
R1746:Sel1l2	UTSW	2	140,127,157 (GRCm39)	missense	probably damaging	0.98
R2187:Sel1l2	UTSW	2	140,072,793 (GRCm39)	missense	probably damaging	1.00
R2235:Sel1l2	UTSW	2	140,086,085 (GRCm39)	missense	probably damaging	1.00
R3402:Sel1l2	UTSW	2	140,082,958 (GRCm39)	missense	probably damaging	1.00
R4717:Sel1l2	UTSW	2	140,071,943 (GRCm39)	missense	possibly damaging	0.89
R4724:Sel1l2	UTSW	2	140,082,847 (GRCm39)	missense	probably damaging	0.99
R4840:Sel1l2	UTSW	2	140,105,390 (GRCm39)	missense	probably benign	0.00
R4948:Sel1l2	UTSW	2	140,086,086 (GRCm39)	missense	probably damaging	1.00
R6008:Sel1l2	UTSW	2	140,086,025 (GRCm39)	missense	probably damaging	1.00
R6058:Sel1l2	UTSW	2	140,082,889 (GRCm39)	missense	possibly damaging	0.94
R6389:Sel1l2	UTSW	2	140,087,274 (GRCm39)	missense	probably damaging	1.00
R7031:Sel1l2	UTSW	2	140,182,043 (GRCm39)	missense	possibly damaging	0.84
R7056:Sel1l2	UTSW	2	140,087,334 (GRCm39)	missense	probably benign	0.13
R7074:Sel1l2	UTSW	2	140,105,362 (GRCm39)	missense	probably damaging	1.00
R7213:Sel1l2	UTSW	2	140,086,055 (GRCm39)	missense	probably damaging	1.00
R7348:Sel1l2	UTSW	2	140,107,644 (GRCm39)	missense	probably benign
R8030:Sel1l2	UTSW	2	140,082,938 (GRCm39)	missense	probably damaging	0.97
R8100:Sel1l2	UTSW	2	140,117,329 (GRCm39)	missense	probably damaging	1.00
R8165:Sel1l2	UTSW	2	140,104,626 (GRCm39)	missense	probably damaging	1.00
R8201:Sel1l2	UTSW	2	140,108,312 (GRCm39)	missense	probably damaging	1.00
R8343:Sel1l2	UTSW	2	140,072,753 (GRCm39)	missense	probably benign	0.03
R8968:Sel1l2	UTSW	2	140,127,209 (GRCm39)	missense	probably benign	0.14
R9038:Sel1l2	UTSW	2	140,117,384 (GRCm39)	missense	probably damaging	1.00
R9226:Sel1l2	UTSW	2	140,097,222 (GRCm39)	missense	probably damaging	1.00
X0019:Sel1l2	UTSW	2	140,090,535 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGGTTCCATAGCAGAAGTG -3'
(R):5'- GAAGTCCACAGGGCAGTATG -3'

Sequencing Primer
(F):5'- GGATACAACTTCTCTTTCCCCAG -3'
(R):5'- TGTGGGATGACGCTAACTAACCTC -3'

Posted On

2014-10-15