Mutagenetix > Incidental Mutation

Incidental Mutation 'R8417:AB124611'

653000

Institutional Source

Beutler Lab

Gene Symbol

AB124611

Ensembl Gene

ENSMUSG00000057191

Gene Name

cDNA sequence AB124611

Synonyms

LOC382062, HIDE1

MMRRC Submission

067771-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21437472-21456629 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 21440381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000083547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076326] [ENSMUST00000086361] [ENSMUST00000086361] [ENSMUST00000173769]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000076326

SMART Domains

Protein: ENSMUSP00000075665
Gene: ENSMUSG00000057191

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	33	43	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000086361

SMART Domains

Protein: ENSMUSP00000083547
Gene: ENSMUSG00000057191

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:IG	28	121	1e-12	BLAST
transmembrane domain	127	149	N/A	INTRINSIC
low complexity region	207	222	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000086361

SMART Domains

Protein: ENSMUSP00000083547
Gene: ENSMUSG00000057191

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:IG	28	121	1e-12	BLAST
transmembrane domain	127	149	N/A	INTRINSIC
low complexity region	207	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173769

SMART Domains

Protein: ENSMUSP00000134056
Gene: ENSMUSG00000057191

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:IG	28	121	8e-13	BLAST
low complexity region	177	192	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,074,926 (GRCm39)	D98N	possibly damaging	Het
Adgrb3	T	C	1: 25,527,134 (GRCm39)	T601A	probably benign	Het
Ankrd33	C	A	15: 101,017,330 (GRCm39)	Q248K	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Casp12	G	T	9: 5,352,263 (GRCm39)	C155F	probably benign	Het
Ccn6	T	A	10: 39,027,207 (GRCm39)	R342*	probably null	Het
Clpp	T	C	17: 57,297,661 (GRCm39)	V81A	probably benign	Het
Cyp3a59	A	T	5: 146,027,495 (GRCm39)	I89F	possibly damaging	Het
Fam227b	C	A	2: 125,962,982 (GRCm39)	W178L	probably damaging	Het
Fcna	C	A	2: 25,514,863 (GRCm39)	R332L	probably damaging	Het
Gdf3	T	G	6: 122,583,566 (GRCm39)	H267P	probably damaging	Het
Gm5592	A	G	7: 40,937,975 (GRCm39)	D419G	probably benign	Het
Gm6882	A	G	7: 21,161,220 (GRCm39)	V216A	probably damaging	Het
Gsdma3	A	G	11: 98,520,603 (GRCm39)	N78S	probably benign	Het
Hsd3b9	G	A	3: 98,363,731 (GRCm39)	T38I	probably benign	Het
Hydin	T	C	8: 111,296,024 (GRCm39)	I3579T	probably benign	Het
Ighmbp2	T	C	19: 3,311,590 (GRCm39)	I942V	probably damaging	Het
Lamc1	A	G	1: 153,106,515 (GRCm39)	Y1266H	probably damaging	Het
Lgi3	T	C	14: 70,772,246 (GRCm39)	Y264H	probably benign	Het
Lmod2	G	A	6: 24,603,384 (GRCm39)	E120K	possibly damaging	Het
Mbl2	G	T	19: 30,216,884 (GRCm39)	C232F	probably damaging	Het
Morc1	T	C	16: 48,281,103 (GRCm39)	V214A	probably damaging	Het
Nlrp4b	T	A	7: 10,459,880 (GRCm39)	C827*	probably null	Het
Or12k5	T	A	2: 36,894,658 (GRCm39)	T323S	probably benign	Het
Or5t7	A	G	2: 86,507,149 (GRCm39)	F176S	probably damaging	Het
Pbrm1	T	A	14: 30,749,419 (GRCm39)	H72Q	possibly damaging	Het
Plekhm2	T	C	4: 141,355,136 (GRCm39)	I944V	probably benign	Het
Prdm8	A	T	5: 98,332,390 (GRCm39)	D97V	probably damaging	Het
Preb	G	A	5: 31,117,461 (GRCm39)		probably benign	Het
Prkcd	T	C	14: 30,331,208 (GRCm39)	K56E	probably benign	Het
Slit3	A	T	11: 35,501,438 (GRCm39)	I391F	probably damaging	Het
Spata19	A	G	9: 27,309,266 (GRCm39)	S91G	probably benign	Het
Stag3	A	G	5: 138,306,850 (GRCm39)	T1134A	probably benign	Het
Tgfbr2	A	T	9: 115,939,197 (GRCm39)	M235K	probably benign	Het
Tmtc2	A	T	10: 105,249,097 (GRCm39)	I212N	probably damaging	Het
Tnfrsf26	C	T	7: 143,168,639 (GRCm39)	R133K	probably benign	Het
Trim43c	C	A	9: 88,725,191 (GRCm39)	Q238K	probably benign	Het
Vcan	T	C	13: 89,836,862 (GRCm39)	D2894G	probably benign	Het
Zeb2	C	T	2: 44,913,008 (GRCm39)	S105N	probably damaging	Het

Other mutations in AB124611

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:AB124611	APN	9	21,451,190 (GRCm39)	splice site	probably benign
IGL01566:AB124611	APN	9	21,447,285 (GRCm39)	missense	possibly damaging	0.46
IGL01571:AB124611	APN	9	21,450,377 (GRCm39)	splice site	probably benign
IGL02428:AB124611	APN	9	21,440,221 (GRCm39)	missense	possibly damaging	0.66
R6610:AB124611	UTSW	9	21,437,561 (GRCm39)	start codon destroyed	probably benign	0.01
R7284:AB124611	UTSW	9	21,450,400 (GRCm39)	missense	probably benign	0.27
R7807:AB124611	UTSW	9	21,447,276 (GRCm39)	missense	probably benign
R8300:AB124611	UTSW	9	21,437,561 (GRCm39)	start codon destroyed	probably null	0.01
R8550:AB124611	UTSW	9	21,451,882 (GRCm39)	missense	probably damaging	1.00
R8843:AB124611	UTSW	9	21,440,331 (GRCm39)	missense	probably benign
R9156:AB124611	UTSW	9	21,455,989 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CCTAGGGGCCAATTTTACCCTG -3'
(R):5'- ACACAAAGGCGAGTTCAGCC -3'

Sequencing Primer
(F):5'- AGGTGGTCCAGCTACTACAG -3'
(R):5'- GCGAGTTCAGCCCCAGG -3'

Posted On

2020-10-20