Mutagenetix > Incidental Mutation

Incidental Mutation 'R6886:Pramel26'

536944

Institutional Source

Beutler Lab

Gene Symbol

Pramel26

Ensembl Gene

ENSMUSG00000059218

Gene Name

PRAME like 26

Synonyms

Gm13084

MMRRC Submission

044980-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6886 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143535817-143542663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143539332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 54 (F54L)

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: F54L

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000074557
Gene: ENSMUSG00000059218
AA Change: F54L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105769
AA Change: F54L

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101395
Gene: ENSMUSG00000059218
AA Change: F54L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	A	T	8: 22,518,706 (GRCm39)	M44K	probably benign	Het
Bad	T	C	19: 6,928,702 (GRCm39)		probably benign	Het
Bbs12	A	G	3: 37,373,390 (GRCm39)	D61G	probably damaging	Het
Bcr	C	T	10: 74,989,769 (GRCm39)	R722C	probably damaging	Het
Carf	C	A	1: 60,175,413 (GRCm39)		probably null	Het
Ccdc181	A	G	1: 164,107,665 (GRCm39)	E116G	probably damaging	Het
Celsr1	A	G	15: 85,915,855 (GRCm39)	V706A	probably benign	Het
Col9a1	T	A	1: 24,224,426 (GRCm39)	S203T	unknown	Het
Ctsl	T	C	13: 64,512,961 (GRCm39)		probably null	Het
Exosc7	A	T	9: 122,965,023 (GRCm39)	E277D	probably benign	Het
Fam20b	A	T	1: 156,518,081 (GRCm39)	W238R	probably damaging	Het
Fanci	A	T	7: 79,070,090 (GRCm39)	H430L	possibly damaging	Het
Fstl4	A	G	11: 53,077,277 (GRCm39)	D678G	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,494,151 (GRCm39)		probably benign	Het
Gm11569	T	A	11: 99,689,247 (GRCm39)		probably benign	Het
Igfn1	G	A	1: 135,901,198 (GRCm39)	R306W	probably damaging	Het
Il6	C	T	5: 30,223,201 (GRCm39)		probably benign	Het
Khdc1c	T	C	1: 21,439,749 (GRCm39)	L100P	possibly damaging	Het
Kif18a	G	A	2: 109,127,008 (GRCm39)	R314H	probably damaging	Het
Kif26b	A	C	1: 178,701,703 (GRCm39)	K694T	probably damaging	Het
Kndc1	A	G	7: 139,493,485 (GRCm39)	T484A	probably benign	Het
Lonrf1	T	C	8: 36,696,191 (GRCm39)		probably null	Het
Man1a2	C	T	3: 100,563,387 (GRCm39)	G169D	probably benign	Het
Med6	G	T	12: 81,638,159 (GRCm39)	D17E	probably damaging	Het
Neb	T	C	2: 52,110,236 (GRCm39)	K204R	probably damaging	Het
Nhlrc1	T	A	13: 47,167,252 (GRCm39)	N335I	possibly damaging	Het
Nlrp12	T	C	7: 3,289,313 (GRCm39)	M400V	probably benign	Het
Or7e173	G	T	9: 19,938,428 (GRCm39)	H269N	probably benign	Het
Or8k22	A	T	2: 86,163,408 (GRCm39)	C97*	probably null	Het
Pkhd1	C	T	1: 20,417,504 (GRCm39)	S2549N	probably benign	Het
Rab4b	A	C	7: 26,872,381 (GRCm39)	L145R	probably damaging	Het
Rad50	T	C	11: 53,577,011 (GRCm39)	I526V	probably benign	Het
Rel	T	C	11: 23,694,304 (GRCm39)	H309R	probably benign	Het
Rnf2	G	T	1: 151,349,017 (GRCm39)	N34K	possibly damaging	Het
Serpina3m	G	T	12: 104,355,386 (GRCm39)	V18F	possibly damaging	Het
Serpinb9c	T	C	13: 33,334,310 (GRCm39)	K244R	probably benign	Het
Setbp1	T	A	18: 78,900,715 (GRCm39)	Y984F	probably damaging	Het
Slc12a5	T	A	2: 164,824,825 (GRCm39)	M410K	probably benign	Het
Smarca4	C	T	9: 21,570,127 (GRCm39)	A710V	probably damaging	Het
Snx19	C	A	9: 30,340,231 (GRCm39)	D456E	probably damaging	Het
Ssrp1	T	A	2: 84,870,280 (GRCm39)	D101E	probably benign	Het
Tax1bp1	A	T	6: 52,710,208 (GRCm39)	E162D	probably benign	Het
Tenm4	T	A	7: 96,446,599 (GRCm39)	M823K	possibly damaging	Het
Tesk1	A	G	4: 43,443,592 (GRCm39)	D53G	possibly damaging	Het
Tnrc6a	T	A	7: 122,786,668 (GRCm39)	S1577T	probably benign	Het
Tpr	A	G	1: 150,299,716 (GRCm39)	I1270V	probably benign	Het
Trp53bp2	T	C	1: 182,256,608 (GRCm39)		probably null	Het
Ube4a	A	T	9: 44,860,141 (GRCm39)	I307N	probably damaging	Het
Unc13b	A	G	4: 43,170,156 (GRCm39)		probably benign	Het
Vmn2r3	T	C	3: 64,166,927 (GRCm39)	K735E	probably damaging	Het
Vmn2r54	A	G	7: 12,366,080 (GRCm39)	F285L	probably benign	Het
Vmn2r81	T	G	10: 79,103,988 (GRCm39)	S204A	possibly damaging	Het
Washc1	A	G	17: 66,426,061 (GRCm39)	D453G	probably damaging	Het
Zfp329	T	A	7: 12,544,025 (GRCm39)	I500L	probably benign	Het
Zfp516	A	G	18: 82,975,125 (GRCm39)	D441G	probably benign	Het
Zfp644	T	C	5: 106,785,777 (GRCm39)	T257A	possibly 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
IGL01075:Pramel26	APN	4	143,538,216 (GRCm39)	missense	possibly damaging	0.47
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTACCTGGAAAGAACTGG -3'
(R):5'- TGATCCAAGCCCCATATTTACC -3'

Sequencing Primer
(F):5'- CCCTACCTGGAAAGAACTGGTTTTG -3'
(R):5'- CCTGTCTGGGATAAAAGACTTGC -3'

Posted On

2018-10-18