Mutagenetix > Incidental Mutation

Incidental Mutation 'R9179:Ppan'

696901

Institutional Source

Beutler Lab

Gene Symbol

Ppan

Ensembl Gene

ENSMUSG00000004100

Gene Name

peter pan homolog

Synonyms

A230087P06Rik, SSF1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R9179 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20799471-20803474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20803199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 424 (Q424K)

Ref Sequence

ENSEMBL: ENSMUSP00000004203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004203] [ENSMUST00000004206] [ENSMUST00000214331]

AlphaFold

Q91YU8

Predicted Effect

probably benign
Transcript: ENSMUST00000004203
AA Change: Q424K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000004203
Gene: ENSMUSG00000004100
AA Change: Q424K

Domain	Start	End	E-Value	Type
Brix	32	286	1.13e-77	SMART
Blast:Brix	321	429	6e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000004206

SMART Domains

Protein: ENSMUSP00000004206
Gene: ENSMUSG00000070319

Domain	Start	End	E-Value	Type
Pfam:eIF3g	56	175	5.5e-45	PFAM
RRM	240	313	1.49e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000214331

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	A	6: 124,333,882 (GRCm39)	M33L	probably benign	Het
2310003L06Rik	A	G	5: 88,119,890 (GRCm39)	T216A	probably benign	Het
9330161L09Rik	A	C	12: 103,373,837 (GRCm39)	C12G	unknown	Het
Ahdc1	T	A	4: 132,788,929 (GRCm39)	F57I	possibly damaging	Het
Amotl1	C	A	9: 14,461,787 (GRCm39)	A809S	possibly damaging	Het
Ankfn1	C	T	11: 89,414,011 (GRCm39)	M121I	probably benign	Het
Aspm	A	G	1: 139,404,453 (GRCm39)	D1261G	probably damaging	Het
Axl	T	C	7: 25,469,658 (GRCm39)	T502A	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Ccdc102a	A	G	8: 95,639,748 (GRCm39)	V182A	possibly damaging	Het
Cdh23	C	T	10: 60,153,664 (GRCm39)	A2309T	probably benign	Het
Cfap69	A	T	5: 5,676,064 (GRCm39)	N210K	probably benign	Het
Cnot1	A	G	8: 96,500,054 (GRCm39)	S147P	probably benign	Het
Cntnap5c	T	C	17: 58,600,912 (GRCm39)	S752P	probably benign	Het
Cyp3a41a	A	T	5: 145,642,654 (GRCm39)	M235K	probably benign	Het
Cyp4f15	A	G	17: 32,919,185 (GRCm39)	D336G	possibly damaging	Het
Dagla	A	G	19: 10,228,525 (GRCm39)	I631T	possibly damaging	Het
Dph6	C	T	2: 114,353,591 (GRCm39)	C199Y	probably damaging	Het
Ermard	T	A	17: 15,273,495 (GRCm39)	L360Q	probably damaging	Het
F830045P16Rik	T	C	2: 129,314,708 (GRCm39)	T190A	probably benign	Het
Fgfr3	G	T	5: 33,887,316 (GRCm39)	V212L	possibly damaging	Het
Flnb	C	A	14: 7,887,541 (GRCm38)	C450*	probably null	Het
Gls	T	C	1: 52,239,015 (GRCm39)	Y362C	probably damaging	Het
Gngt1	A	G	6: 3,994,246 (GRCm39)	D8G	possibly damaging	Het
Gns	T	C	10: 121,216,080 (GRCm39)	F276L		Het
Grin2d	A	G	7: 45,506,176 (GRCm39)	S572P	probably damaging	Het
Impa2	C	T	18: 67,422,473 (GRCm39)		probably benign	Het
Itgal	A	T	7: 126,905,883 (GRCm39)	D355V	probably benign	Het
Kdm6b	A	T	11: 69,297,521 (GRCm39)		probably null	Het
Klk1b1	T	A	7: 43,618,715 (GRCm39)	C31S	probably damaging	Het
Ldb3	A	T	14: 34,277,312 (GRCm39)	V354E	probably benign	Het
Mettl21c	T	A	1: 44,049,142 (GRCm39)	Y135F	probably benign	Het
Mocs1	A	G	17: 49,740,303 (GRCm39)	T77A	probably damaging	Het
Ndufs1	T	C	1: 63,209,274 (GRCm39)	N30D	probably benign	Het
Or1j11	T	C	2: 36,312,126 (GRCm39)	S239P	probably damaging	Het
Or4a71	T	A	2: 89,358,494 (GRCm39)	K87*	probably null	Het
Otog	C	A	7: 45,937,885 (GRCm39)	P1865T	possibly damaging	Het
Pabpc1l	T	C	2: 163,873,140 (GRCm39)	S137P	probably damaging	Het
Pilrb1	C	A	5: 137,855,657 (GRCm39)	W78L	probably damaging	Het
Plekha6	A	G	1: 133,214,085 (GRCm39)	Y832C	possibly damaging	Het
Ppp1r12a	T	A	10: 108,087,782 (GRCm39)	N544K	probably damaging	Het
Pramel16	T	C	4: 143,676,294 (GRCm39)	E270G	probably benign	Het
Pstpip2	A	G	18: 77,961,155 (GRCm39)	D246G	possibly damaging	Het
Rasef	G	A	4: 73,662,356 (GRCm39)	T198I	probably damaging	Het
Rbm12	T	C	2: 155,938,463 (GRCm39)	H603R	probably benign	Het
Rims1	T	C	1: 22,482,490 (GRCm39)	R179G	probably damaging	Het
Scel	T	C	14: 103,811,836 (GRCm39)	L288P	possibly damaging	Het
Sel1l	A	T	12: 91,778,726 (GRCm39)	D696E	probably benign	Het
Slc4a8	A	G	15: 100,689,482 (GRCm39)	K416R	possibly damaging	Het
Tmem132b	A	T	5: 125,700,115 (GRCm39)	M218L	probably benign	Het
Tnrc6a	T	C	7: 122,791,881 (GRCm39)	S1800P	probably benign	Het
Tpcn1	A	C	5: 120,680,015 (GRCm39)	L576R	probably damaging	Het
Vmn2r34	T	G	7: 7,675,723 (GRCm39)	Q555P	possibly damaging	Het
Vwa8	C	T	14: 79,335,801 (GRCm39)	T1419I	probably benign	Het
Xrn2	T	C	2: 146,855,081 (GRCm39)	Y14H	probably benign	Het
Zfp1007	A	G	5: 109,823,708 (GRCm39)	C581R	probably damaging	Het
Zfyve28	A	T	5: 34,382,376 (GRCm39)	D241E	probably benign	Het

Other mutations in Ppan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01910:Ppan	APN	9	20,802,232 (GRCm39)	missense	probably damaging	1.00
IGL03162:Ppan	APN	9	20,802,608 (GRCm39)	missense	probably damaging	1.00
R0279:Ppan	UTSW	9	20,802,825 (GRCm39)	missense	probably benign	0.01
R1382:Ppan	UTSW	9	20,803,214 (GRCm39)	missense	probably benign	0.08
R4406:Ppan	UTSW	9	20,802,288 (GRCm39)	missense	probably damaging	1.00
R4724:Ppan	UTSW	9	20,799,806 (GRCm39)	missense	probably benign	0.04
R5217:Ppan	UTSW	9	20,802,221 (GRCm39)	missense	possibly damaging	0.46
R5275:Ppan	UTSW	9	20,801,069 (GRCm39)	nonsense	probably null
R5946:Ppan	UTSW	9	20,800,969 (GRCm39)	nonsense	probably null
R6540:Ppan	UTSW	9	20,802,506 (GRCm39)	splice site	probably null
R7131:Ppan	UTSW	9	20,802,450 (GRCm39)	missense	possibly damaging	0.94
R7227:Ppan	UTSW	9	20,799,496 (GRCm39)	unclassified	probably benign
R7419:Ppan	UTSW	9	20,803,140 (GRCm39)	missense	probably benign	0.03
R7883:Ppan	UTSW	9	20,802,777 (GRCm39)	missense	probably benign	0.24
R9357:Ppan	UTSW	9	20,801,220 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TGAGTATTTCCGCCAGGCTG -3'
(R):5'- AAACCGGACTGCACTGGATC -3'

Sequencing Primer
(F):5'- GTGGGGGAGGAGCCTGAC -3'
(R):5'- AATCTGGGGCATCCATAGTCC -3'

Posted On

2022-02-07