Mutagenetix > Incidental Mutation

Incidental Mutation 'R2246:Shisal1'

240877

Institutional Source

Beutler Lab

Gene Symbol

Shisal1

Ensembl Gene

ENSMUSG00000062760

Gene Name

shisa like 1

Synonyms

1810041L15Rik

MMRRC Submission

040246-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R2246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84263404-84331298 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84301400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 81 (H81L)

Ref Sequence

ENSEMBL: ENSMUSP00000141117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080751] [ENSMUST00000186527] [ENSMUST00000189248] [ENSMUST00000189994]

AlphaFold

Q0VBP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000080751
AA Change: H61L

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

SMART Domains

Protein: ENSMUSP00000079575
Gene: ENSMUSG00000062760
AA Change: H61L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
low complexity region	152	178	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186527

Predicted Effect

probably damaging
Transcript: ENSMUST00000189248
AA Change: H81L

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

SMART Domains

Protein: ENSMUSP00000141117
Gene: ENSMUSG00000062760
AA Change: H81L

Domain	Start	End	E-Value	Type
transmembrane domain	31	50	N/A	INTRINSIC
transmembrane domain	119	141	N/A	INTRINSIC
low complexity region	172	198	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189994
AA Change: H61L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140712
Gene: ENSMUSG00000062760
AA Change: H61L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	G	6: 85,599,949 (GRCm39)	S1592A	possibly damaging	Het
Anapc16	G	T	10: 59,832,298 (GRCm39)	Y38*	probably null	Het
Clec7a	T	A	6: 129,444,532 (GRCm39)	H101L	probably benign	Het
Cwf19l2	A	G	9: 3,430,661 (GRCm39)	D331G	probably benign	Het
Dcaf1	A	G	9: 106,731,376 (GRCm39)	T618A	possibly damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Fn1	A	T	1: 71,667,694 (GRCm39)	D766E	probably benign	Het
Ggta1	T	C	2: 35,292,121 (GRCm39)	*395W	probably null	Het
Grik2	C	T	10: 49,411,532 (GRCm39)	R202H	probably damaging	Het
Hcls1	G	T	16: 36,782,984 (GRCm39)	S445I	probably damaging	Het
Hip1	A	C	5: 135,481,698 (GRCm39)	S166R	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igsf9	T	A	1: 172,319,216 (GRCm39)	S236R	probably benign	Het
Knl1	C	T	2: 118,902,708 (GRCm39)	P1470S	probably damaging	Het
Ldb3	A	T	14: 34,251,432 (GRCm39)	H675Q	probably damaging	Het
Or10ab4	C	T	7: 107,654,989 (GRCm39)	R267C	probably benign	Het
Or10ag57	T	A	2: 87,218,195 (GRCm39)	S49T	probably benign	Het
Or6c3b	A	G	10: 129,527,812 (GRCm39)	Y33H	probably damaging	Het
Palld	T	C	8: 62,330,169 (GRCm39)	D236G	probably benign	Het
Pank3	A	G	11: 35,674,333 (GRCm39)	K332R	probably benign	Het
Phaf1	T	A	8: 105,973,132 (GRCm39)	D247E	possibly damaging	Het
Pramel11	A	G	4: 143,623,790 (GRCm39)	V128A	probably benign	Het
Prrc2c	A	G	1: 162,535,360 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,265,638 (GRCm39)	G473S	probably damaging	Het
Slc15a2	A	T	16: 36,582,723 (GRCm39)	Y222N	probably damaging	Het
Slc38a7	A	T	8: 96,570,468 (GRCm39)	M269K	probably damaging	Het
Srrd	A	T	5: 112,487,622 (GRCm39)	L159H	probably damaging	Het
Tap2	C	A	17: 34,427,775 (GRCm39)	S218Y	possibly damaging	Het
Tex15	G	A	8: 34,072,540 (GRCm39)	V2696I	possibly damaging	Het
Tmem67	G	A	4: 12,040,651 (GRCm39)	T1030I	probably damaging	Het
Traf5	T	C	1: 191,751,190 (GRCm39)		probably null	Het
Try4	C	T	6: 41,282,406 (GRCm39)	T242I	possibly damaging	Het
Ubqln3	C	T	7: 103,791,518 (GRCm39)	V191I	probably damaging	Het
Vmn2r67	T	C	7: 84,785,764 (GRCm39)	Y747C	probably damaging	Het
Wipf3	C	T	6: 54,466,058 (GRCm39)	P439S	probably damaging	Het
Zbed5	A	T	5: 129,931,592 (GRCm39)	M514L	probably benign	Het
Zfp592	A	G	7: 80,691,361 (GRCm39)	D1180G	possibly damaging	Het
Zfyve9	A	T	4: 108,546,461 (GRCm39)	D790E	possibly damaging	Het
Zkscan16	A	G	4: 58,957,329 (GRCm39)	K537R	probably benign	Het

Other mutations in Shisal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01887:Shisal1	APN	15	84,290,851 (GRCm39)	missense	probably damaging	1.00
IGL02381:Shisal1	APN	15	84,290,654 (GRCm39)	missense	probably damaging	1.00
IGL02826:Shisal1	APN	15	84,304,330 (GRCm39)	splice site	probably benign
R1604:Shisal1	UTSW	15	84,290,672 (GRCm39)	missense	probably benign	0.01
R1823:Shisal1	UTSW	15	84,290,669 (GRCm39)	missense	probably benign	0.00
R3771:Shisal1	UTSW	15	84,290,886 (GRCm39)	nonsense	probably null
R3772:Shisal1	UTSW	15	84,290,886 (GRCm39)	nonsense	probably null
R3773:Shisal1	UTSW	15	84,290,886 (GRCm39)	nonsense	probably null
R4805:Shisal1	UTSW	15	84,301,397 (GRCm39)	missense	probably damaging	1.00
R5070:Shisal1	UTSW	15	84,304,364 (GRCm39)	missense	possibly damaging	0.56
R5114:Shisal1	UTSW	15	84,301,427 (GRCm39)	missense	probably damaging	1.00
R5491:Shisal1	UTSW	15	84,290,711 (GRCm39)	missense	probably benign	0.00
R7567:Shisal1	UTSW	15	84,290,914 (GRCm39)	missense	probably benign	0.00
R8715:Shisal1	UTSW	15	84,301,346 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATTACCTCCTTGCATGTGC -3'
(R):5'- ACCCTGAAGAATTCCTAGGGG -3'

Sequencing Primer
(F):5'- TGCTGTCTGGAGCATGCC -3'
(R):5'- TGTAGGACCCTGGAGCTG -3'

Posted On

2014-10-15