Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01631:Pramel31'

93453

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel31

Ensembl Gene

ENSMUSG00000070619

Gene Name

PRAME like 31

Synonyms

Gm13119

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01631

Quality Score

Status

Chromosome

Chromosomal Location

144084534-144090989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144089015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 111 (H111R)

Ref Sequence

ENSEMBL: ENSMUSP00000092103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094526]

AlphaFold

B1ARV5

Predicted Effect

probably benign
Transcript: ENSMUST00000094526
AA Change: H111R

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: H111R

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	414	3e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	A	2: 102,904,194 (GRCm39)		probably benign	Het
Arid4a	C	T	12: 71,069,036 (GRCm39)		probably benign	Het
Brwd1	C	A	16: 95,847,666 (GRCm39)	E98D	probably damaging	Het
Cactin	A	G	10: 81,159,058 (GRCm39)	E303G	probably benign	Het
Ccdc181	T	A	1: 164,107,713 (GRCm39)	I132K	possibly damaging	Het
Celsr3	A	G	9: 108,714,603 (GRCm39)	H1995R	probably benign	Het
Cog4	A	G	8: 111,608,472 (GRCm39)	E756G	probably damaging	Het
Ctsf	T	C	19: 4,908,106 (GRCm39)	L217P	probably damaging	Het
Dmp1	G	T	5: 104,360,734 (GRCm39)	R470L	probably benign	Het
Dnajc9	T	C	14: 20,438,176 (GRCm39)	D142G	probably benign	Het
Ednrb	T	A	14: 104,080,661 (GRCm39)	R84S	probably benign	Het
Gm1110	A	T	9: 26,809,212 (GRCm39)		probably null	Het
Has2	A	G	15: 56,545,072 (GRCm39)	S177P	possibly damaging	Het
Herc6	C	T	6: 57,581,092 (GRCm39)	S264F	probably benign	Het
Il1rl2	T	A	1: 40,395,974 (GRCm39)		probably null	Het
Ltbp2	A	G	12: 84,855,920 (GRCm39)		probably null	Het
Map4	A	G	9: 109,892,201 (GRCm39)		probably benign	Het
Marchf4	T	A	1: 72,491,690 (GRCm39)	K194*	probably null	Het
Megf10	A	G	18: 57,392,869 (GRCm39)	D422G	possibly damaging	Het
Mfsd2a	C	A	4: 122,843,100 (GRCm39)	A394S	probably benign	Het
Mmp27	T	C	9: 7,573,289 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,161,560 (GRCm39)	Y370H	possibly damaging	Het
Or4a81	T	C	2: 89,619,129 (GRCm39)	D189G	probably damaging	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Ptk2	G	A	15: 73,088,220 (GRCm39)	H859Y	probably damaging	Het
Ptprq	T	A	10: 107,479,399 (GRCm39)	E1209D	probably benign	Het
Rhot1	C	T	11: 80,156,600 (GRCm39)	T636M	probably damaging	Het
Ripk2	C	A	4: 16,163,342 (GRCm39)	A19S	possibly damaging	Het
Rsbn1l	G	A	5: 21,101,569 (GRCm39)	S657L	probably damaging	Het
Rsbn1l	A	T	5: 21,101,570 (GRCm39)	S657T	probably damaging	Het
Sema6c	A	G	3: 95,077,714 (GRCm39)	T450A	probably benign	Het
Slc25a1	C	T	16: 17,743,930 (GRCm39)	C262Y	probably damaging	Het
Slfn3	T	C	11: 83,104,361 (GRCm39)	S288P	probably damaging	Het
Snrnp200	T	A	2: 127,080,744 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,724,495 (GRCm39)	I228M	probably damaging	Het
Ssu2	T	C	6: 112,351,843 (GRCm39)	Y294C	probably damaging	Het
Terb1	A	G	8: 105,199,496 (GRCm39)	S483P	probably damaging	Het
Tsga13	T	C	6: 30,890,501 (GRCm39)	K8E	possibly damaging	Het
Zbbx	T	G	3: 74,985,984 (GRCm39)	D351A	probably damaging	Het
Zfp454	G	T	11: 50,774,562 (GRCm39)	A37D	probably benign	Het

Other mutations in Pramel31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Pramel31	APN	4	144,089,100 (GRCm39)	missense	possibly damaging	0.91
IGL00485:Pramel31	APN	4	144,090,012 (GRCm39)	missense	probably damaging	0.99
IGL01025:Pramel31	APN	4	144,089,947 (GRCm39)	missense	probably damaging	1.00
IGL01102:Pramel31	APN	4	144,090,195 (GRCm39)	missense	probably benign	0.08
IGL02228:Pramel31	APN	4	144,089,231 (GRCm39)	missense	probably damaging	1.00
IGL02708:Pramel31	APN	4	144,089,983 (GRCm39)	missense	probably damaging	1.00
IGL02827:Pramel31	APN	4	144,090,331 (GRCm39)	missense	probably damaging	1.00
IGL03398:Pramel31	APN	4	144,090,061 (GRCm39)	missense	probably damaging	1.00
R0403:Pramel31	UTSW	4	144,089,216 (GRCm39)	missense	probably benign	0.00
R0627:Pramel31	UTSW	4	144,089,416 (GRCm39)	missense	probably benign	0.03
R0632:Pramel31	UTSW	4	144,090,352 (GRCm39)	missense	probably damaging	1.00
R1783:Pramel31	UTSW	4	144,088,295 (GRCm39)	missense	probably benign	0.01
R1895:Pramel31	UTSW	4	144,088,435 (GRCm39)	missense	probably benign	0.11
R1946:Pramel31	UTSW	4	144,088,435 (GRCm39)	missense	probably benign	0.11
R2263:Pramel31	UTSW	4	144,090,111 (GRCm39)	missense	probably benign	0.00
R2389:Pramel31	UTSW	4	144,089,983 (GRCm39)	missense	probably damaging	1.00
R2435:Pramel31	UTSW	4	144,089,473 (GRCm39)	missense	possibly damaging	0.75
R3013:Pramel31	UTSW	4	144,089,025 (GRCm39)	missense	probably damaging	0.98
R3021:Pramel31	UTSW	4	144,088,369 (GRCm39)	missense	probably damaging	0.99
R3106:Pramel31	UTSW	4	144,088,246 (GRCm39)	missense	probably benign	0.04
R5237:Pramel31	UTSW	4	144,089,041 (GRCm39)	nonsense	probably null
R5411:Pramel31	UTSW	4	144,088,207 (GRCm39)	start codon destroyed	probably null	1.00
R5532:Pramel31	UTSW	4	144,090,061 (GRCm39)	missense	probably damaging	1.00
R6229:Pramel31	UTSW	4	144,090,199 (GRCm39)	missense	probably benign	0.03
R6277:Pramel31	UTSW	4	144,090,223 (GRCm39)	missense	probably damaging	1.00
R6625:Pramel31	UTSW	4	144,090,369 (GRCm39)	missense	probably damaging	1.00
R6717:Pramel31	UTSW	4	144,089,227 (GRCm39)	missense	probably benign	0.00
R7103:Pramel31	UTSW	4	144,090,297 (GRCm39)	missense	probably benign	0.00
R7207:Pramel31	UTSW	4	144,088,473 (GRCm39)	missense	probably benign	0.08
R8934:Pramel31	UTSW	4	144,090,345 (GRCm39)	missense	possibly damaging	0.54
R9325:Pramel31	UTSW	4	144,089,093 (GRCm39)	missense	probably benign
R9411:Pramel31	UTSW	4	144,089,997 (GRCm39)	missense	probably benign	0.00
Z1177:Pramel31	UTSW	4	144,089,543 (GRCm39)	missense	possibly damaging	0.89

Posted On

2013-12-09