Mutagenetix > Incidental Mutation

Incidental Mutation 'R1548:Cib1'

172329

Institutional Source

Beutler Lab

Gene Symbol

Cib1

Ensembl Gene

ENSMUSG00000030538

Gene Name

calcium and integrin binding 1

Synonyms

Kip

MMRRC Submission

039587-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79876904-79882553 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 79878162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 105 (Y105*)

Ref Sequence

ENSEMBL: ENSMUSP00000145961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032754] [ENSMUST00000062915] [ENSMUST00000065163] [ENSMUST00000071457] [ENSMUST00000123279] [ENSMUST00000206084] [ENSMUST00000205996] [ENSMUST00000205822] [ENSMUST00000206802]

AlphaFold

Q9Z0F4

Predicted Effect

probably benign
Transcript: ENSMUST00000032754

SMART Domains

Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Sema	57	494	8.07e-177	SMART
PSI	512	582	4.7e-9	SMART
low complexity region	626	639	N/A	INTRINSIC
transmembrane domain	701	723	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062915

SMART Domains

Protein: ENSMUSP00000061808
Gene: ENSMUSG00000050973

Domain	Start	End	E-Value	Type
SCOP:d1kpf__	150	223	1e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000065163
AA Change: Y110*

SMART Domains

Protein: ENSMUSP00000070901
Gene: ENSMUSG00000030538
AA Change: Y110*

Domain	Start	End	E-Value	Type
low complexity region	84	100	N/A	INTRINSIC
EFh	107	135	4.4e0	SMART
EFh	152	180	1.17e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000071457
AA Change: Y62*

SMART Domains

Protein: ENSMUSP00000071401
Gene: ENSMUSG00000030538
AA Change: Y62*

Domain	Start	End	E-Value	Type
low complexity region	36	52	N/A	INTRINSIC
EFh	59	87	4.4e0	SMART
EFh	104	132	1.17e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000123279
AA Change: Y36*

SMART Domains

Protein: ENSMUSP00000118926
Gene: ENSMUSG00000030538
AA Change: Y36*

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
EFh	33	61	4.4e0	SMART
EFh	78	106	1.17e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144295

Predicted Effect

probably null
Transcript: ENSMUST00000206084
AA Change: Y105*

Predicted Effect

probably null
Transcript: ENSMUST00000205996
AA Change: Y36*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206618

Predicted Effect

probably benign
Transcript: ENSMUST00000205822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206211

Predicted Effect

probably benign
Transcript: ENSMUST00000206802

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mutation of this gene results in male infertility due to disruption of the haploid phase of spermatogenesis and is associated with small testis size and loss of elongated spermatids and sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,588,818 (GRCm39)	R78S	probably damaging	Het
Acad10	G	C	5: 121,764,104 (GRCm39)		probably benign	Het
Acad10	G	T	5: 121,764,103 (GRCm39)		probably benign	Het
Ang2	C	A	14: 51,432,990 (GRCm39)	E131*	probably null	Het
Ankfn1	T	C	11: 89,417,367 (GRCm39)	N82D	probably damaging	Het
Anks1b	T	C	10: 89,885,847 (GRCm39)	I181T	possibly damaging	Het
Bcl2l12	C	G	7: 44,642,242 (GRCm39)	G215R	probably damaging	Het
Bnc2	A	G	4: 84,194,194 (GRCm39)	Y1044H	probably damaging	Het
Cacna1s	T	C	1: 136,038,675 (GRCm39)	F1172S	probably damaging	Het
Cct8	A	G	16: 87,282,472 (GRCm39)	I482T	probably damaging	Het
Cfap74	C	T	4: 155,518,502 (GRCm39)	T580I	probably benign	Het
Cpa1	G	A	6: 30,642,334 (GRCm39)	G245D	probably damaging	Het
Csmd3	A	G	15: 47,845,371 (GRCm39)	V801A	possibly damaging	Het
Ddx10	T	C	9: 53,060,861 (GRCm39)		probably null	Het
Ddx4	T	C	13: 112,736,531 (GRCm39)	N613S	probably damaging	Het
Drd3	A	G	16: 43,641,704 (GRCm39)	D340G	probably benign	Het
E2f4	A	G	8: 106,031,320 (GRCm39)	*411W	probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Foxp1	A	T	6: 98,922,381 (GRCm39)	I450N	probably damaging	Het
Ftdc1	A	T	16: 58,436,202 (GRCm39)	D40E	probably benign	Het
Gpr19	A	G	6: 134,847,047 (GRCm39)	F175S	possibly damaging	Het
Gpr21	C	T	2: 37,408,084 (GRCm39)	T210M	probably damaging	Het
Grhl2	C	T	15: 37,336,567 (GRCm39)	A488V	probably benign	Het
Hif3a	T	C	7: 16,778,328 (GRCm39)	T435A	probably benign	Het
Hoxb4	C	T	11: 96,209,725 (GRCm39)	R44*	probably null	Het
Ifi47	A	G	11: 48,986,698 (GRCm39)	D155G	probably damaging	Het
Igdcc4	T	C	9: 65,042,509 (GRCm39)	L142P	probably benign	Het
Ints6	G	A	14: 62,951,141 (GRCm39)	P296L	probably damaging	Het
Itga3	A	G	11: 94,937,745 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Krtap20-1	G	A	16: 88,812,277 (GRCm39)		probably benign	Het
Lgals12	A	T	19: 7,581,677 (GRCm39)	H50Q	probably benign	Het
Lrp12	A	G	15: 39,735,902 (GRCm39)	S696P	probably damaging	Het
Lrp6	G	A	6: 134,436,392 (GRCm39)	T1258I	possibly damaging	Het
Meis2	C	T	2: 115,889,183 (GRCm39)	D190N	probably damaging	Het
Mir100hg	T	C	9: 41,492,672 (GRCm39)	L116P	probably damaging	Het
Mon2	C	T	10: 122,871,912 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,238,368 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo15a	A	G	11: 60,379,064 (GRCm39)	H1394R	probably damaging	Het
Myo5a	A	T	9: 75,079,028 (GRCm39)	I929F	probably damaging	Het
Nek6	T	A	2: 38,458,907 (GRCm39)	Y141N	probably damaging	Het
Notch4	T	A	17: 34,787,396 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	T	5: 63,957,525 (GRCm39)	D285V	probably benign	Het
Olfml1	T	C	7: 107,189,582 (GRCm39)	S216P	possibly damaging	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Pfkfb2	G	T	1: 130,625,820 (GRCm39)	H453Q	probably benign	Het
Pigt	C	T	2: 164,343,439 (GRCm39)	T305I	probably benign	Het
Plxnb1	C	T	9: 108,929,968 (GRCm39)	L275F	possibly damaging	Het
Ppm1d	C	T	11: 85,230,431 (GRCm39)	R350C	probably damaging	Het
Prss1l	G	T	6: 41,372,945 (GRCm39)	L72F	probably damaging	Het
Rassf1	C	A	9: 107,429,045 (GRCm39)	P84T	probably benign	Het
Rgl3	G	T	9: 21,892,002 (GRCm39)	R361S	probably benign	Het
Rnf213	G	A	11: 119,333,533 (GRCm39)	R2914H	probably damaging	Het
Ryr2	A	T	13: 11,569,435 (GRCm39)	C4956*	probably null	Het
Scaper	C	T	9: 55,723,954 (GRCm39)	R668H	probably damaging	Het
Spata6	T	C	4: 111,636,203 (GRCm39)	F165L	probably benign	Het
Tcirg1	A	T	19: 3,946,845 (GRCm39)	W694R	probably benign	Het
Tmem245	A	T	4: 56,906,233 (GRCm39)	Y160*	probably null	Het
Tshr	T	C	12: 91,500,805 (GRCm39)	Y279H	probably damaging	Het
Ttf1	A	C	2: 28,955,150 (GRCm39)	K171N	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Xdh	A	G	17: 74,220,896 (GRCm39)	V611A	probably damaging	Het
Zfp142	G	T	1: 74,609,263 (GRCm39)	H1408N	probably damaging	Het

Other mutations in Cib1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0042:Cib1	UTSW	7	79,880,126 (GRCm39)	missense	probably benign	0.00
R1132:Cib1	UTSW	7	79,877,778 (GRCm39)	missense	probably damaging	1.00
R1964:Cib1	UTSW	7	79,882,120 (GRCm39)	missense	possibly damaging	0.90
R7203:Cib1	UTSW	7	79,882,120 (GRCm39)	missense	possibly damaging	0.90
R7998:Cib1	UTSW	7	79,878,162 (GRCm39)	nonsense	probably null
R8427:Cib1	UTSW	7	79,877,749 (GRCm39)	missense	probably damaging	1.00
R8799:Cib1	UTSW	7	79,882,291 (GRCm39)	missense	probably damaging	1.00
R8950:Cib1	UTSW	7	79,878,211 (GRCm39)	missense	probably damaging	1.00
R9123:Cib1	UTSW	7	79,877,751 (GRCm39)	missense	probably damaging	1.00
R9125:Cib1	UTSW	7	79,877,751 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCATCTCAGAAGCACTGAGCCG -3'
(R):5'- GAGTTTGTAACCCAGGTCATGCCC -3'

Sequencing Primer
(F):5'- CGTGAGGCAATTCACAAGCTG -3'
(R):5'- CAGGTCATGCCCTGTGATG -3'

Posted On

2014-04-13