Mutagenetix > Incidental Mutation

Incidental Mutation 'R5379:Proca1'

425765

Institutional Source

Beutler Lab

Gene Symbol

Proca1

Ensembl Gene

ENSMUSG00000044122

Gene Name

protein interacting with cyclin A1

Synonyms

4933404M19Rik

MMRRC Submission

042954-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78084218-78096589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78096092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 154 (S154R)

Ref Sequence

ENSEMBL: ENSMUSP00000086022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002121] [ENSMUST00000060539] [ENSMUST00000078099] [ENSMUST00000108317]

AlphaFold

B0QZF7

Predicted Effect

probably benign
Transcript: ENSMUST00000002121

SMART Domains

Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:SPT6_acidic	37	127	8.8e-19	PFAM
low complexity region	146	164	N/A	INTRINSIC
low complexity region	170	189	N/A	INTRINSIC
low complexity region	192	203	N/A	INTRINSIC
low complexity region	220	250	N/A	INTRINSIC
low complexity region	252	267	N/A	INTRINSIC
Pfam:HTH_44	305	432	1.3e-28	PFAM
low complexity region	494	509	N/A	INTRINSIC
YqgFc	779	894	4.27e-21	SMART
Pfam:HHH_7	935	1038	3.1e-55	PFAM
Pfam:HHH_3	966	1036	5.2e-10	PFAM
Pfam:DLD	1051	1159	6.8e-39	PFAM
S1	1221	1282	2.8e-3	SMART
SH2	1332	1421	4.12e-11	SMART
low complexity region	1441	1454	N/A	INTRINSIC
Blast:SH2	1455	1517	9e-19	BLAST
low complexity region	1586	1599	N/A	INTRINSIC
low complexity region	1639	1664	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000060539

SMART Domains

Protein: ENSMUSP00000050319
Gene: ENSMUSG00000044122

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000078099
AA Change: S154R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000086022
Gene: ENSMUSG00000044122
AA Change: S154R

Domain	Start	End	E-Value	Type
coiled coil region	92	121	N/A	INTRINSIC
low complexity region	148	161	N/A	INTRINSIC
low complexity region	198	212	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108314

Predicted Effect

probably damaging
Transcript: ENSMUST00000108317
AA Change: S241R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103953
Gene: ENSMUSG00000044122
AA Change: S241R

Domain	Start	End	E-Value	Type
Blast:PA2c	33	99	2e-12	BLAST
SCOP:d1poc__	55	102	5e-4	SMART
coiled coil region	179	208	N/A	INTRINSIC
low complexity region	235	248	N/A	INTRINSIC
low complexity region	285	299	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124772

Meta Mutation Damage Score

0.1076

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,096,532 (GRCm39)	L640Q	probably damaging	Het
Afap1l1	T	C	18: 61,891,721 (GRCm39)	E32G	probably damaging	Het
Atp1a1	T	A	3: 101,489,411 (GRCm39)	M734L	probably benign	Het
B4galt6	T	C	18: 20,822,296 (GRCm39)	D294G	probably damaging	Het
Baz1a	T	G	12: 54,941,133 (GRCm39)	D1539A	probably damaging	Het
Bmper	T	A	9: 23,208,520 (GRCm39)	S141T	probably benign	Het
Camkv	T	C	9: 107,822,545 (GRCm39)	V20A	probably damaging	Het
Chst8	A	G	7: 34,375,279 (GRCm39)	Y187H	probably damaging	Het
Coro1c	A	G	5: 113,983,443 (GRCm39)	Y362H	probably damaging	Het
Csmd3	C	A	15: 47,499,846 (GRCm39)	G3008*	probably null	Het
Dnah17	T	C	11: 118,008,029 (GRCm39)		probably benign	Het
Dnajb1	C	T	8: 84,335,135 (GRCm39)	R59C	possibly damaging	Het
Dpf1	A	G	7: 29,003,533 (GRCm39)	K10E	probably benign	Het
Eif5	T	C	12: 111,509,989 (GRCm39)	L311P	probably damaging	Het
Eqtn	A	G	4: 94,795,825 (GRCm39)	F251S	probably damaging	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Farp1	T	C	14: 121,494,169 (GRCm39)	V550A	possibly damaging	Het
Fat2	T	C	11: 55,194,767 (GRCm39)	T1091A	probably damaging	Het
Fbxo33	A	G	12: 59,266,246 (GRCm39)		probably benign	Het
Fndc5	A	T	4: 129,035,887 (GRCm39)	I175F	probably damaging	Het
Gtf2ird2	G	C	5: 134,246,310 (GRCm39)	R856P	probably benign	Het
Hc	A	T	2: 34,881,077 (GRCm39)	F1481I	probably damaging	Het
Helz2	T	A	2: 180,876,862 (GRCm39)	T1211S	probably benign	Het
Hmcn2	G	A	2: 31,299,023 (GRCm39)	V2790M	probably damaging	Het
Ighv1-82	T	C	12: 115,916,297 (GRCm39)	Y71C	probably damaging	Het
Itgam	A	G	7: 127,711,560 (GRCm39)	D725G	probably damaging	Het
Kif9	T	C	9: 110,350,371 (GRCm39)	V754A	probably benign	Het
Larp4b	C	A	13: 9,186,945 (GRCm39)	T91K	probably benign	Het
Mki67	T	C	7: 135,299,190 (GRCm39)	E1948G	possibly damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrgprb13	A	T	7: 47,961,496 (GRCm39)		noncoding transcript	Het
Nlrc4	A	T	17: 74,755,078 (GRCm39)	L46*	probably null	Het
Or13c7c	A	G	4: 43,836,010 (GRCm39)	I160T	probably benign	Het
Or7g21	A	T	9: 19,032,373 (GRCm39)	T38S	probably damaging	Het
Or8d1b	T	C	9: 38,887,151 (GRCm39)	Y60H	possibly damaging	Het
Orm1	A	G	4: 63,264,230 (GRCm39)		probably null	Het
Parva	A	T	7: 112,178,927 (GRCm39)	H311L	probably benign	Het
Pramel25	A	G	4: 143,521,493 (GRCm39)	I370V	probably benign	Het
R3hdm2	T	C	10: 127,307,771 (GRCm39)	V344A	probably damaging	Het
Rabep1	A	T	11: 70,799,247 (GRCm39)	K293N	probably damaging	Het
Ranbp6	A	G	19: 29,789,083 (GRCm39)	V423A	probably damaging	Het
Rnf20	T	A	4: 49,652,639 (GRCm39)	Y711N	possibly damaging	Het
Sf3b1	A	T	1: 55,042,309 (GRCm39)	M498K	possibly damaging	Het
Sin3a	T	C	9: 57,018,272 (GRCm39)	M897T	probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srbd1	A	C	17: 86,308,964 (GRCm39)	I738S	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,072,991 (GRCm39)	V2106A	possibly damaging	Het
Tasor2	T	C	13: 3,638,496 (GRCm39)	R412G	probably benign	Het
Tex47	G	A	5: 7,354,843 (GRCm39)	R8Q	probably null	Het
Trpc7	A	G	13: 56,952,363 (GRCm39)	Y548H	probably damaging	Het
Vmn1r170	A	T	7: 23,306,054 (GRCm39)	H152L	possibly damaging	Het
Zfp184	A	G	13: 22,144,051 (GRCm39)	I586V	probably damaging	Het
Zfp454	T	C	11: 50,774,629 (GRCm39)	T15A	probably damaging	Het

Other mutations in Proca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01806:Proca1	APN	11	78,095,737 (GRCm39)	missense	probably damaging	0.99
IGL01905:Proca1	APN	11	78,095,716 (GRCm39)	missense	probably damaging	0.98
R0396:Proca1	UTSW	11	78,085,731 (GRCm39)	missense	probably damaging	0.96
R0398:Proca1	UTSW	11	78,096,094 (GRCm39)	missense	probably benign	0.00
R0734:Proca1	UTSW	11	78,092,628 (GRCm39)	splice site	probably benign
R0980:Proca1	UTSW	11	78,095,773 (GRCm39)	missense	probably benign	0.00
R1899:Proca1	UTSW	11	78,095,847 (GRCm39)	missense	probably damaging	0.99
R1900:Proca1	UTSW	11	78,095,847 (GRCm39)	missense	probably damaging	0.99
R2183:Proca1	UTSW	11	78,094,975 (GRCm39)	missense	possibly damaging	0.92
R2867:Proca1	UTSW	11	78,095,806 (GRCm39)	missense	probably damaging	0.97
R2867:Proca1	UTSW	11	78,095,806 (GRCm39)	missense	probably damaging	0.97
R4237:Proca1	UTSW	11	78,095,752 (GRCm39)	missense	probably benign	0.22
R4687:Proca1	UTSW	11	78,095,724 (GRCm39)	missense	probably damaging	0.97
R5299:Proca1	UTSW	11	78,096,078 (GRCm39)	missense	probably damaging	0.99
R5318:Proca1	UTSW	11	78,092,683 (GRCm39)	missense	possibly damaging	0.92
R5564:Proca1	UTSW	11	78,092,699 (GRCm39)	missense	possibly damaging	0.81
R6592:Proca1	UTSW	11	78,095,779 (GRCm39)	missense	probably benign	0.00
R6796:Proca1	UTSW	11	78,085,754 (GRCm39)	missense	probably benign
R6894:Proca1	UTSW	11	78,085,613 (GRCm39)	unclassified	probably benign
R7423:Proca1	UTSW	11	78,085,643 (GRCm39)	unclassified	probably benign
R8110:Proca1	UTSW	11	78,095,737 (GRCm39)	missense	probably damaging	0.99
R8952:Proca1	UTSW	11	78,095,773 (GRCm39)	missense	probably benign	0.00
R8974:Proca1	UTSW	11	78,096,144 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCAGGAAAGCAACGTCATCAAG -3'
(R):5'- TTTGCCTCAGCTGAGATTGG -3'

Sequencing Primer
(F):5'- AGCAACGTCATCAAGGATATAAAG -3'
(R):5'- CCTCAGCTGAGATTGGGGTTG -3'

Posted On

2016-08-04