Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01075:Pramel26'

50860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel26

Ensembl Gene

ENSMUSG00000059218

Gene Name

PRAME like 26

Synonyms

Gm13084

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01075

Quality Score

Status

Chromosome

Chromosomal Location

143535817-143542663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143538216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 252 (T252A)

Ref Sequence

ENSEMBL: ENSMUSP00000101395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075045] [ENSMUST00000105769]

AlphaFold

A2A8N0

Predicted Effect

probably benign
Transcript: ENSMUST00000075045
AA Change: T252A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000074557
Gene: ENSMUSG00000059218
AA Change: T252A

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	409	9e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105769
AA Change: T252A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101395
Gene: ENSMUSG00000059218
AA Change: T252A

Domain	Start	End	E-Value	Type
low complexity region	223	238	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137635

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,862,924 (GRCm39)	T700A	possibly damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Chd3	T	C	11: 69,250,791 (GRCm39)	D646G	probably damaging	Het
Esf1	A	G	2: 139,962,665 (GRCm39)	V802A	probably benign	Het
Hdac6	T	C	X: 7,802,691 (GRCm39)		probably null	Het
Il1rap	A	C	16: 26,498,987 (GRCm39)	N162T	possibly damaging	Het
Mpdu1	T	C	11: 69,548,151 (GRCm39)	T208A	probably damaging	Het
Mrpl51	T	C	6: 125,169,566 (GRCm39)	V56A	probably benign	Het
Myadm	A	C	7: 3,345,762 (GRCm39)	T175P	probably damaging	Het
Nek1	C	A	8: 61,577,166 (GRCm39)	T1077K	possibly damaging	Het
Or5w20	A	G	2: 87,727,265 (GRCm39)	T249A	probably benign	Het
Pcnt	G	A	10: 76,258,738 (GRCm39)	Q576*	probably null	Het
Tchhl1	A	T	3: 93,377,623 (GRCm39)	D109V	probably damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tns3	G	A	11: 8,428,399 (GRCm39)	P848S	probably benign	Het
Ttc4	T	C	4: 106,528,845 (GRCm39)	I209M	probably benign	Het
Zfp536	A	T	7: 37,267,315 (GRCm39)	S700R	probably damaging	Het

Other mutations in Pramel26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Pramel26	APN	4	143,539,293 (GRCm39)	missense	probably benign	0.32
IGL02705:Pramel26	APN	4	143,537,372 (GRCm39)	missense	probably damaging	1.00
IGL03011:Pramel26	APN	4	143,538,330 (GRCm39)	missense	possibly damaging	0.95
PIT4498001:Pramel26	UTSW	4	143,539,406 (GRCm39)	missense	possibly damaging	0.63
R0268:Pramel26	UTSW	4	143,537,338 (GRCm39)	missense	probably damaging	1.00
R0344:Pramel26	UTSW	4	143,537,338 (GRCm39)	missense	probably damaging	1.00
R0390:Pramel26	UTSW	4	143,538,269 (GRCm39)	missense	probably benign	0.09
R0597:Pramel26	UTSW	4	143,539,222 (GRCm39)	missense	probably damaging	0.98
R0646:Pramel26	UTSW	4	143,539,155 (GRCm39)	missense	possibly damaging	0.83
R0927:Pramel26	UTSW	4	143,539,378 (GRCm39)	missense	probably benign	0.05
R0973:Pramel26	UTSW	4	143,538,428 (GRCm39)	missense	probably damaging	1.00
R1851:Pramel26	UTSW	4	143,539,396 (GRCm39)	missense	probably benign	0.33
R1852:Pramel26	UTSW	4	143,539,396 (GRCm39)	missense	probably benign	0.33
R3699:Pramel26	UTSW	4	143,536,922 (GRCm39)	missense	probably benign	0.05
R3705:Pramel26	UTSW	4	143,538,345 (GRCm39)	missense	probably benign	0.06
R3845:Pramel26	UTSW	4	143,538,545 (GRCm39)	missense	probably damaging	0.96
R4035:Pramel26	UTSW	4	143,537,026 (GRCm39)	missense	probably benign	0.08
R4044:Pramel26	UTSW	4	143,538,170 (GRCm39)	missense	probably benign	0.34
R4439:Pramel26	UTSW	4	143,538,143 (GRCm39)	missense	possibly damaging	0.49
R4660:Pramel26	UTSW	4	143,538,435 (GRCm39)	missense	probably benign	0.19
R4770:Pramel26	UTSW	4	143,538,519 (GRCm39)	missense	probably damaging	0.96
R4838:Pramel26	UTSW	4	143,537,375 (GRCm39)	nonsense	probably null
R5534:Pramel26	UTSW	4	143,539,169 (GRCm39)	nonsense	probably null
R5691:Pramel26	UTSW	4	143,538,579 (GRCm39)	missense	probably benign	0.44
R5893:Pramel26	UTSW	4	143,537,038 (GRCm39)	missense	probably damaging	1.00
R6123:Pramel26	UTSW	4	143,539,334 (GRCm39)	missense	possibly damaging	0.89
R6285:Pramel26	UTSW	4	143,542,609 (GRCm39)	missense	probably damaging	1.00
R6886:Pramel26	UTSW	4	143,539,332 (GRCm39)	missense	probably benign	0.29
R7105:Pramel26	UTSW	4	143,537,341 (GRCm39)	missense	probably benign	0.04
R7135:Pramel26	UTSW	4	143,537,233 (GRCm39)	missense	probably damaging	1.00
R7474:Pramel26	UTSW	4	143,538,269 (GRCm39)	missense	probably benign	0.03
R7594:Pramel26	UTSW	4	143,539,286 (GRCm39)	missense	probably damaging	0.99
R7610:Pramel26	UTSW	4	143,539,436 (GRCm39)	missense	probably damaging	1.00
R7635:Pramel26	UTSW	4	143,536,987 (GRCm39)	missense	probably damaging	1.00
R7682:Pramel26	UTSW	4	143,537,290 (GRCm39)	missense	probably benign	0.38
R7986:Pramel26	UTSW	4	143,538,590 (GRCm39)	nonsense	probably null
R8222:Pramel26	UTSW	4	143,536,893 (GRCm39)	missense	possibly damaging	0.61
R8328:Pramel26	UTSW	4	143,537,380 (GRCm39)	missense	probably damaging	1.00
R8678:Pramel26	UTSW	4	143,538,576 (GRCm39)	missense	probably benign	0.21
R8887:Pramel26	UTSW	4	143,539,257 (GRCm39)	missense	probably damaging	0.99
R8942:Pramel26	UTSW	4	143,536,861 (GRCm39)	missense	probably benign	0.00
R9219:Pramel26	UTSW	4	143,537,303 (GRCm39)	missense	probably benign	0.02
R9291:Pramel26	UTSW	4	143,539,251 (GRCm39)	missense	probably benign	0.13
R9649:Pramel26	UTSW	4	143,542,609 (GRCm39)	missense	probably damaging	1.00
R9746:Pramel26	UTSW	4	143,536,886 (GRCm39)	missense	probably benign	0.24
Z1177:Pramel26	UTSW	4	143,538,588 (GRCm39)	missense	probably benign	0.17

Posted On

2013-06-21