Mutagenetix > Incidental Mutation

Incidental Mutation 'R7998:Cib1'

616191

Institutional Source

Beutler Lab

Gene Symbol

Cib1

Ensembl Gene

ENSMUSG00000030538

Gene Name

calcium and integrin binding 1

Synonyms

Kip

MMRRC Submission

046038-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7998 (G1)

Quality Score

225.009

Status

Not 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,818,649 (GRCm39)	R216C	probably benign	Het
Acsl3	C	T	1: 78,671,988 (GRCm39)	P294L	probably damaging	Het
Alox12b	T	C	11: 69,059,663 (GRCm39)	Y572H	probably damaging	Het
Arid1b	A	G	17: 5,377,959 (GRCm39)	D1236G	probably damaging	Het
Astl	T	C	2: 127,192,419 (GRCm39)	L254P	probably damaging	Het
Btbd7	A	C	12: 102,761,499 (GRCm39)	L562R	probably damaging	Het
Chl1	T	C	6: 103,706,250 (GRCm39)	V1195A	probably benign	Het
Ciao2b	T	A	8: 105,367,668 (GRCm39)	S94C	probably damaging	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Cpne6	A	C	14: 55,753,751 (GRCm39)	Q403P	probably damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Cux2	T	C	5: 122,006,648 (GRCm39)	D874G	possibly damaging	Het
Dicer1	A	T	12: 104,670,328 (GRCm39)	F1079Y	probably damaging	Het
Dsc2	T	A	18: 20,167,720 (GRCm39)	Q724H	possibly damaging	Het
Fbxw16	A	G	9: 109,265,766 (GRCm39)	V351A	probably damaging	Het
G2e3	A	T	12: 51,400,624 (GRCm39)	E59D	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm10837	G	T	14: 122,728,053 (GRCm39)		probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr18	T	C	14: 122,149,393 (GRCm39)	I211V	probably benign	Het
Gstm7	T	A	3: 107,837,657 (GRCm39)	D98V	probably damaging	Het
Hspa8	A	G	9: 40,715,810 (GRCm39)	Y525C	probably damaging	Het
Itga7	T	C	10: 128,770,020 (GRCm39)	S55P	probably damaging	Het
Itpr1	T	C	6: 108,394,909 (GRCm39)	V1674A	possibly damaging	Het
Itsn1	G	T	16: 91,647,824 (GRCm39)	G893C	unknown	Het
Kcnc1	A	G	7: 46,047,223 (GRCm39)	D41G	probably benign	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Leo1	G	T	9: 75,352,558 (GRCm39)	G34C	probably benign	Het
Map4	G	A	9: 109,908,929 (GRCm39)	V1050M	probably damaging	Het
Mast3	A	G	8: 71,236,214 (GRCm39)	V722A	probably benign	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mier1	T	C	4: 103,019,812 (GRCm39)	F512S	probably benign	Het
Mix23	T	A	16: 35,905,403 (GRCm39)	V65D	probably benign	Het
Mov10l1	T	A	15: 88,937,642 (GRCm39)	V1147E	probably damaging	Het
Mroh7	T	C	4: 106,568,478 (GRCm39)	E409G	probably benign	Het
Muc16	G	T	9: 18,551,188 (GRCm39)	P5035Q	probably benign	Het
Nemp1	C	A	10: 127,529,358 (GRCm39)	S213R	probably damaging	Het
Npffr2	T	C	5: 89,731,149 (GRCm39)	Y360H	probably damaging	Het
Nrxn2	T	C	19: 6,559,905 (GRCm39)	V1221A	probably damaging	Het
Nup107	A	G	10: 117,593,899 (GRCm39)	F765L	probably damaging	Het
Nup188	T	C	2: 30,220,983 (GRCm39)	L991P	probably damaging	Het
Or13f5	A	T	4: 52,825,970 (GRCm39)	D191V	possibly damaging	Het
Or5ac23	T	A	16: 59,149,633 (GRCm39)	M80L	probably benign	Het
Pla2g7	A	T	17: 43,922,209 (GRCm39)	I363L	probably benign	Het
Ppp2r1a	T	C	17: 21,181,901 (GRCm39)	F473S	possibly damaging	Het
Prex1	A	G	2: 166,428,965 (GRCm39)		probably null	Het
Ptov1	A	G	7: 44,514,353 (GRCm39)	V263A	probably damaging	Het
Reg3a	T	C	6: 78,358,132 (GRCm39)	V21A	probably benign	Het
Sdk2	T	A	11: 113,750,764 (GRCm39)	I550F	probably benign	Het
Shprh	T	A	10: 11,061,085 (GRCm39)	W1133R	probably damaging	Het
Slc28a2b	T	C	2: 122,324,839 (GRCm39)	L137P	probably damaging	Het
Syne2	T	C	12: 76,134,632 (GRCm39)	V1297A	probably damaging	Het
Themis2	A	G	4: 132,519,875 (GRCm39)	I50T	probably damaging	Het
Tmprss15	C	A	16: 78,798,731 (GRCm39)	L650F	possibly damaging	Het
Ttc41	C	A	10: 86,572,711 (GRCm39)	N694K	probably benign	Het
Ttll9	T	C	2: 152,833,546 (GRCm39)	Y215H	possibly damaging	Het
Ttn	C	A	2: 76,733,653 (GRCm39)	V4541L	unknown	Het
Usp32	G	T	11: 84,885,252 (GRCm39)	A1265E	probably damaging	Het
Vcan	T	A	13: 89,852,446 (GRCm39)	D838V	probably damaging	Het
Vmn2r88	T	C	14: 51,651,565 (GRCm39)	I293T		Het
Wdr36	T	G	18: 32,985,572 (GRCm39)	D496E	probably damaging	Het
Wrn	T	C	8: 33,782,671 (GRCm39)	N753S	probably benign	Het
Zmat3	T	C	3: 32,395,815 (GRCm39)	R231G	possibly 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
R1548:Cib1	UTSW	7	79,878,162 (GRCm39)	nonsense	probably null
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
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'- ATCAGCTGCTTCATCTCAGAAG -3'
(R):5'- AGGTCATGCCCTGTGATGTTC -3'

Sequencing Primer
(F):5'- ATTCACAAGCTGGCTCAGGTC -3'
(R):5'- GTTCACAGAAGGCTTTCTTACACAGG -3'

Posted On

2020-01-23