Mutagenetix > Incidental Mutation

Incidental Mutation 'R2027:Camsap1'

220738

Institutional Source

Beutler Lab

Gene Symbol

Camsap1

Ensembl Gene

ENSMUSG00000026933

Gene Name

calmodulin regulated spectrin-associated protein 1

Synonyms

9530003A05Rik, PRO2405

MMRRC Submission

040035-MU

Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R2027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25926838-25983282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25938526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1062 (V1062A)

Ref Sequence

ENSEMBL: ENSMUSP00000109804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000183461]

AlphaFold

A2AHC3

Predicted Effect

probably benign
Transcript: ENSMUST00000091268
AA Change: V1062A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: V1062A

Domain	Start	End	E-Value	Type
Pfam:CAMSAP_CH	228	311	3.3e-35	PFAM
low complexity region	732	747	N/A	INTRINSIC
low complexity region	792	807	N/A	INTRINSIC
low complexity region	826	837	N/A	INTRINSIC
Pfam:CAMSAP_CC1	859	917	3.8e-29	PFAM
coiled coil region	1010	1037	N/A	INTRINSIC
coiled coil region	1267	1336	N/A	INTRINSIC
low complexity region	1341	1353	N/A	INTRINSIC
low complexity region	1373	1390	N/A	INTRINSIC
low complexity region	1429	1439	N/A	INTRINSIC
CAMSAP_CKK	1442	1570	3.6e-85	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114167
AA Change: V1062A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: V1062A

Domain	Start	End	E-Value	Type
Pfam:CH	185	330	5.4e-34	PFAM
Pfam:CAMSAP_CH	228	311	2.3e-34	PFAM
low complexity region	732	747	N/A	INTRINSIC
low complexity region	792	807	N/A	INTRINSIC
low complexity region	826	837	N/A	INTRINSIC
coiled coil region	869	905	N/A	INTRINSIC
coiled coil region	1010	1037	N/A	INTRINSIC
coiled coil region	1267	1336	N/A	INTRINSIC
low complexity region	1341	1353	N/A	INTRINSIC
low complexity region	1373	1390	N/A	INTRINSIC
low complexity region	1429	1439	N/A	INTRINSIC
CAMSAP_CKK	1442	1570	3.6e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134882

SMART Domains

Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933

Domain	Start	End	E-Value	Type
Pfam:CH	185	350	1.3e-33	PFAM
Pfam:CAMSAP_CH	248	331	2.6e-34	PFAM
low complexity region	752	767	N/A	INTRINSIC
low complexity region	812	827	N/A	INTRINSIC
low complexity region	846	857	N/A	INTRINSIC
coiled coil region	889	925	N/A	INTRINSIC
coiled coil region	1030	1057	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134970

Predicted Effect

probably benign
Transcript: ENSMUST00000143977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148146

Predicted Effect

probably benign
Transcript: ENSMUST00000183461
AA Change: V1062A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: V1062A

Domain	Start	End	E-Value	Type
Pfam:CH	185	330	5.4e-34	PFAM
Pfam:CAMSAP_CH	228	311	2.3e-34	PFAM
low complexity region	732	747	N/A	INTRINSIC
low complexity region	792	807	N/A	INTRINSIC
low complexity region	826	837	N/A	INTRINSIC
coiled coil region	869	905	N/A	INTRINSIC
coiled coil region	1010	1037	N/A	INTRINSIC
coiled coil region	1267	1336	N/A	INTRINSIC
low complexity region	1341	1353	N/A	INTRINSIC
low complexity region	1373	1390	N/A	INTRINSIC
low complexity region	1429	1439	N/A	INTRINSIC
CAMSAP_CKK	1442	1570	3.6e-85	SMART

Meta Mutation Damage Score

0.0839

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (70/70)

Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,742,587	M55T	possibly damaging	Het
4932438A13Rik	T	A	3: 37,047,961		probably benign	Het
A4gnt	T	C	9: 99,620,201	V138A	possibly damaging	Het
Aatk	A	G	11: 120,009,317	S1291P	probably damaging	Het
Adgrv1	C	T	13: 81,595,182	V67M	probably damaging	Het
Apoa4	G	A	9: 46,243,000	V300M	probably damaging	Het
Bcl2a1d	A	T	9: 88,731,385	V112E	possibly damaging	Het
Cabp2	T	A	19: 4,087,126	M166K	probably damaging	Het
Cap1	T	G	4: 122,862,893		probably benign	Het
Caprin2	A	G	6: 148,877,887	Y141H	probably damaging	Het
Card11	T	C	5: 140,906,767	Y181C	probably damaging	Het
Ccdc107	T	C	4: 43,495,874	V259A	probably benign	Het
Chd9	A	G	8: 90,907,991		probably benign	Het
Col12a1	T	C	9: 79,645,793		probably null	Het
Cuzd1	T	C	7: 131,320,091	T61A	possibly damaging	Het
Dbp	C	A	7: 45,708,276	D89E	probably benign	Het
Dhps	A	T	8: 85,072,611	N140Y	probably damaging	Het
Dido1	A	T	2: 180,689,181	L158*	probably null	Het
Dnah9	T	G	11: 65,955,338	N2958T	probably benign	Het
Dpp8	T	A	9: 65,078,774	Y849N	probably damaging	Het
Dsg2	A	G	18: 20,583,004		probably benign	Het
Efemp1	A	T	11: 28,914,696	Y250F	possibly damaging	Het
Fam92a	T	A	4: 12,171,216	D79V	probably damaging	Het
Faxc	T	C	4: 21,958,439		probably benign	Het
Frem3	G	T	8: 80,695,337	C2122F	possibly damaging	Het
Gan	T	C	8: 117,187,499		probably null	Het
Gm11487	A	G	4: 73,403,058	I154T	possibly damaging	Het
Gnl1	A	G	17: 35,982,958	N274D	probably benign	Het
Hook3	T	C	8: 26,038,098	E588G	probably damaging	Het
Itpr1	C	A	6: 108,386,853	S812Y	possibly damaging	Het
Kbtbd3	C	T	9: 4,317,075		probably benign	Het
Macf1	C	T	4: 123,371,918	A4821T	probably damaging	Het
Mepe	T	C	5: 104,327,091	S13P	possibly damaging	Het
Myh11	A	G	16: 14,232,668	Y478H	probably damaging	Het
Myo7b	A	G	18: 31,984,960	V871A	probably benign	Het
Nckap1	A	T	2: 80,535,518	M466K	probably damaging	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Olfr1025-ps1	A	C	2: 85,918,770	S282R	probably damaging	Het
Olfr1107	T	A	2: 87,071,553	N194Y	possibly damaging	Het
Olfr1413	A	T	1: 92,573,767	T199S	probably damaging	Het
Olfr582	A	T	7: 103,041,524	H15L	probably benign	Het
Olfr731	A	G	14: 50,237,949	I312T	probably benign	Het
Olfr825	A	G	10: 130,162,735	I197T	probably benign	Het
Otof	T	C	5: 30,421,014	T97A	probably benign	Het
Peli2	G	A	14: 48,256,145	E275K	probably benign	Het
Pik3c2a	T	C	7: 116,350,822	Y1320C	probably damaging	Het
Pkn1	A	G	8: 83,671,378	V795A	probably damaging	Het
Pramel5	A	G	4: 144,271,704	L323P	probably damaging	Het
Prr5	A	T	15: 84,701,379	R183W	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rabgef1	A	G	5: 130,208,779	D231G	possibly damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rc3h1	C	T	1: 160,954,937	P662L	probably benign	Het
Rpl7a-ps5	G	T	17: 57,839,095	Q47K	probably benign	Het
Sclt1	G	A	3: 41,730,888	T45I	probably benign	Het
Slc22a17	A	G	14: 54,908,086	I202T	probably damaging	Het
Slc25a13	A	G	6: 6,073,487	L457S	probably damaging	Het
Slc44a3	T	C	3: 121,463,410		probably benign	Het
Slc7a9	G	A	7: 35,454,137	V188M	probably damaging	Het
Tmem161a	T	A	8: 70,177,520	F119I	probably damaging	Het
Tmem240	A	G	4: 155,735,435	D32G	possibly damaging	Het
Tmtc4	T	C	14: 122,921,265	N682S	probably benign	Het
Uqcrc1	G	A	9: 108,947,015	V262M	probably benign	Het
Vmn1r87	G	A	7: 13,131,896	R155C	probably damaging	Het
Vmn2r100	A	T	17: 19,522,072	Q236L	probably benign	Het
Vmn2r97	T	A	17: 18,929,682	I444N	unknown	Het
Wisp1	A	G	15: 66,917,409	E248G	possibly damaging	Het
Yif1a	A	T	19: 5,089,872	H115L	probably damaging	Het
Zfp280b	T	C	10: 76,038,494	L69S	probably damaging	Het
Zfp579	C	A	7: 4,993,521	E464*	probably null	Het

Other mutations in Camsap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Camsap1	APN	2	25,933,623 (GRCm38)	missense	possibly damaging	0.95
IGL01555:Camsap1	APN	2	25,939,393 (GRCm38)	missense	possibly damaging	0.81
IGL01667:Camsap1	APN	2	25,945,281 (GRCm38)	splice site	probably benign
IGL02167:Camsap1	APN	2	25,934,300 (GRCm38)	missense	probably damaging	1.00
IGL02191:Camsap1	APN	2	25,929,880 (GRCm38)	missense	probably damaging	0.97
IGL02285:Camsap1	APN	2	25,929,802 (GRCm38)	missense	probably damaging	1.00
IGL02393:Camsap1	APN	2	25,938,322 (GRCm38)	missense	probably benign	0.10
3-1:Camsap1	UTSW	2	25,945,178 (GRCm38)	missense	probably damaging	1.00
R0631:Camsap1	UTSW	2	25,933,647 (GRCm38)	missense	probably damaging	0.98
R0828:Camsap1	UTSW	2	25,939,085 (GRCm38)	missense	probably damaging	1.00
R1434:Camsap1	UTSW	2	25,945,178 (GRCm38)	missense	probably damaging	1.00
R1687:Camsap1	UTSW	2	25,939,615 (GRCm38)	missense	probably damaging	1.00
R2048:Camsap1	UTSW	2	25,929,743 (GRCm38)	missense	probably benign	0.00
R3732:Camsap1	UTSW	2	25,938,344 (GRCm38)	missense	probably damaging	1.00
R4437:Camsap1	UTSW	2	25,938,646 (GRCm38)	missense	possibly damaging	0.89
R4494:Camsap1	UTSW	2	25,952,758 (GRCm38)	missense	probably damaging	1.00
R4888:Camsap1	UTSW	2	25,935,550 (GRCm38)	missense	probably benign	0.03
R5028:Camsap1	UTSW	2	25,944,556 (GRCm38)	missense	probably damaging	1.00
R5058:Camsap1	UTSW	2	25,939,363 (GRCm38)	missense	probably benign	0.01
R5105:Camsap1	UTSW	2	25,940,929 (GRCm38)	missense	probably damaging	1.00
R5121:Camsap1	UTSW	2	25,935,550 (GRCm38)	missense	probably benign	0.03
R5153:Camsap1	UTSW	2	25,933,618 (GRCm38)	missense	probably damaging	1.00
R5323:Camsap1	UTSW	2	25,965,811 (GRCm38)	missense	probably damaging	0.98
R6043:Camsap1	UTSW	2	25,929,925 (GRCm38)	missense	probably benign	0.00
R6479:Camsap1	UTSW	2	25,935,862 (GRCm38)	missense	possibly damaging	0.88
R6502:Camsap1	UTSW	2	25,956,308 (GRCm38)	missense	probably damaging	1.00
R6571:Camsap1	UTSW	2	25,939,500 (GRCm38)	missense	possibly damaging	0.89
R7046:Camsap1	UTSW	2	25,945,189 (GRCm38)	missense	probably damaging	0.99
R7251:Camsap1	UTSW	2	25,938,886 (GRCm38)	missense	probably damaging	0.99
R8026:Camsap1	UTSW	2	25,938,202 (GRCm38)	missense	probably benign	0.17
R8133:Camsap1	UTSW	2	25,934,297 (GRCm38)	missense	probably damaging	0.99
R8152:Camsap1	UTSW	2	25,940,241 (GRCm38)	missense	probably damaging	1.00
R8158:Camsap1	UTSW	2	25,944,428 (GRCm38)	nonsense	probably null
R8325:Camsap1	UTSW	2	25,939,363 (GRCm38)	missense	probably benign	0.01
R8339:Camsap1	UTSW	2	25,982,805 (GRCm38)	missense	possibly damaging	0.74
R9187:Camsap1	UTSW	2	25,930,016 (GRCm38)	missense	probably damaging	1.00
R9379:Camsap1	UTSW	2	25,956,306 (GRCm38)	missense
R9419:Camsap1	UTSW	2	25,955,292 (GRCm38)	missense
R9525:Camsap1	UTSW	2	25,953,950 (GRCm38)	missense	probably benign
R9526:Camsap1	UTSW	2	25,953,950 (GRCm38)	missense	probably benign
R9776:Camsap1	UTSW	2	25,938,154 (GRCm38)	missense	probably benign	0.00
Z1176:Camsap1	UTSW	2	25,940,881 (GRCm38)	missense	probably benign	0.01
Z1176:Camsap1	UTSW	2	25,936,639 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGACCTTGACTGTGGGAGTG -3'
(R):5'- AGAATGATTTCTACGGCCCTC -3'

Sequencing Primer
(F):5'- GTCTCCACACTGGGTGTTG -3'
(R):5'- GATTTCTACGGCCCTCCTCGAG -3'

Posted On

2014-08-25