Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00539:Cdhr4'

13351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdhr4

Ensembl Gene

ENSMUSG00000032595

Gene Name

cadherin-related family member 4

Synonyms

D330022A01Rik, 1700021K14Rik, Cdh29

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

IGL00539

Quality Score

Status

Chromosome

Chromosomal Location

107869696-107876883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107876744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 771 (Y771C)

Ref Sequence

ENSEMBL: ENSMUSP00000135184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035214] [ENSMUST00000164395] [ENSMUST00000175759] [ENSMUST00000176373] [ENSMUST00000176306] [ENSMUST00000176356] [ENSMUST00000176854] [ENSMUST00000175874] [ENSMUST00000177173] [ENSMUST00000177508] [ENSMUST00000177368]

AlphaFold

H3BJZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000035214

SMART Domains

Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC
Pfam:IPK	207	426	2.2e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000035215

Predicted Effect

probably benign
Transcript: ENSMUST00000164395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175729

Predicted Effect

probably damaging
Transcript: ENSMUST00000175759
AA Change: Y208C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135743
Gene: ENSMUSG00000032595
AA Change: Y208C

Domain	Start	End	E-Value	Type
Blast:CA	3	104	4e-44	BLAST
SCOP:d1l3wa3	59	104	4e-7	SMART
transmembrane domain	125	147	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000175802
AA Change: Y124C

SMART Domains

Protein: ENSMUSP00000135003
Gene: ENSMUSG00000032595
AA Change: Y124C

Domain	Start	End	E-Value	Type
CA	33	116	5.4e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000176373
AA Change: Y81C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134896
Gene: ENSMUSG00000032595
AA Change: Y81C

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000176334
AA Change: Y169C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176196

Predicted Effect

probably benign
Transcript: ENSMUST00000176306

Predicted Effect

probably benign
Transcript: ENSMUST00000176356

Predicted Effect

probably benign
Transcript: ENSMUST00000176854

SMART Domains

Protein: ENSMUSP00000141232
Gene: ENSMUSG00000032594

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176459

Predicted Effect

probably benign
Transcript: ENSMUST00000175874

SMART Domains

Protein: ENSMUSP00000135747
Gene: ENSMUSG00000032594

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177173
AA Change: Y771C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: Y771C

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	80	91	N/A	INTRINSIC
Blast:CA	149	224	2e-9	BLAST
Blast:CA	252	330	3e-33	BLAST
CA	354	437	2.24e-1	SMART
CA	459	542	5.86e-17	SMART
Blast:CA	566	649	3e-40	BLAST
transmembrane domain	680	702	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177226

Predicted Effect

probably damaging
Transcript: ENSMUST00000177508
AA Change: Y143C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135332
Gene: ENSMUSG00000032595
AA Change: Y143C

Domain	Start	End	E-Value	Type
Blast:CA	1	29	4e-7	BLAST
transmembrane domain	60	82	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177396

Predicted Effect

probably benign
Transcript: ENSMUST00000177368

SMART Domains

Protein: ENSMUSP00000135553
Gene: ENSMUSG00000079323

Domain	Start	End	E-Value	Type
Blast:UBA_e1_C	1	39	1e-10	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	A	19: 8,985,272 (GRCm39)	D2185E	possibly damaging	Het
Camk2b	A	G	11: 5,922,310 (GRCm39)	S560P	probably damaging	Het
Cdh13	C	A	8: 120,039,245 (GRCm39)	N562K	possibly damaging	Het
Ermap	A	G	4: 119,041,114 (GRCm39)	S299P	probably damaging	Het
Fgd3	A	G	13: 49,429,119 (GRCm39)		probably benign	Het
Fpr-rs4	T	A	17: 18,242,188 (GRCm39)	L65Q	probably damaging	Het
Hsph1	C	T	5: 149,542,254 (GRCm39)	R723H	possibly damaging	Het
Iqcb1	A	G	16: 36,678,873 (GRCm39)	K396E	probably damaging	Het
Kif21a	T	C	15: 90,821,504 (GRCm39)	T1424A	probably damaging	Het
Mpdz	T	C	4: 81,279,588 (GRCm39)	S700G	possibly damaging	Het
Mta3	G	A	17: 84,070,412 (GRCm39)	R39Q	probably benign	Het
Muc4	A	T	16: 32,569,728 (GRCm39)	T263S	possibly damaging	Het
Ncan	G	A	8: 70,567,921 (GRCm39)	P64S	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Pla2g4f	T	C	2: 120,133,219 (GRCm39)	H660R	possibly damaging	Het
Polq	A	G	16: 36,880,931 (GRCm39)	T753A	probably damaging	Het
Ptchd4	C	T	17: 42,627,817 (GRCm39)	Q93*	probably null	Het
Sfpq	T	C	4: 126,917,481 (GRCm39)	V437A	possibly damaging	Het
Slc18b1	G	A	10: 23,700,659 (GRCm39)		probably null	Het
Taf1c	C	T	8: 120,328,067 (GRCm39)	V277I	possibly damaging	Het
Tcf20	T	A	15: 82,736,957 (GRCm39)	Q1498L	probably benign	Het
Tet1	C	A	10: 62,650,276 (GRCm39)	C1644F	probably damaging	Het
Trmt5	T	C	12: 73,331,693 (GRCm39)	E121G	possibly damaging	Het
Wapl	A	G	14: 34,416,965 (GRCm39)	D525G	probably damaging	Het
Ylpm1	A	G	12: 85,075,728 (GRCm39)	T360A	possibly damaging	Het
Zfp292	G	A	4: 34,808,790 (GRCm39)	P1418L	probably damaging	Het

Other mutations in Cdhr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Cdhr4	APN	9	107,873,060 (GRCm39)	unclassified	probably benign
IGL02097:Cdhr4	APN	9	107,870,199 (GRCm39)	missense	probably benign	0.17
IGL02441:Cdhr4	APN	9	107,870,466 (GRCm39)	missense	possibly damaging	0.84
IGL02635:Cdhr4	APN	9	107,870,070 (GRCm39)	missense	probably benign	0.04
IGL02870:Cdhr4	APN	9	107,875,263 (GRCm39)	critical splice donor site	probably null
IGL03160:Cdhr4	APN	9	107,873,068 (GRCm39)	missense	probably benign	0.05
IGL03162:Cdhr4	APN	9	107,875,210 (GRCm39)	missense	probably damaging	1.00
IGL03250:Cdhr4	APN	9	107,873,858 (GRCm39)	missense	probably damaging	0.99
R0233:Cdhr4	UTSW	9	107,874,133 (GRCm39)	missense	probably benign	0.25
R0233:Cdhr4	UTSW	9	107,874,133 (GRCm39)	missense	probably benign	0.25
R1241:Cdhr4	UTSW	9	107,872,495 (GRCm39)	missense	probably benign	0.00
R1250:Cdhr4	UTSW	9	107,874,715 (GRCm39)	missense	probably damaging	1.00
R2102:Cdhr4	UTSW	9	107,875,206 (GRCm39)	missense	probably damaging	1.00
R2104:Cdhr4	UTSW	9	107,873,460 (GRCm39)	missense	probably damaging	0.97
R2106:Cdhr4	UTSW	9	107,874,693 (GRCm39)	missense	possibly damaging	0.75
R2108:Cdhr4	UTSW	9	107,874,843 (GRCm39)	missense	probably damaging	1.00
R2171:Cdhr4	UTSW	9	107,870,117 (GRCm39)	missense	probably benign	0.00
R2312:Cdhr4	UTSW	9	107,872,486 (GRCm39)	missense	probably benign	0.00
R4106:Cdhr4	UTSW	9	107,873,459 (GRCm39)	missense	probably damaging	1.00
R4515:Cdhr4	UTSW	9	107,870,150 (GRCm39)	missense	probably benign	0.31
R4686:Cdhr4	UTSW	9	107,872,883 (GRCm39)	missense	probably benign	0.00
R4799:Cdhr4	UTSW	9	107,875,898 (GRCm39)	splice site	probably benign
R5165:Cdhr4	UTSW	9	107,874,829 (GRCm39)	missense	probably damaging	1.00
R5478:Cdhr4	UTSW	9	107,872,790 (GRCm39)	missense	possibly damaging	0.61
R5574:Cdhr4	UTSW	9	107,870,527 (GRCm39)	unclassified	probably benign
R7387:Cdhr4	UTSW	9	107,874,111 (GRCm39)	nonsense	probably null
R7609:Cdhr4	UTSW	9	107,874,482 (GRCm39)	missense	probably damaging	0.99
R7663:Cdhr4	UTSW	9	107,875,971 (GRCm39)	nonsense	probably null
R8141:Cdhr4	UTSW	9	107,873,991 (GRCm39)	missense
R8483:Cdhr4	UTSW	9	107,872,198 (GRCm39)	missense	probably damaging	1.00
R8493:Cdhr4	UTSW	9	107,873,453 (GRCm39)	missense	probably damaging	1.00
R8715:Cdhr4	UTSW	9	107,874,596 (GRCm39)	missense
R8816:Cdhr4	UTSW	9	107,872,791 (GRCm39)	missense	possibly damaging	0.56
R9392:Cdhr4	UTSW	9	107,873,507 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06